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

Gene ID: 92565, updated on 2-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
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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 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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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

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