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Description for Protein AIFM1

apoptosis-inducing factor, mitochondrion-associated, 1
18 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(microparticles: 1; platelet: 5)
Summary:
This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.-.-.-
    KEGG - Orthology:
    K04727
    KEGG - Pathway(s):
    hsa04210
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Apoptosis-inducing factor; AIF; Programmed cell death protein 8, mitochondrial; Programmed cell death 8 isoform 2; Programmed cell death 8 isoform 3; Programmed cell death 8 isoform 1
    Approved Symbol:
    AIFM1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; 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):

  • Flavin-Adenine Dinucleotide(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 1
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02161 Entrez Gene ID: 9131 OMIM ID: 300169 Swissprot Accession: Q1L6K6; O95831; Q2QKE4;