• Gene id: 92565

Gene Summary

• Gene Symbol: FANK1   Gene   UCSC   Ensembl
• Aliases: HSD13
• Gene name: fibronectin type III and ankyrin repeat domains 1
• Alternate names: fibronectin type 3 and ankyrin repeat domains protein 1, fibronectin type 3 and ankyrin repeat domains 1,
• Gene location: 10q26.2 (125896222: 126009598)     Exons: 22     NC_000010.11
• OMIM: 603562

Protein Summary

• Protein general information: Q8TC84  
  • Name: Fibronectin type 3 and ankyrin repeat domains protein 1
  • Length: 345  
  • Mass: 38341
  • Tissue specificity: Mostly restricted to testis. {ECO
• Sequence:

  MEPQKIMPPSKPHPPVVGKVTHHSIELYWDLEKKAKRQGPQEQWFRFSIEEEDPKMHTYGIIYTGYATKHVVEGL
  EPRTLYRFRLKVTSPSGECEYSPLVSVSTTREPISSEHLHRAVSVNDEDLLVRILQGGRVKVDVPNKFGFTALMV
  AAQKGYTRLVKILVSNGTDVNLKNGSGKDSLMLACYAGHLDVVKYLRRHGASWQARDLGGCTALHWAADGGHCSV
  IEWMIKDGCEVDVVDTGSGWTPLMRVSAVSGNQRVASLLIDAGANVNVKDRNGKTPLMVAVLNNHEELVQLLLDK
  GADASVKNEFGKGVLEMARVFDRQSVVSLLEERKKKQRPKKSCVC

• Structural information:
  • Protein Domains: (8..10-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR003961  IPR036116   IPR013783  
  • Prosite: PS50297 PS50088 PS50853
  • CDD: cd00063
  • STRING: ENSP00000357682
• Other Databases: GeneCards:  FANK1  Malacards:  FANK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0000785	chromatin	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051091	positive regulation of DNA-binding transcription factor activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097546	ciliary base	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray