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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AIFM1 Gene

protein-coding GIFtS: 64
GCID: GC0XM129263

apoptosis-inducing factor, mitochondrion-associated, 1

(Previous name: programmed cell death 8 (apoptosis-inducing factor) )
(Previous symbol: PDCD8)

Explore 70 diseases affiliated with
AIFM1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Apoptosis-Inducing Factor, Mitochondrion-Associated, 1¹ ²		COWCK²
AIF¹ ² ³ ⁵		Apoptosis-Inducing Factor 1, Mitochondrial²
PDCD8¹ ² ³ ⁵		Striatal Apoptosis-Inducing Factor²
Programmed Cell Death 8 (Apoptosis-Inducing Factor)¹ ²		EC 1.-.-.-³
COXPD6² ⁵		Programmed Cell Death Protein 8³
CMTX4²

External Ids:	HGNC: 8768¹	Entrez Gene: 9131²	Ensembl: ENSG00000156709⁷	OMIM: 300169⁵	UniProtKB: O95831³

Export aliases for AIFM1 gene to outside databases

Previous GC identifers: GC0XM129092 GC0XM118659

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AIFM1:

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)

UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831

Function: Probable oxidoreductase that has a dual role in controlling cellular life and death; during apoptosis, it is

translocated from the mitochondria to the nucleus to function as a proapoptotic factor in a caspase-independent

pathway, while in normal mitochondria, it functions as an antiapoptotic factor via its oxidoreductase activity. The

soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal

DNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to

amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed

cells. Binds to DNA in a sequence-independent manner

Gene Wiki entry for AIFM1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AIFM1 gene promoter:
ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AIFM1 promoter sequence

Search SABiosciences Chromatin IP Primers for AIFM1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AIFM1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq26.1 Ensembl cytogenetic band: Xq26.1 HGNC cytogenetic band: Xq26.1

AIFM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AIFM1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM129263: view genomic region (about GC identifiers)

Start:	129,263,337 bp from pter	End:	129,299,861 bp from pter
Size:	36,525 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831 (See protein sequence)

Recommended Name: Apoptosis-inducing factor 1, mitochondrial precursor

Size: 613 amino acids; 66901 Da

Cofactor: FAD

Subunit: Interacts with XIAP/BIRC4. Interacts (via N-terminus) with EIF3G (via C-terminus)

Subcellular location: Mitochondrion intermembrane space. Mitochondrion inner membrane. Cytoplasm. Nucleus. Cytoplasm,

perinuclear region. Note=Proteolytic cleavage during or just after translocation into the mitochondrial intermembrane

space (IMS) results in the formation of an inner-membrane-anchored mature form (AIFmit). During apoptosis, further

proteolytic processing leads to a mature form, which is confined to the mitochondrial IMS in a soluble form (AIFsol).

AIFsol is released to the cytoplasm in response to specific death signals, and translocated to the nucleus, where it

induces nuclear apoptosis. Colocalizes with EIF3G in the nucleus and perinuclear region

2 PDB 3D structures from and Proteopedia for AIFM1:

1M6I (3D)

4FDC (3D)

Secondary accessions: A4QPB4 B1ALN1 B2RB08 D3DTE9 Q1L6K6 Q2QKE4 Q5JUZ7 Q6I9X6 Q9Y3I3 Q9Y3I4

Alternative splicing: 5 isoforms: O95831-1 O95831-2 O95831-3 O95831-4 O95831-5 (Localizes in the cytoplasm)

Explore the universe of human proteins at neXtProt for AIFM1: NX_O95831

Post-translational modifications:

Under normal conditions, a 54-residue N-terminal segment is first proteolytically removed during or just after

translocation into the mitochondrial intermembrane space (IMS) by the mitochondrial processing peptidase (MPP) to form

the inner-membrane-anchored mature form (AIFmit). During apoptosis, it is further proteolytically processed at

amino-acid position 101 leading to the generation of the mature form, which is confined to the mitochondrial IMS in a

soluble form (AIFsol). AIFsol is released to the cytoplasm in response to specific death signals, and translocated to

the nucleus, where it induces nuclear apoptosis in a caspase-independent manner¹

Ubiquitination by XIAP/BIRC4 does not lead to proteasomal degradation. Ubiquitination at Lys-255 by XIAP/BIRC4 blocks

its ability to bind DNA and induce chromatin degradation, thereby inhibiting its ability to induce cell death¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95831

