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    KRIT1 KRIT1 ankyrin repeat containing [ Homo sapiens (human) ]

    Gene ID: 889, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KRIT1provided by HGNC
    Official Full Name
    KRIT1 ankyrin repeat containingprovided by HGNC
    Primary source
    HGNC:HGNC:1573
    See related
    Ensembl:ENSG00000001631 MIM:604214; AllianceGenome:HGNC:1573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAM; CCM1
    Summary
    This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
    Expression
    Ubiquitous expression in testis (RPKM 10.9), thyroid (RPKM 10.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KRIT1 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92198969..92246100, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93440257..93487387, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91828283..91875414, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:91763126-91763952 and GRCh37_chr7:91763953-91764779 Neighboring gene cytochrome P450 family 51 subfamily A member 1 Neighboring gene MPRA-validated peak6634 silencer Neighboring gene MPRA-validated peak6635 silencer Neighboring gene MPRA-validated peak6636 silencer Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18367 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18368 Neighboring gene microRNA 1285-1 Neighboring gene Sharpr-MPRA regulatory region 5961 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:91888982-91890181 Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92052283-92052783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18370 Neighboring gene transmembrane BAX inhibitor motif containing 7, pseudogene Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. Melis M, et al. Cerebrovasc Dis, 2014. PMID 25413039
    2. Plasma water T(2) detects age-stratified differences in cardiometabolic health among familial CCM patients with Hispanic CCM1 mutation. Croft J, et al. Metab Brain Dis, 2024 Jun. PMID 38795261
    3. Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy. Rajakulendran S, et al. BMJ Case Rep, 2011 Mar 24. PMID 22699465, Free PMC Article
    4. Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation. Dammann P, et al. Neurosurg Rev, 2013 Jul. PMID 23584803
    5. Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway. Marzo S, et al. Eur J Histochem, 2014 Mar 11. PMID 24705002, Free PMC Article

    See all (143) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Plasma water T2 detects age-stratified differences in cardiometabolic health among familial CCM patients with Hispanic CCM1 mutation.
      Title: Plasma water T(2) detects age-stratified differences in cardiometabolic health among familial CCM patients with Hispanic CCM1 mutation.
    2. A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
      Title: A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
    3. Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
      Title: Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
    4. KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
      Title: KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
    5. Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1.
      Title: Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1.
    6. Protein kinase Calpha regulates the nucleocytoplasmic shuttling of KRIT1.
      Title: Protein kinase Cα regulates the nucleocytoplasmic shuttling of KRIT1.
    7. Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
      Title: Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
    8. Postzygotic mosaicism in cerebral cavernous malformation.
      Title: Postzygotic mosaicism in cerebral cavernous malformation.
    9. Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
      Title: Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
    10. KRIT1 as a possible new player in melanoma aggressiveness.
      Title: KRIT1 as a possible new player in melanoma aggressiveness.
    Submit: New GeneRIF Correction See all GeneRIFs (97)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase regulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell redox homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell redox homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endothelium development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in integrin activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of angiogenesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of establishment of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in small GTPase-mediated signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    krev interaction trapped protein 1
    Names
    ankyrin repeat-containing protein Krit1
    cerebral cavernous malformations 1 protein
    krev interaction trapped 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012964.1 RefSeqGene

      Range
      5001..52132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_650

    mRNA and Protein(s)

    1. NM_001013406.2 → NP_001013424.1  krev interaction trapped protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001013424.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' exon, and lacks 2 exons in the 5' UTR and an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 2 lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS34679.1
      UniProtKB/TrEMBL
      A0A8I5KW41
      Related
      ENSP00000378011.2, ENST00000394503.6
      Conserved Domains (5) summary
      smart00295
      Location:373 → 592
      B41; Band 4.1 homologues
      cd13197
      Location:588 → 687
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:306 → 338
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:282 → 363
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    2. NM_001350669.1 → NP_001337598.1  krev interaction trapped protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 5 and 7, encodes isoform 2.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS34679.1
      UniProtKB/TrEMBL
      A0A8I5KW41
      Conserved Domains (5) summary
      smart00295
      Location:373 → 592
      B41; Band 4.1 homologues
      cd13197
      Location:588 → 687
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:306 → 338
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:282 → 363
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    3. NM_001350670.1 → NP_001337599.1  krev interaction trapped protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 5 and 6, encodes isoform 2.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS34679.1
      UniProtKB/TrEMBL
      A0A8I5KW41
      Related
      ENSP00000508543.1, ENST00000689556.1
      Conserved Domains (5) summary
      smart00295
      Location:373 → 592
      B41; Band 4.1 homologues
      cd13197
      Location:588 → 687
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:306 → 338
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:282 → 363
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    4. NM_001350671.1 → NP_001337600.1  krev interaction trapped protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC000120
      Conserved Domains (4) summary
      smart00295
      Location:183 → 402
      B41; Band 4.1 homologues
      cd00204
      Location:53 → 173
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:398 → 497
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:53 → 80
      ANK; ANK repeat [structural motif]

