Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: AIFM1 (apoptosis inducing factor mitochondria associated 1) Homo sapiens
Analyze
Symbol: AIFM1
Name: apoptosis inducing factor mitochondria associated 1
RGD ID: 731380
Description: Exhibits DNA binding activity; FAD binding activity; and NAD(P)H oxidase H2O2-forming activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; mitochondrion organization; and neuron differentiation. Localizes to mitochondrial intermembrane space and nucleus. Implicated in Charcot-Marie-Tooth disease X-linked recessive 4; X-linked deafness 5; and combined oxidative phosphorylation deficiency 6. Biomarker of Alzheimer's disease and dilated cardiomyopathy 1H.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIF; apoptosis inducing factor, mitochondria associated 1; apoptosis-inducing factor 1, mitochondrial; apoptosis-inducing factor, mitochondrion-associated, 1; auditory neuropathy, X-linked recessive 1; AUNX1; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; MGC111425; NADMR; NAMSD; Neuropathy, axonal motor-sensory, with deafness and mental retardation; neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome); PDCD8; programmed cell death 8 (apoptosis-inducing factor); SEMDHL; striatal apoptosis-inducing factor; testicular secretory protein Li 4
Orthologs:
Related Pseudogenes: AIFM1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX130,129,362 - 130,165,887 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX130,124,666 - 130,165,879 (-)EnsemblGRCh38hg38GRCh38
GRCh38X130,129,362 - 130,165,841 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,263,337 - 129,299,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,091,018 - 129,127,489 (-)NCBINCBI36hg18NCBI36
Build 34X128,988,871 - 129,025,343NCBI
CeleraX129,649,901 - 129,686,423 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,659,694 - 118,695,647 (-)NCBIHuRef
CHM1_1X129,174,949 - 129,211,491 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on AIFM1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731380
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-11-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.