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    FANK1 fibronectin type III and ankyrin repeat domains 1 [ Homo sapiens (human) ]

    Gene ID: 92565, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FANK1provided by HGNC
    Official Full Name
    fibronectin type III and ankyrin repeat domains 1provided by HGNC
    Primary source
    HGNC:HGNC:23527
    See related
    Ensembl:ENSG00000203780 MIM:611640; AllianceGenome:HGNC:23527
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSD13
    Summary
    Involved in regulation of DNA-templated transcription and regulation of apoptotic process. Located in chromatin; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 5.5), thyroid (RPKM 1.2) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FANK1 in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (125896564..126009592)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (126779041..126892088)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127585133..127698161)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:127511755-127512440 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127512660-127512879 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127541940-127542119 Neighboring gene BRCA2 and CDKN1A interacting protein Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:127569451-127570173 Neighboring gene Sharpr-MPRA regulatory region 1957 Neighboring gene DEAH-box helicase 32 (putative) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2928 Neighboring gene Sharpr-MPRA regulatory region 15703 Neighboring gene RNA, U2 small nuclear 42, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127623020-127623520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2929 Neighboring gene FANK1 antisense RNA 1 Neighboring gene G protein subunit gamma 10 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127731483-127732140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127737867-127738367 Neighboring gene ADAM metallopeptidase domain 12 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:127763214-127764413 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:127823747-127824946 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:127836493-127836992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127845814-127846314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127846315-127846815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127850913-127851413 Neighboring gene RNA, 5S ribosomal pseudogene 328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127863169-127863692 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127889000-127889180 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:127935743-127936942 Neighboring gene secretion associated Ras related GTPase 1A pseudogene 2

    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
    • 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. [Contact Sites of rDNA Clusters with FANK1 Gene Correspond to Repressed Chromatin]. Kretova OV, et al. Mol Biol (Mosk), 2020 Mar-Apr. PMID 32392195
    2. A model-based approach for identifying signatures of ancient balancing selection in genetic data. DeGiorgio M, et al. PLoS Genet, 2014 Aug. PMID 25144706, Free PMC Article
    3. YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner. Zhang S, et al. Biochem Biophys Res Commun, 2021 May 21. PMID 33784512
    4. Fank1 is a testis-specific gene encoding a nuclear protein exclusively expressed during the transition from the meiotic to the haploid phase of spermatogenesis. Zheng Z, et al. Gene Expr Patterns, 2007 Aug. PMID 17604233
    5. Targeting the fibronectin type III repeats in tenascin-C inhibits epithelial-mesenchymal transition in the context of posterior capsular opacification. Tiwari A, et al. Invest Ophthalmol Vis Sci, 2014 Dec 16. PMID 25515583

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner.
      Title: YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner.
    2. [Contact Sites of rDNA Clusters with FANK1 Gene Correspond to Repressed Chromatin].
      Title: [Contact Sites of rDNA Clusters with FANK1 Gene Correspond to Repressed Chromatin].
    3. RYBP activates FANK1-mediated activator protein 1 (AP-1) signaling pathway which contributes to tumor cell apoptosis.
      Title: Proapoptotic RYBP interacts with FANK1 and induces tumor cell apoptosis through the AP-1 signaling pathway.
    4. we find evidence for many novel candidates, the strongest of which is FANK1, an imprinted gene that suppresses apoptosis, is expressed during meiosis in males.
      Title: A model-based approach for identifying signatures of ancient balancing selection in genetic data.
    5. the TNfnIII 1-5 repeats play an important role in PCO pathology.
      Title: Targeting the fibronectin type III repeats in tenascin-C inhibits epithelial-mesenchymal transition in the context of posterior capsular opacification.
    6. found that Jab1 (Jun activation domain-binding protein 1), a co-activator of AP-1, specifically interacted with Fank1
      Title: Fank1 interacts with Jab1 and regulates cell apoptosis via the AP-1 pathway.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    9. FANK1 may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis
      Title: Fank1 is a testis-specific gene encoding a nuclear protein exclusively expressed during the transition from the meiotic to the haploid phase of spermatogenesis.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary base IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    fibronectin type 3 and ankyrin repeat domains protein 1
    Names
    fibronectin type 3 and ankyrin repeat domains 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001350939.2 → NP_001337868.1  fibronectin type 3 and ankyrin repeat domains protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY358154, CA432498
      Conserved Domains (4) summary
      smart00060
      Location:9 → 93
      FN3; Fibronectin type 3 domain
      cd00204
      Location:197 → 324
      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 ...
      sd00045
      Location:202 → 233
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:140 → 233
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001363549.2 → NP_001350478.1  fibronectin type 3 and ankyrin repeat domains protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC063963, AL360176
      Related
      ENSP00000357680.1, ENST00000368691.5
      Conserved Domains (4) summary
      smart00060
      Location:3 → 87
      FN3; Fibronectin type 3 domain
      cd00204
      Location:165 → 292
      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 ...
      sd00045
      Location:170 → 201
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:108 → 201
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_145235.5 → NP_660278.3  fibronectin type 3 and ankyrin repeat domains protein 1 isoform 2

      See identical proteins and their annotated locations for NP_660278.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) has the same N- and C-termini, but is shorter than isoform 1.
      Source sequence(s)
      BC024189, BQ225468, HY035204
      Consensus CDS
      CCDS31309.1
      UniProtKB/Swiss-Prot
      Q6UXY9, Q6X7T6, Q8TC84
      Related
      ENSP00000357682.1, ENST00000368693.6
      Conserved Domains (6) summary
      smart00060
      Location:9 → 93
      FN3; Fibronectin type 3 domain
      cd00204
      Location:171 → 298
      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 ...
      pfam00023
      Location:144 → 174
      Ank; Ankyrin repeat
      pfam12796
      Location:148 → 240
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:113 → 164
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:176 → 207
      ANK; ANK repeat [structural motif]

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      125896564..126009592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      126779041..126892088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC84.3 GenPept UniProtKB/Swiss-Prot:Q8TC84

    Gene LinkOut

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

    Other Literature Sources
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