AIFM1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001124318.1 NP_001124319.1 NP_004199.1 NP_665811.1 NP_665812.1

ENSEMBL proteins:

ENSP00000431222 ENSP00000402535 ENSP00000435955 ENSP00000316320 ENSP00000315122

ENSP00000287295 ENSP00000432998 ENSP00000405879 ENSP00000446113

Human Recombinant Protein Products:

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	Novus Biologicals AIFM1 Proteins Novus Biologicals AIFM1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for AIFM1

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	ISS	--
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	TAS	9989411
GO:0005743	mitochondrial inner membrane	IEA	--

AIFM1 for ontologies About GeneDecksing

AIFM1 Antibody Products:

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	Novus Biologicals AIFM1 Antibodies
	Abcam antibodies for AIFM1
	Uscn Antibodies for AIFM1
	ThermoFisher Antibody for AIFM1

Assay Products for AIFM1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for AIFM1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for AIFM1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AIFM1 for domains About GeneDecksing

5 InterPro domains/families:

IPR013027 FAD_pyr_nucl-diS_OxRdtase

IPR004099 Pyr_nucl-diS_OxRdtase_dimer

IPR016156 FAD/NAD-linked_Rdtase_dimer

IPR001327 Pyr_OxRdtase_NAD-bd_dom

IPR023753 Pyr_nucl-diS_OxRdtase_FAD/NAD

Graphical View of Domain Structure for InterPro Entry O95831

ProtoNet protein and cluster: O95831

2 Blocks protein families:

IPB001327 Pyridine nucleotide-disulphide oxidoreductase

IPB013027 FAD-dependent pyridine nucleotide reductase signature

UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831

Similarity: Belongs to the FAD-dependent oxidoreductase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831

Function: Probable oxidoreductase that has a dual role in controlling cellular life and death; during apoptosis, it is

translocated from the mitochondria to the nucleus to function as a proapoptotic factor in a caspase-independent

pathway, while in normal mitochondria, it functions as an antiapoptotic factor via its oxidoreductase activity. The

soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal

DNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to

amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed

cells. Binds to DNA in a sequence-independent manner

Enzyme Number (IUBMB): EC 1.-.-.-¹

miRNA Products:		OriGene 3'-UTR Clone (see all 5): AIFM1 Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIFM1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005515	protein binding	IPI	--
GO:0009055	electron carrier activity	TAS	9989411
GO:0016491	oxidoreductase activity	IEA	--
GO:0050660	flavin adenine dinucleotide binding	IEA	--

AIFM1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Aifm1^tm2.1Pngr for AIFM1
     11 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Aifm1):

behavior/neurological	cardiovascular system	cellular	embryogenesis	growth/size
homeostasis/metabolism	integument	mortality/aging	muscle	nervous system
vision/eye

AIFM1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members

Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

0.24

Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins

0.24

Apoptosis and Autophagy

Apoptosis and Autophagy

1.00

Ceramide signaling pathway

Ceramide signaling pathway

1.00

14-3-3 Induced Apoptosis

Apoptosis

0.37

Apoptosis and survival_Apoptotic TNF-family pathways

Apoptosis Signaling Pathways

0.35

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AIFM1

Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

1 R&D Systems Pathway for AIFM1

Apoptosis Signaling Pathways

1 Cell Signaling Technology (CST) Pathway for AIFM1

Apoptosis and Autophagy

1 GeneGo (Thomson Reuters) Pathway for AIFM1

Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

2 BioSystems Pathways for AIFM1

	Apoptosis Modulation by HSP70
	Ceramide signaling pathway

1 Kegg Pathway (Kegg details for AIFM1):

Apoptosis

AIFM1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AIFM1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/357 Interacting proteins for AIFM1 (O95831^{1, 2, 3} ENSP00000287295⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 357)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EIF3G	O75821²^,³, ENSP00000253108⁴	MINT-3388512 MINT-3388489 MINT-3388414 MINT-3388563 MINT-3388584 MINT-3388603 MINT-3388464 MINT-3388536 MINT-3388652 I2D: score=2 STRING: ENSP00000253108
HSPA1B	P08107²^,³	MINT-13840 MINT-8079030 MINT-13841 I2D: score=7
STC2	O76061²^,³, ENSP00000265087⁴	MINT-64403 I2D: score=5 STRING: ENSP00000265087
TSC22D4	Q9Y3Q8¹^,³, ENSP00000300181⁴	EBI-2561858,EBI-739485 I2D: score=2 STRING: ENSP00000300181
SETDB1	Q15047²^,³	MINT-64404 I2D: score=5

