help  | about  | cite  | software

Gene : AIFM1 Homo sapiens

Name  ? apoptosis inducing factor mitochondria associated 1 Cytological Location  Xq26.1
Brief Description  apoptosis inducing factor mitochondria associated 1
description  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 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]
  • synonyms:
  • OTTHUMG00000022392,
  • DFNX5,
  • programmed cell death 8 (apoptosis-inducing factor),
  • NAMSD,
  • AF100928,
  • AIF,
  • HGNC:8768,
  • CMT2D,
  • NM_001130846,
  • uc004evg.4,
  • apoptosis-inducing factor, mitochondrion-associated, 1,
  • CMTX4,
  • NADMR,
  • apoptosis inducing factor, mitochondria associated 1,
  • PDCD8,
  • AIFM1,
  • neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome),
  • CMTX4,
  • COXPD6,
  • PDCD8,
  • COWCK,
  • AIF,
  • NAMSD
  • identifiers:
  • 9131,
  • ENSG00000156709,
  • AIFM1

Genome feature

Region: gene ? Length: 36526  
Location: X:130129362-130165887 reverse strand Cyto location: Xq26.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

1 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

1 Pathways

228 SN Ps

6 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results