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 zebrafish

Gene Tree: Aifm1

Human homologs

Human Homolog		AIFM1, apoptosis-inducing factor, mitochondrion-associated, 1
NCBI Gene ID		9131
neXtProt AC		NX_O95831
Human Synonyms		AIF, CMTX4, COWCK, COXPD6, PDCD8
Human Chr (Location)		Xq26.1; chrX:129263337-129299861 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human AIFM1

Alleles and phenotypes

All alleles(9) : Targeted(5) Gene trapped(3) Spontaneous(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (30 annotations)

Process	activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic DNA fragmentation, ...
Component	cytoplasm, cytosol, ...
Function	DNA binding, electron-transferring-flavoprotein dehydrogenase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (36)    Tissues (2)   
Theiler Stages: 2, 3

Assay Type	Results
RT-PCR	36

cDNA source data(100)
External Resources: Allen Institute   GEO   ArrayExpress

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
DoTS	DT.111035170, DT.40160452, DT.91323981, DT.94357285
NIA Mouse Gene Index	U039356
EC	1.-.-.-
PDB	1GV4, 3GD3, 3GD4
Consensus CDS Project	CCDS30109.1
International Mouse Knockout Project Status	Aifm1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017542	VEGA Gene Model | MGI Sequence Detail	38620	C57BL/6J
transcript	OTTMUST00000042630	VEGA | MGI Sequence Detail	2237	Not Applicable
polypeptide	OTTMUSP00000019157	VEGA | MGI Sequence Detail	612	Not Applicable

All sequences(46) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(66 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR013027	FAD-dependent pyridine nucleotide-disulphide oxidoreductase
InterPro	IPR016156	FAD/NAD-linked reductase, dimerisation
InterPro	IPR004099	Pyridine nucleotide-disulphide oxidoreductase, dimerisation
InterPro	IPR023753	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain
InterPro	IPR001327	Pyridine nucleotide-disulphide oxidoreductase, NAD-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:192575 Germain M, et al., LKB1-regulated adaptive mechanisms are essential for neuronal survival following mitochondrial dysfunction. Hum Mol Genet. 2013 Mar 1;22(5):952-62
All references(99)

Other accession IDs

MGD-MRK-10928, MGI:96222