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006309	apoptotic DNA fragmentation	IEA	--
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	17094969
GO:0030182	neuron differentiation	IDA	--
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	--
GO:0045454	cell redox homeostasis	IEA	--

AIFM1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AIFM1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AIFM1

1 HMDB Compound for AIFM1 About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--

1 DrugBank Compound for AIFM1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Flavin-Adenine Dinucleotide	--	146-14-5	target	--	17139284 17016423 10592235

10/59 Novoseek chemical compound relationships for AIFM1 gene (see all 59) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
z-vad-fmk	78	2	15094383 (1)
adpribose	73.5	17	15486061 (1), 18276737 (1), 15659217 (1), 16267832 (1) (see all 13)
ptpc	73	2	19693275 (2)
phosphatidylserine	65.8	7	17213804 (1), 15738311 (1), 16544097 (1), 18053973 (1) (see all 7)
n acetylcysteine	58.6	12	15486061 (1), 17846503 (1), 15964899 (1), 19874809 (1) (see all 7)
oxygen	52.4	30	19110029 (2), 12629154 (2), 15486061 (1), 18241839 (1) (see all 24)
ceramide	46	10	15905098 (2), 17471535 (1), 9206994 (1), 10744629 (1) (see all 7)
roscovitine	43.2	2	15591654 (1)
10-hydroxycamptothecin	42.6	12	16926123 (3), 16635299 (3)
curcumin	40.6	13	19693275 (3), 15205359 (2), 20358476 (2), 15661804 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about AIFM1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AIFM1 gene (5 alternative transcripts):

NM_001130846.2 NM_001130847.3 NM_004208.3 NM_145812.2 NM_145813.2

Unigene Cluster for AIFM1:

Apoptosis-inducing factor, mitochondrion-associated, 1

Hs.424932 [show with all ESTs]

Unigene Representative Sequence: NM_001130847

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000460436 ENST00000416073 ENST00000527892 ENST00000346424 ENST00000319908(uc004evh.3)

ENST00000287295(uc011mus.2 uc004evg.3 uc004evi.3 uc004evk.3)

ENST00000533719 ENST00000529877 ENST00000440263(uc011mur.2) ENST00000535724

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AIFM1

Additional cDNA sequence:

AF100928.1 AF131759.1 AK000775.1 AK314446.1 AL049703.1 AL049704.1 AY795556.1 AY795557.1

BC111065.1 BC139738.1 CR457379.1 DQ016496.2 DQ016498.1

13 DOTS entries:

DT.416157 DT.40282410 DT.95316624 DT.95319362 DT.100893284 DT.100757204 DT.92471187 DT.95316622

DT.100893286 DT.121278913 DT.75149829 DT.91974881 DT.97867069

24/345 AceView cDNA sequences (see all 345):

AA384219 AI753373 AI360370 BE887067 BQ772364 BQ581783 AL557331 BQ268360

AI352315 BU517321 BQ009846 BI835393 AL571252 BX114670 BQ001037 BM835413

AA846145 AK000775 BM708034 BM807180 AI950034 AI872396 AA913640 BQ012199

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for AIFM1 About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17
SP1:									-
SP2:											-
SP3:									-		-		-		-		-		-		-		-		-		-
SP4:

ECgene alternative splicing isoforms for AIFM1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AIFM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGACTGAAG

About this image
See AIFM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AIFM1

SOURCE GeneReport for Unigene cluster: Hs.424932

UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831

Tissue specificity: Isoform 5 is frequently down-regulated in human cancers

SABiosciences Expression via Pathway-Focused PCR Arrays including AIFM1:

Apoptosis 384HT in human mouse rat

Apoptosis in human mouse rat

Necrosis in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Cardiotoxicity in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the last universal common ancestor (LUCA).

