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Aifm1
Gene Detail
Symbol

Name
ID
Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
MGI:1349419
Synonyms
AIF, AIFsh2, apoptosis-inducing factor, Pdcd8
Feature Type
protein coding gene
Genetic Map
Chromosome X
25.68 cM, cytoband A6
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
ChrX:48474944-48513563 bp, - strand
From VEGA annotation of GRCm38

  38620 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3100  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: AIFM1
Gene Tree: Aifm1

Human
homologs
AIFM1, apoptosis-inducing factor, mitochondrion-associated, 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 9131
neXtProt AC: NX_O95831

Human Synonyms: AIF, CMT2D, CMTX4, COWCK, COXPD6, NADMR, NAMSD, PDCD8

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

Disease Associations: (1) Diseases Associated with Human AIFM1

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(3) Spontaneous(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Phenotype Images(2)
Interactions
Aifm1 interacts with 96 markers (Mir15b, Mir17, Mir19a, ...)
Expression
Literature Summary: (7 records)
Data Summary: Results (48)    Tissues (6)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
Western blot 8
RT-PCR 36
cDNA source data(100)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase aifm1 ; ZFIN aifm1    NEW 
Molecular
reagents
All nucleic(101) cDNA(100) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000017542 (Evidence)
Ensembl Gene Model ENSMUSG00000036932 (Evidence)
Entrez Gene 26926 (Evidence)
UniGene 240434
DFCI TC1574683, TC1596002, TC1626960, TC1659569
DoTS DT.111035170, DT.40160452, DT.91323981, DT.94357285
NIA Mouse Gene Index U039356
EC 1.1.1.-
PDB 1GV4, 3GD3, 3GD4
Consensus CDS Project CCDS30109.1, CCDS72375.1
International Mouse Phenotyping Consortium Status Aifm1
Sequences
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 sequences
All sequences(48) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(84 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016156 FAD/NAD-linked reductase, dimerisation domain
InterPro IPR029324 Mitochondrial apoptosis-inducing factor, C-terminal domain
InterPro IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
InterPro IPR023753 Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain
Protein Ontology PR:000003868 apoptosis-inducing factor 1, mitochondrial
References
(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
All references(105)
Other
accession IDs
MGD-MRK-10928, MGI:96222

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
08/25/2015
MGI 6.0
The Jackson Laboratory