AIFM1

GENE INFORMATION

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Gene name

AIFM1 (HGNC Symbol)

Synonyms

AIF, PDCD8

Description

apoptosis-inducing factor, mitochondrion-associated, 1 (HGNC Symbol)

Entrez gene summary

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, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010]

Chromosome

X (Chromosome progress)

Cytoband

q26.1

Chromosome location (bp)

129263337 - 129299861

Ensembl

ENSG00000156709 (version 73.37)

Entrez gene

9131

UniProt

O95831 (UniProt - Evidence at protein level)

neXtProt

NX_O95831

Antibodypedia

AIFM1 antibodies
 

PROTEIN VIEW

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AIFM1-001
 
AIFM1-002
 
AIFM1-003
 
AIFM1-004
 
AIFM1-005
 
AIFM1-006
 
AIFM1-007
 
AIFM1-201
 
AIFM1-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AIFM1-001 ENSP00000287295
ENST00000287295
O95831
Show all »
Show » Show » 613 66.9 No 0
AIFM1-002 ENSP00000315122
ENST00000319908
O95831
Show all »
Show » Show » 609 66.3 No 1
AIFM1-003 ENSP00000316320
ENST00000346424
O95831
Show all »
Show » 326 35.6 No 0
AIFM1-004 ENSP00000431222
ENST00000460436
E9PMA0
Show all »
Show » 274 29.9 No 0
AIFM1-005 ENSP00000402535
ENST00000416073
O95831
Show all »
Show » Show » 324 35.4 No 0
AIFM1-006 ENSP00000435955
ENST00000527892
E9PRR0
Show all »
43 4.8 No 0
AIFM1-007 ENSP00000432998
ENST00000529877
E9PMQ8
Show all »
Show » 89 9.5 No 1
AIFM1-201 ENSP00000405879
ENST00000440263
O95831
Show all »
Show » 261 28.4 No 0
AIFM1-202 ENSP00000446113
ENST00000535724
Q1L6K4
Show all »
Show » Show » 237 26 No 0