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Description for Protein ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K07556
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
ATP12; ATP12p; MGC29736
Approved Symbol:
ATPAF2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • ATPAF2 deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 10599 Entrez Gene ID: 91647 OMIM ID: 608918 Swissprot Accession: Q8N5M1;