AIFM1

GENERAL INFORMATION

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Gene name

AIFM1

Gene description

Apoptosis-inducing factor, mitochondrion-associated, 1

Protein class

Disease related genes
Mitochondrial proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General granular cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA030611 , CAB003764
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

AIFM1 (HGNC Symbol)

Synonyms

AIF, CMTX4, NAMSD, 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

Cytoband

q26.1

Chromosome location (bp)

130129362 - 130165887

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000156709 (version 78.38)

Entrez gene

9131

UniProt

O95831 (UniProt - Evidence at protein level)

neXtProt

NX_O95831

Antibodypedia

AIFM1 antibodies


PROTEIN BROWSER

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ENST00000287295
 
ENST00000319908
 
ENST00000346424
 
ENST00000460436
 
ENST00000535724
 
 
 
 


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 » Show » 326 35.6 No 0
AIFM1-004 ENSP00000431222
ENST00000460436
E9PMA0
Show all »
Show » Show » 274 29.9 No 0
AIFM1-201 ENSP00000446113
ENST00000535724
O95831
Show all »
Show » Show » 324 35.4 No 0