• Gene id: 54586

Gene Summary

• Gene Symbol: EQTN   Gene   UCSC   Ensembl
• Aliases: AFAF, C9orf11, SPACA8
• Gene name: equatorin
• Alternate names: equatorin, Acrosome formation associated factor, acrosome formation-associated factor, equatorin, sperm acrosome associated, sperm acrosome associated 8,
• Gene location: 9p21.2 (27297149: 27284653)     Exons: 9     NC_000009.12
• OMIM: 617653

Protein Summary

• Protein general information: Q9NQ60  
  • Name: Equatorin (Acrosome formation associated factor)
  • Length: 294  
  • Mass: 32840
  • Tissue specificity: Isoform 1 is highly expressed in testis. Isoform 2 is expressed at low levels in skin and blood. {ECO
• Sequence:

  MNFILFIFIPGVFSLKSSTLKPTIEALPNVLPLNEDVNKQEEKNEDHTPNYAPANEKNGNYYKDIKQYVFTTQNP
  NGTESEISVRATTDLNFALKNDKTVNATTYEKSTIEEETTTSEPSHKNIQRSTPNVPAFWTMLAKAINGTAVVMD
  DKDQLFHPIPESDVNATQGENQPDLEDLKIKIMLGISLMTLLLFVVLLAFCSATLYKLRHLSYKSCESQYSVNPE
  LATMSYFHPSEGVSDTSFSKSAESSTFLGTTSSDMRRSGTRTSESKIMTDIISIGSDNEMHENDESVTR

• Structural information:
  • Interpro: IPR029282  
  • STRING: ENSP00000369371
• Other Databases: GeneCards:  EQTN  Malacards:  EQTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060478	acrosomal vesicle exocytosis	IBA	biological process
GO:0007342	fusion of sperm to egg plasma membrane involved in single fertilization	IBA	biological process
GO:0002081	outer acrosomal membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0002080	acrosomal membrane	IBA	cellular component
GO:0002079	inner acrosomal membrane	IBA	cellular component
GO:0002081	outer acrosomal membrane	ISS	cellular component
GO:0002079	inner acrosomal membrane	ISS	cellular component
GO:0007342	fusion of sperm to egg plasma membrane involved in single fertilization	IEA	biological process
GO:0060478	acrosomal vesicle exocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002081	outer acrosomal membrane	IEA	cellular component
GO:0002079	inner acrosomal membrane	IEA	cellular component
GO:0002080	acrosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Associated with male fertility and sperm-egg adhesion	MIK: 30328350
Male fertility and sperm-egg adhesion	MIK: 30328350
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
30328350	Associated with male fertility and sperm-egg adhesion				Male infertility