Orthologs for AIFM1 gene from 10/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Aifm1^{1 , 5}	apoptosis-inducing factor, mitochondrion-associated more^{1, 5}	87.2(n)¹ 88.96(a)¹		X (25.68 cM)⁵ 26926¹ NM_012019.2¹ NP_036149.1¹ 48474944⁵
chicken (Gallus gallus)	Aves	AIFM1¹	apoptosis-inducing factor, mitochondrion-associated, more	74.83(n) 80.44(a)		428688 NM_001007490.1 NP_001007491.1
lizard (Anolis carolinensis)	Reptilia	AIFM1⁶	--	76(a)	1 ↔ 1	GL343451.1(350675-361598)
African clawed frog (Xenopus laevis)	Amphibia	BJ062826.1²	--	76.19(n)		BJ062826.1
zebrafish (Danio rerio)	Actinopterygii	pdcd8²	programmed cell death 8 (apoptosis-inducing factor)	75.91(n)		373125 AY423007.1
fruit fly (Drosophila melanogaster)	Insecta	AIF¹	Apoptosis inducing factor	53.91(n) 50.39(a)		33390 NM_164456.2 NP_722765.2
worm (Caenorhabditis elegans)	Secernentea	wah-1¹	Protein WAH-1	48.99(n) 40.69(a)		176635 NM_067163.3 NP_499564.2
thale cress (Arabidopsis thaliana)	eudicotyledons	ATMDAR3⁶ ATMDAR2⁶ (see all 5)	monodehydroascorbate reductase (NADH) (see all 5)	23(a) 21(a) (see all 5)	many → 1 many → 1 (see all 5)	3(3056375-3059148) 5(922166-924683)
rice (Oryza sativa)	Liliopsida	-- -- (see all 5)	monodehydroascorbate reductase, putative, expresse... monodehydroascorbate reductase, putative, expresse... (see all 5)	21(a) 20(a) (see all 5)	many → 1 many → 1 (see all 5)	9(22644422-22648010) 8(27897097-27900409)
E. coli (Escherichia coli)	Gamma proteobacteria	nirB⁶ norW⁶	NADH:flavorubredoxin oxidoreductase	8(a) 19(a)	possible ortholog possible ortholog	Chromosome(3492033-3494576) Chromosome(2831934-2833067)

ENSEMBL Gene Tree for AIFM1 (if available)
TreeFam Gene Tree for AIFM1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for AIFM1 gene

AIFM3²

1 SIMAP similar gene for AIFM1 using alignment to 5 protein entries: AIFM1_HUMAN (see all proteins):

PDCD8

AIFM1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for AIFM1
PGOHUM00000238680

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs186380959^1,2		--	129263037(+)	`GCTAGC/TAGGGA`	5	--	ds500¹		0	--	--	--	--
rs189124275^1,2		--	129263155(+)	`AGGTGA/TGTGCA`	5	--	ds500¹		0	--	--	--	--
rs11796711^1,2	C,F,H	--	129263159(+)	`GTGTGC/TAAAGA`	5	--	ds500¹		3		NA	6
rs181670561^1,2		--	129263168(+)	`GAGGTC/TTGGAG`	5	--	ds500¹		0	--	--	--	--
rs186371206^1,2		--	129263188(+)	`AAGTTC/TGGAAA`	5	--	ds500¹		0	--	--	--	--
rs112709283^1,2		--	129263189(+)	`AGTTCA/GGAAAT`	5	--	ds500¹		3		CSA	3
rs147302480^1,2		--	129263193(+)	`CGGAAA/GTGAAA`	5	--	ds500¹		0	--	--	--	--
rs182967309^1,2		--	129263256(+)	`GCTTGC/GTCGGT`	5	--	ds500¹		0	--	--	--	--
rs186281339^1,2		--	129263259(+)	`TGGTCC/GGTGCT`	5	--	ds500¹		0	--	--	--	--
rs189635584^1,2		--	129263372(+)	`CTATGC/TGAACA`	5	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AIFM1 (129263337 - 129299861 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AIFM1: --
Human Gene Mutation Database (HGMD): AIFM1

Locus Specific Mutation Databases (LSDB): AIFM1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AIFM1 for disorders           About GeneDecksing

OMIM gene information: 300169
OMIM disorders: 300816
UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831

Defects in AIFM1 are the cause of combined oxidative phosphorylation deficiency type 6 (COXPD6) [MIM:300816].