    5. NM_001350672.1 → NP_001337601.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 1-4 and 10-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    6. NM_001350673.1 → NP_001337602.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 1-4, 9, and 11-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000510015.1, ENST00000686094.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    7. NM_001350674.1 → NP_001337603.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 1-4, 9, 10, and 12-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    8. NM_001350675.1 → NP_001337604.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 1-4, 9-11, and 13-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000391675.2, ENST00000458177.7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    9. NM_001350676.1 → NP_001337605.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 1-4, 9-12, and 14-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000388076.2, ENST00000444960.6
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    10. NM_001350677.1 → NP_001337606.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 1-4, 9-13, and 15-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    11. NM_001350678.1 → NP_001337607.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 1-4, 9-14, and 16-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    12. NM_001350679.1 → NP_001337608.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 1-4, 9-15, and 17-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000509139.1, ENST00000686527.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    13. NM_001350680.1 → NP_001337609.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (34), as well as variants 1-4 and 9-33, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    14. NM_001350681.1 → NP_001337610.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 1-4, 9-16, and 18-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    15. NM_001350682.1 → NP_001337611.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 1-4, 9-17, and 19-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    16. NM_001350683.1 → NP_001337612.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 1-4, 9-18, and 20-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    17. NM_001350684.1 → NP_001337613.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 1-4, 9-19, and 21-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    18. NM_001350685.1 → NP_001337614.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 1-4, 9-20, and 22-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000509514.1, ENST00000692157.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    19. NM_001350686.1 → NP_001337615.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 1-4, 9-21, and 23-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000509617.1, ENST00000687135.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    20. NM_001350687.1 → NP_001337616.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23), as well as variants 1-4, 9-22, and 24-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000509209.1, ENST00000688665.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    21. NM_001350688.1 → NP_001337617.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 1-4, 9-23, and 25-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    22. NM_001350689.1 → NP_001337618.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 1-4, 9-24, and 26-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000509832.1, ENST00000690720.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    23. NM_001350690.1 → NP_001337619.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26), as well as variants 1-4, 9-25, and 27-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    24. NM_001350691.1 → NP_001337620.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (27), as well as variants 1-4, 9-26, and 28-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    25. NM_001350692.1 → NP_001337621.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (28), as well as variants 1-4, 9-27, and 29-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    26. NM_001350693.1 → NP_001337622.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (29), as well as variants 1-4, 9-28, and 30-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    27. NM_001350694.1 → NP_001337623.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (30), as well as variants 1-4, 9-29, and 31-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    28. NM_001350695.1 → NP_001337624.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (31), as well as variants 1-4, 9-30, and 32-34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000508564.1, ENST00000692807.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    29. NM_001350696.1 → NP_001337625.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (32), as well as variants 1-4, 9-31, 33, and 34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000510733.1, ENST00000690529.1
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    30. NM_001350697.1 → NP_001337626.1  krev interaction trapped protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (33), as well as variants 1-4, 9-32, and 34, encodes isoform 1.
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    31. NM_004912.4 → NP_004903.2  krev interaction trapped protein 1 isoform 1

      See identical proteins and their annotated locations for NP_004903.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks the 5' exon but has an alternate segment in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000410909.2, ENST00000412043.6
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    32. NM_194454.3 → NP_919436.1  krev interaction trapped protein 1 isoform 1

      See identical proteins and their annotated locations for NP_919436.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks 2 exons but has an alternate exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000378013.2, ENST00000394505.7
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    33. NM_194455.1 → NP_919437.1  krev interaction trapped protein 1 isoform 1

      See identical proteins and their annotated locations for NP_919437.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has 2 alternate exons in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AF388384
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000344668.2, ENST00000340022.6
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    34. NM_194456.1 → NP_919438.1  krev interaction trapped protein 1 isoform 1

      See identical proteins and their annotated locations for NP_919438.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) includes 4 exons in the 5' UTR. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AF296765, AF388384, AJ294850
      Consensus CDS
      CCDS5624.1
      UniProtKB/Swiss-Prot
      A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
      UniProtKB/TrEMBL
      A0A8I5KUF9, A4D1F7
      Related
      ENSP00000378015.1, ENST00000394507.5
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd00204
      Location:291 → 411
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      92198969..92246100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      93440257..93487387 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00522.2 GenPept UniProtKB/Swiss-Prot:O00522

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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