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AIFM1

GENERAL INFORMATION

Gene name

 AIFM1

Gene description

 Apoptosis-inducing factor, mitochondrion-associated, 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General granular cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA030611 , CAB003764
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and mental retardation. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

Chromosome

 X

Cytoband

 q26.1

Chromosome location (bp)

 130129362 - 130165887

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000156709 (version 83.38)

Entrez gene

 9131

UniProt

 O95831 (UniProt - Evidence at protein level)

neXtProt

 NX_O95831

Antibodypedia

 AIFM1 antibodies

PROTEIN BROWSER
AIFM1-001
AIFM1-002
AIFM1-003
AIFM1-004
AIFM1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AIFM1-001
ENSP00000287295
ENST00000287295
O95831 [Direct mapping]
Apoptosis-inducing factor 1, mitochondrial
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002931 [response to ischemia]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0005829 [cytosol]
GO:0006308 [DNA catabolic process]
GO:0006309 [apoptotic DNA fragmentation]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0009055 [electron carrier activity]
GO:0009636 [response to toxic substance]
GO:0010942 [positive regulation of cell death]
GO:0016174 [NAD(P)H oxidase activity]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0030182 [neuron differentiation]
GO:0030261 [chromosome condensation]
GO:0032981 [mitochondrial respiratory chain complex I assembly]
GO:0043065 [positive regulation of apoptotic process]
GO:0043525 [positive regulation of neuron apoptotic process]
GO:0045454 [cell redox homeostasis]
GO:0046983 [protein dimerization activity]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0051402 [neuron apoptotic process]
GO:0055114 [oxidation-reduction process]
GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress]
GO:0070301 [cellular response to hydrogen peroxide]
GO:0071392 [cellular response to estradiol stimulus]
GO:0071732 [cellular response to nitric oxide]
GO:0071949 [FAD binding]
GO:0090650 [cellular response to oxygen-glucose deprivation]
GO:1902065 [response to L-glutamate]
GO:1902510 [regulation of apoptotic DNA fragmentation]
GO:1904045 [cellular response to aldosterone]
Show all
 613 aa
66.9 kDa 		No 0
AIFM1-002
ENSP00000315122
ENST00000319908
O95831 [Direct mapping]
Apoptosis-inducing factor 1, mitochondrial
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0005829 [cytosol]
GO:0006308 [DNA catabolic process]
GO:0006309 [apoptotic DNA fragmentation]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0009055 [electron carrier activity]
GO:0016174 [NAD(P)H oxidase activity]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0030182 [neuron differentiation]
GO:0030261 [chromosome condensation]
GO:0032981 [mitochondrial respiratory chain complex I assembly]
GO:0043065 [positive regulation of apoptotic process]
GO:0045454 [cell redox homeostasis]
GO:0046983 [protein dimerization activity]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0055114 [oxidation-reduction process]
GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress]
Show all
 609 aa
66.3 kDa 		No 1
AIFM1-003
ENSP00000316320
ENST00000346424
O95831 [Direct mapping]
Apoptosis-inducing factor 1, mitochondrial
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0005829 [cytosol]
GO:0006308 [DNA catabolic process]
GO:0006309 [apoptotic DNA fragmentation]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0009055 [electron carrier activity]
GO:0016174 [NAD(P)H oxidase activity]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0030182 [neuron differentiation]
GO:0030261 [chromosome condensation]
GO:0032981 [mitochondrial respiratory chain complex I assembly]
GO:0043065 [positive regulation of apoptotic process]
GO:0045454 [cell redox homeostasis]
GO:0046983 [protein dimerization activity]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0055114 [oxidation-reduction process]
GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress]
Show all
 326 aa
35.6 kDa 		No 0
AIFM1-004
ENSP00000431222
ENST00000460436
E9PMA0 [Direct mapping]
Apoptosis-inducing factor 1, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005623 [cell]
GO:0016491 [oxidoreductase activity]
GO:0045454 [cell redox homeostasis]
GO:0046983 [protein dimerization activity]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0055114 [oxidation-reduction process]
Show all
 274 aa
29.9 kDa 		No 0
AIFM1-201
ENSP00000446113
ENST00000535724
O95831 [Direct mapping]
Apoptosis-inducing factor 1, mitochondrial
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0005829 [cytosol]
GO:0006308 [DNA catabolic process]
GO:0006309 [apoptotic DNA fragmentation]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0009055 [electron carrier activity]
GO:0016174 [NAD(P)H oxidase activity]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0030182 [neuron differentiation]
GO:0030261 [chromosome condensation]
GO:0032981 [mitochondrial respiratory chain complex I assembly]
GO:0043065 [positive regulation of apoptotic process]
GO:0045454 [cell redox homeostasis]
GO:0046983 [protein dimerization activity]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055114 [oxidation-reduction process]
GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress]
Show all
 324 aa
35.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.