FANK1 (fibronectin type III and ankyrin repeat domains 1)

Gene

• Entrez ID: 92565
• Gene name: Fibronectin type III and ankyrin repeat domains 1
• Gene symbol: FANK1
• Synonyms (NCBI Gene): HSD13
• Chromosome: 10
• Chromosome location: 10q26.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1993132	hsa-miR-298	CLIP-seq
MIRT1993132	hsa-miR-298	CLIP-seq
MIRT2227035	hsa-miR-3943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	20978819
GO:0005515	Function	Protein binding	IPI	20978819, 27060496, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20978819, 27060496
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	27060496
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	20978819
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	27060496
GO:0043066	Process	Negative regulation of apoptotic process	IMP	20978819
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	27060496
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IMP	20978819
GO:0097546	Component	Ciliary base	IEA

Other IDs

• MIM: 611640
• HGNC: 23527
• e!Ensembl: ENSG00000203780

Protein

• UniProt ID: Q8TC84
• Protein name: Fibronectin type 3 and ankyrin repeat domains protein 1
• Protein function: Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	114 → 207	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	161 → 240	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	181 → 275	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	214 → 308	Ankyrin repeats (3 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Mostly restricted to testis. {ECO:0000269|PubMed:17604233}.
• Sequence:

  MEPQKIMPPSKPHPPVVGKVTHHSIELYWDLEKKAKRQGPQEQWFRFSIEEEDPKMHTYG
  IIYTGYATKHVVEGLEPRTLYRFRLKVTSPSGECEYSPLVSVSTTREPISSEHLHRAVSV
  NDEDLLVRILQGGRVKVDVPNKFGFTALMVAAQKGYTRLVKILVSNGTDVNLKNGSGKDS
  LMLACYAGHLDVVKYLRRHGASWQARDLGGCTALHWAADGGHCSVIEWMIKDGCEVDVVD
  TGSGWTPLMRVSAVSGNQRVASLLIDAGANVNVKDRNGKTPLMVAVLNNHEELVQLLLDK
  GADASVKNEFGKGVLEMARVFDRQSVVSLLEERKKKQRPKKSCVC

• Sequence length: 345

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	35589867	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33819739	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28270440		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	38259468	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28270440		★☆☆☆☆ Found in Text Mining only