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    krit1 KRIT1 ankyrin repeat containing [ Danio rerio (zebrafish) ]

    Gene ID: 321836, updated on 2-Nov-2024

    Summary

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    Official Symbol
    krit1provided by ZNC
    Official Full Name
    KRIT1 ankyrin repeat containingprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-555
    See related
    Ensembl:ENSDARG00000098916 AllianceGenome:ZFIN:ZDB-GENE-030131-555
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    san; santa; fb36f07; zgc:63585; wu:fb36f07
    Summary
    Acts upstream of or within several processes, including circulatory system development; endothelial cell morphogenesis; and negative regulation of endothelial cell differentiation. Predicted to be located in several cellular components, including anchoring junction; cytoplasm; and cytoskeleton. Predicted to be active in plasma membrane. Is expressed in head; notochord; post-vent region; vasculature; and ventricular zone. Used to study cerebral cavernous malformation 1. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Orthologous to human KRIT1 (KRIT1 ankyrin repeat containing). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See krit1 in Genome Data Viewer
    Location:
    chromosome: 19
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 19 NC_007130.7 (45991058..46017829, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 19 NC_007130.6 (46400438..46427209, complement)

    Chromosome 19 - NC_007130.7Genomic Context describing neighboring genes Neighboring gene uncharacterized protein C20orf202-like Neighboring gene si:ch211-153f2.3 Neighboring gene nucleoporin 153 Neighboring gene phosphatidylserine synthase 1b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Ccm1 regulates microvascular morphogenesis during angiogenesis. Liu H, et al. J Vasc Res, 2011. PMID 20926893, Free PMC Article
    2. Ccm1 assures microvascular integrity during angiogenesis. Liu H, et al. Transl Stroke Res, 2010 Jun. PMID 21562623, Free PMC Article
    3. A mechanism of Rap1-induced stabilization of endothelial cell--cell junctions. Liu JJ, et al. Mol Biol Cell, 2011 Jul 15. PMID 21633110, Free PMC Article
    4. The CCM1-CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity. Lisowska J, et al. J Cell Sci, 2018 Aug 13. PMID 30030370
    5. santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish. Mably JD, et al. Development, 2006 Aug. PMID 16873582

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In turn, Heg1 stabilizes levels of Krit1 protein, and both Heg1 and Krit1 dampen expression levels of klf2a, a major mechanosensitive gene. The correct balance of blood-flow-dependent induction and Krit1 protein-mediated repression of klf2a and notch1b ultimately shapes cardiac valve leaflet morphology.
      Title: Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis.
    2. CCM3 signals through sterile 20-like kinases to regulate both endothelial and epithelial cell junctions in development and disease.
      Title: CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations.
    3. endothelial cellular morphogenesis is regulated by CCM1 proteins during development and pathogenesis. [CCM1]
      Title: ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish.
    4. the direct interaction between Rap1 and KRIT1 is required for KRIT1 function in cardiovascular development.
      Title: A mechanism of Rap1-induced stabilization of endothelial cell--cell junctions.
    5. Ccm1 has been identified as a key angiogenic modulator in microvascular tubulogenesis.
      Title: Ccm1 regulates microvascular morphogenesis during angiogenesis.
    6. Zebrafish embryos with the recessive lethal mutations santa (san) and valentine (vtn) do not thicken, but do add the proper number of cells to the myocardium.
      Title: santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    acts_upstream_of_or_within angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within anterior/posterior axis specification IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within atrioventricular valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel lumenization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell redox homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in developmental process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within endocardial cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within endothelial cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart contraction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of establishment of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within vacuole organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    krev interaction trapped protein 1
    Names
    ccm1
    cerebral cavernous malformations 1 protein homolog
    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.

    mRNA and Protein(s)

    1. NM_001317001.1 → NP_001303930.1  krev interaction trapped protein 1

      Status: VALIDATED

      Source sequence(s)
      CR855331, EB920540
      UniProtKB/Swiss-Prot
      B8JIZ5, F1REV3, Q0Z803
      UniProtKB/TrEMBL
      A0A0R4IW01, A0A8M1P212
      Related
      ENSDARP00000138856.1, ENSDART00000159206.2
      Conserved Domains (7) summary
      smart00295
      Location:419 → 638
      B41; Band 4.1 homologues
      cd00204
      Location:289 → 409
      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:634 → 733
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      pfam00373
      Location:519 → 638
      FERM_M; FERM central domain
      pfam12796
      Location:290 → 384
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30 → 197
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
      sd00045
      Location:289 → 316
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007130.7 Reference GRCz11 Primary Assembly

      Range
      45991058..46017829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199572.1: Suppressed sequence

      Description
      NM_199572.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F1REV3.1 GenPept UniProtKB/Swiss-Prot:F1REV3

    Gene LinkOut

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