It is a mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia,

areflexia, muscle weakness and wasting

20/70 diseases for AIFM1 (see all 70): About MalaCards

combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 6 mitochondrial encephalomyopathy encephalomyopathy

diffuse large b-cell lymphoma leber hereditary optic neuropathy non-small cell lung carcinoma b-cell lymphomas

cerebral artery occlusion cerebrovascular accident monocytic leukemia retinal degeneration

hearing loss rhabdoid tumors chronic lymphocytic leukemia acute myeloid leukemia

lymphocytic leukemia burkitt's lymphoma myeloid leukemia rabies

1 disease from the University of Copenhagen DISEASES database for AIFM1:

Cancer

10/42 Novoseek disease relationships for AIFM1 gene (see all 42) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	47.4	28	17207087 (6), 15486061 (2), 19578750 (2), 18085520 (2) (see all 13)
glioblastoma	42.3	1	16158421 (1)
colon cancer	40.2	5	17711848 (1), 19105980 (1), 16001080 (1), 15946692 (1)
cell damage	39.5	3	12930708 (1), 14684364 (1), 12535654 (1)
tumors	36.8	21	19105980 (2), 16001080 (2), 19823038 (1), 20371444 (1) (see all 7)
necrosis	35.1	11	20360685 (3), 17470554 (2), 16424911 (1), 16219674 (1) (see all 6)
leukemia	34.6	4	17207087 (1), 16109713 (1), 19887369 (1)
shock	30.5	9	19118093 (1), 19766117 (1), 19685011 (1), 10744629 (1) (see all 8)
glioma	29.3	9	15662973 (3), 12734434 (2), 18525314 (2), 16622074 (1) (see all 5)
neurodegeneration	25.2	2	17150307 (1), 16621561 (1)

Human Genome Epidemiology (HuGE) Navigator: AIFM1 (4 documents)

Export disorders for AIFM1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AIFM1 gene, integrated from 9 sources (see all 481):
(articles sorted by number of sources associating them with AIFM1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular characterization of mitochondrial apoptosis-inducing factor. (PubMed id 9989411)^{1, 2, 3, 9} Susin S.A.... Kroemer G. (1999)
Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity. (PubMed id 16644725)^{1, 2, 9} Delettre C....Susin S.A. (2006)
AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer. (PubMed id 16365034)^{1, 2, 9} Delettre C.... Susin S.A. (2006)
Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP. (PubMed id 17967870)^{1, 2, 9} Wilkinson J.C.... Duckett C.S. (2008)
DNA binding is required for the apoptogenic action of apoptosis inducing factor. (PubMed id 12198487)^{1, 2, 9} Ye H.... Wu H. (2002)
Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis. (PubMed id 10913597)^{1, 2, 9} Daugas E....Kroemer G. (2000)
Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space. (PubMed id 15775970)^{1, 2, 9} Otera H....Mihara K. (2005)
Severe X-linked mitochondrial encephalomyopathy assoc iated with a mutation in apoptosis-inducing factor. (PubMed id 20362274)^{1, 2, 9} Ghezzi D....Zeviani M. (2010)
Nondegradative ubiquitination of apoptosis inducing f actor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-me diated chromatin degradation. (PubMed id 22103349)^{1, 2} Lewis E.M....Wilkinson J.C. (2011)
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. (PubMed id 22019070)^{1, 2} Berger I.... Elpeleg O. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9131	HGNC: 8768	AceView: PDCD8	Ensembl:ENSG00000156709	euGenes: HUgn9131
ECgene: AIFM1	Kegg: 9131	H-InvDB: AIFM1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for AIFM1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for AIFM1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for AIFM1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AIFM1 gene:
Search GeneIP for patents involving AIFM1

GeneCards and IP:
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AIFM1 Gene

apoptosis-inducing factor, mitochondrion-associated, 1

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AIFM1 Gene

apoptosis-inducing factor, mitochondrion-associated, 1

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