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Aifm1 Gene Detail
Summary
  • Symbol
    Aifm1
  • Name
    apoptosis-inducing factor, mitochondrion-associated 1
  • Synonyms
    AIF, AIFsh2, apoptosis-inducing factor, Pdcd8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349419
    NCBI Gene: 26926
  • Gene Overview
    MyGene.info: AIFM1
Location & Maps
more
  • Sequence Map
    ChrX:48474944-48513563 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      38620 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 25.68 cM, cytoband A6
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    AIFM1, apoptosis inducing factor, mitochondria associated 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AIFM1, apoptosis inducing factor, mitochondria associated 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AIF, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8
  • Links
    NCBI Gene ID: 9131
    neXtProt AC: NX_O95831

  • Chr Location
    Xq26.1; chrX:130129362-130165887 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3100
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: AIFM1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human AIFM1 associations

Human Disease Mouse Models
       Cowchock Syndrome; COWCK   OMIM: 310490
Deafness, X-Linked 5; DFNX5   OMIM: 300614
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    76 phenotypes from 6 alleles in 7 genetic backgrounds
    4 phenotypes from multigenic genotypes
    2 images
    41 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Gene trapped
    3
  • Spontaneous
    1
  • Targeted
    7
  • Incidental Mutations
Hemizygous males and homozygous females exhibit variable levels of hair loss and late-onset, progressive, neural degeneration with ataxia, tremors, and loss of cerebellar and retinal cells. The degree of hair loss and ataxia in heterozygous females correlates with the extent of X-inactivation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017542 VEGA Gene Model | MGI Sequence Detail 38620 C57BL/6J ±  kb
transcript OTTMUST00000042630 VEGA | MGI Sequence Detail 2237 Not Applicable  
polypeptide OTTMUSP00000019157 VEGA | MGI Sequence Detail 612 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    83 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003868 apoptosis-inducing factor 1, mitochondrial
  • PDB
  • EC
  • InterPro Domains
    IPR016156 FAD/NAD-linked reductase, dimerisation domain
    IPR023753 FAD/NAD(P)-binding domain
    IPR029324 Mitochondrial apoptosis-inducing factor, C-terminal domain
    IPR032773 Protein MGARP, N-terminal
    IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
Molecular
Reagents
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  • All nucleic 101
    cDNA 100
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10928, MGI:96222
References
more
  • Summaries
    All 102
    Developmental Gene Expression 7
    Gene Ontology 20
    Phenotypes 41
  • Earliest
    J:15073 Barber BR, Two new mutations. Mouse News Lett. 1971;45:34-5
  • Latest
    J:202975 Mashimo M, et al., ADP-ribosyl-acceptor hydrolase 3 regulates poly (ADP-ribose) degradation and cell death during oxidative stress. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):18964-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory