• Gene id: 64756

Gene Summary

• Gene Symbol: ATPAF1   Gene   UCSC   Ensembl
• Aliases: ATP11, ATP11p
• Gene name: ATP synthase mitochondrial F1 complex assembly factor 1
• Alternate names: ATP synthase mitochondrial F1 complex assembly factor 1, homolog of yeast ATP11,
• Gene location: 1p33 (46668426: 46635038)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. A
• OMIM: 608917

Protein Summary

• Protein general information: Q5TC12  
  • Name: ATP synthase mitochondrial F1 complex assembly factor 1 (ATP11 homolog)
  • Length: 328  
  • Mass: 36437
  • Tissue specificity: Weakly expressed in muscle. {ECO
• Sequence:

  MAAVVVAAAGGAGPAVLQVAGLYRGLCAVRSRALGLGLVSPAQLRVFPVRPGSGRPEGGADSSGVGAEAELQANP
  FYDRYRDKIQLLRRSDPAAFESRLEKRSEFRKQPVGHSRQGDFIKCVEQKTDALGKQSVNRGFTKDKTLSSIFNI
  EMVKEKTAEEIKQIWQQYFAAKDTVYAVIPAEKFDLIWNRAQSCPTFLCALPRREGYEFFVGQWTGTELHFTALI
  NIQTRGEAAASQLILYHYPELKEEKGIVLMTAEMDSTFLNVAEAQCIANQVQLFYATDRKETYGLVETFNLRPNE
  FKYMSVIAELEQSGLGAELKCAQNQNKT

• Structural information:
  • Interpro: IPR010591  
  • STRING: ENSP00000460964
• Other Databases: GeneCards:  ATPAF1  Malacards:  ATPAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033615	mitochondrial proton-transporting ATP synthase complex assembly	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881