• Gene id: 23294

Gene Summary

• Gene Symbol: ANKS1A   Gene   UCSC   Ensembl
• Aliases: ANKS1
• Gene name: ankyrin repeat and sterile alpha motif domain containing 1A
• Alternate names: ankyrin repeat and SAM domain-containing protein 1A, Odin, ankyrin repeat and SAM domain containing 1,
• Gene location: 6p21.31 (34889254: 35097991)     Exons: 29     NC_000006.12
• OMIM: 608994

Protein Summary

• Protein general information: Q92625  
  • Name: Ankyrin repeat and SAM domain containing protein 1A (Odin)
  • Length: 1134  
  • Mass: 123108
  • Tissue specificity: Widely expressed (at protein level).
• Sequence:

  MGKEQELLEAARTGHLPAVEKLLSGKRLSSGFGGGGGGGSGGGGGGSGGGGGGLGSSSHPLSSLLSMWRGPNVNC
  VDSTGYTPLHHAALNGHKDVVEVLLRNDALTNVADSKGCYPLHLAAWKGDAQIVRLLIHQGPSHTRVNEQNNDNE
  TALHCAAQYGHTEVVKVLLEELTDPTMRNNKFETPLDLAALYGRLEVVKMLLNAHPNLLSCNTKKHTPLHLAARN
  GHKAVVQVLLDAGMDSNYQTEMGSALHEAALFGKTDVVQILLAAGTDVNIKDNHGLTALDTVRELPSQKSQQIAA
  LIEDHMTGKRSTKEVDKTPPPQPPLISSMDSISQKSQGDVEKAVTELIIDFDANAEEEGPYEALYNAISCHSLDS
  MASGRSSDQDSTNKEAEAAGVKPAGVRPRERPPPPAKPPPDEEEEDHIDKKYFPLTASEVLSMRPRIHGSAAREE
  DEHPYELLLTAETKKVVLVDGKTKDHRRSSSSRSQDSAEGQDGQVPEQFSGLLHGSSPVCEVGQDPFQLLCTAGQ
  SHPDGSPQQGACHKASMQLEETGVHAPGASQPSALDQSKRVGYLTGLPTTNSRSHPETLTHTASPHPGGAEEGDR
  SGARSRAPPTSKPKAELKLSRSLSKSDSDLLTCSPTEDATMGSRSESLSNCSIGKKRLEKSPSFASEWDEIEKIM
  SSIGEGIDFSQERQKISGLRTLEQSVGEWLESIGLQQYESKLLLNGFDDVHFLGSNVMEEQDLRDIGISDPQHRR
  KLLQAARSLPKVKALGYDGNSPPSVPSWLDSLGLQDYVHSFLSSGYSSIDTVKNLWELELVNVLKVQLLGHRKRI
  IASLADRPYEEPPQKPPRFSQLRCQDLLSQTSSPLSQNDSCTGRSADLLLPPGDTGRRRHDSLHDPAAPSRAERF
  RIQEEHREAKLTLRPPSLAAPYAPVQSWQHQPEKLIFESCGYEANYLGSMLIKDLRGTESTQDACAKMRKSTEHM
  KKIPTIILSITYKGVKFIDASNKNVIAEHEIRNISCAAQDPEDLCTFAYITKDLQTSHHYCHVFSTVDVNLTYEI
  ILTLGQAFEVAYQLALQAQKSRATGASAAEMIETKSSKPVPKPRVGVRKSALEPPDMDQDAQSHASVSWVVDPKP
  DSKRSLSTN

• Structural information:
  • Protein Domains: (696..76-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (770..83-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (936..109-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR033637  IPR002110  IPR020683  IPR036770  IPR011993   IPR006020  IPR001660  IPR013761  IPR041880  IPR041882  
  • Prosite: PS50297 PS50088 PS01179 PS50105
  • CDD: cd09499 cd09500
  • PDB: 2LMR 2MYQ 6F7O
  • PDBsum: 2LMR 2MYQ 6F7O
  • STRING: ENSP00000353518
• Other Databases: GeneCards:  ANKS1A  Malacards:  ANKS1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0046875	ephrin receptor binding	IBA	molecular function
GO:0048013	ephrin receptor signaling pathway	IBA	biological process
GO:0048013	ephrin receptor signaling pathway	ISS	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0016322	neuron remodeling	ISS	biological process
GO:0006929	substrate-dependent cell migration	ISS	biological process
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:1901187	regulation of ephrin receptor signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray