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

Summary

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, Dec 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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
[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].
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
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.

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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 EBI GWAS CatalogPubMed

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

D21S1278 (e-PCR)
- UniSTS:148739

RH46156 (e-PCR)
- UniSTS:61700

G18008 (e-PCR)
- UniSTS:41254

SHGC-153394 (e-PCR)
- UniSTS:177720

SHGC-53755 (e-PCR)
- UniSTS:7998

ha3118 (e-PCR)
- UniSTS:515655

D14S943 (e-PCR)
- UniSTS:29018

REN44476 (e-PCR)
- UniSTS:369276

GDB:312730 (e-PCR)
- UniSTS:52428

WI-4721 (e-PCR)
- UniSTS:41195

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)

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)
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)
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]