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Aliases for AIFM1 Gene

Aliases for AIFM1 Gene

  • Apoptosis-Inducing Factor, Mitochondrion-Associated, 1 2 3
  • PDCD8 3 4 6
  • AIF 3 4 6
  • Neuropathy, Axonal, Motor-Sensory With Deafness And Mental Retardation (Cowchock Syndrome) 2 3
  • Programmed Cell Death 8 (Apoptosis-Inducing Factor) 2 3
  • COXPD6 3 6
  • CMTX4 3 6
  • COWCK 3 6
  • Neuropathy, Axonal Motor-Sensory, With Deafness And Mental Retardation 3
  • Apoptosis-Inducing Factor 1, Mitochondrial 3
  • Striatal Apoptosis-Inducing Factor 3
  • Programmed Cell Death Protein 8 4
  • EC 1.1.1.- 4
  • CMT2D 3
  • NADMR 3
  • NAMSD 3

External Ids for AIFM1 Gene

Previous Symbols for AIFM1 Gene

  • PDCD8
  • NAMSD

Summaries for AIFM1 Gene

Entrez Gene Summary for AIFM1 Gene

  • 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]

GeneCards Summary for AIFM1 Gene

AIFM1 (Apoptosis-Inducing Factor, Mitochondrion-Associated, 1) is a Protein Coding gene. Diseases associated with AIFM1 include combined oxidative phosphorylation deficiency 6 and cowchock syndrome. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include electron carrier activity and oxidoreductase activity, acting on NAD(P)H. An important paralog of this gene is AIFM3.

UniProtKB/Swiss-Prot for AIFM1 Gene

  • Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIFM1 Gene

Genomics for AIFM1 Gene

Genomic Location for AIFM1 Gene

Start:
130,129,362 bp from pter
End:
130,165,887 bp from pter
Size:
36,526 bases
Orientation:
Minus strand

Genomic View for AIFM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AIFM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIFM1 Gene

Regulatory Elements for AIFM1 Gene

Transcription factor binding sites by QIAGEN in the AIFM1 gene promoter:

Proteins for AIFM1 Gene

  • Protein details for AIFM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95831-AIFM1_HUMAN
    Recommended name:
    Apoptosis-inducing factor 1, mitochondrial
    Protein Accession:
    O95831
    Secondary Accessions:
    • A4QPB4
    • B1ALN1
    • B2RB08
    • D3DTE9
    • Q1L6K4
    • Q1L6K6
    • Q2QKE4
    • Q5JUZ7
    • Q6I9X6
    • Q9Y3I3
    • Q9Y3I4

    Protein attributes for AIFM1 Gene

    Size:
    613 amino acids
    Molecular mass:
    66901 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer (oxidized form). Homodimer (reduced form). Also dimerizes with isoform 3 preventing its release from mitochondria. Interacts with XIAP/BIRC4. Interacts (via N-terminus) with EIF3G (via C-terminus). Interacts with PRELID1.

    Three dimensional structures from OCA and Proteopedia for AIFM1 Gene

    Alternative splice isoforms for AIFM1 Gene

neXtProt entry for AIFM1 Gene

Proteomics data for AIFM1 Gene at MOPED

Post-translational modifications for AIFM1 Gene

  • 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 death.
  • 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 manner.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys109, Lys189, and Lys255

No data available for DME Specific Peptides for AIFM1 Gene

Domains for AIFM1 Gene

UniProtKB/Swiss-Prot:

AIFM1_HUMAN
Family:
  • Belongs to the FAD-dependent oxidoreductase family.:
    • O95831
genes like me logo Genes that share domains with AIFM1: view

No data available for Gene Families for AIFM1 Gene

Function for AIFM1 Gene

Molecular function for AIFM1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.53 mM for NADH {ECO:0000269 PubMed:23217327}; KM=26 uM for cytochrome c {ECO:0000269 PubMed:23217327};
UniProtKB/Swiss-Prot Function: Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH 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 Numbers (IUBMB) for AIFM1 Gene

Gene Ontology (GO) - Molecular Function for AIFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16713569
GO:0009055 electron carrier activity TAS 9989411
GO:0016174 NAD(P)H oxidase activity TAS 18309324
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with AIFM1: view
genes like me logo Genes that share phenotypes with AIFM1: view

Animal Models for AIFM1 Gene

MGI Knock Outs for AIFM1:

miRNA for AIFM1 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for AIFM1 Gene

Localization for AIFM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIFM1 Gene

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.
Isoform 3: Mitochondrion intermembrane space. Mitochondrion inner membrane. Note=Has a stronger membrane anchorage than isoform 1.
Isoform 5: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AIFM1 Gene COMPARTMENTS Subcellular localization image for AIFM1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
endoplasmic reticulum 2
plasma membrane 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AIFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA 20833797
GO:0005743 mitochondrial inner membrane TAS 18309324
GO:0005758 mitochondrial intermembrane space IMP 20111043
genes like me logo Genes that share ontologies with AIFM1: view

Pathways for AIFM1 Gene

genes like me logo Genes that share pathways with AIFM1: view

Pathways by source for AIFM1 Gene

1 R&D Systems pathway for AIFM1 Gene
1 GeneGo (Thomson Reuters Life Sciences Research) pathway for AIFM1 Gene
1 Cell Signaling Technology pathway for AIFM1 Gene
2 BioSystems pathways for AIFM1 Gene
1 KEGG pathway for AIFM1 Gene

Gene Ontology (GO) - Biological Process for AIFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006308 DNA catabolic process TAS 18309324
GO:0006309 apoptotic DNA fragmentation TAS 9989411
GO:0006915 apoptotic process IMP 23217327
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 17094969
GO:0010942 positive regulation of cell death --
genes like me logo Genes that share ontologies with AIFM1: view

Compounds for AIFM1 Gene

(1) HMDB Compounds for AIFM1 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5

(1) Drugbank Compounds for AIFM1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Flavin-Adenine Dinucleotide
146-14-5 target

(59) Novoseek inferred chemical compound relationships for AIFM1 Gene

Compound -log(P) Hits PubMed IDs
z-vad-fmk 78 1
adpribose 73.5 13
ptpc 73 2
phosphatidylserine 65.8 7
n acetylcysteine 58.6 7
genes like me logo Genes that share compounds with AIFM1: view

Transcripts for AIFM1 Gene

Unigene Clusters for AIFM1 Gene

Apoptosis-inducing factor, mitochondrion-associated, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AIFM1 Gene

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:

Relevant External Links for AIFM1 Gene

GeneLoc Exon Structure for
AIFM1
ECgene alternative splicing isoforms for
AIFM1

Expression for AIFM1 Gene

mRNA expression in normal human tissues for AIFM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIFM1 Gene

This gene is overexpressed in Heart - Left Ventricle (4.6) and Kidney - Cortex (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AIFM1 Gene

SOURCE GeneReport for Unigene cluster for AIFM1 Gene Hs.424932

mRNA Expression by UniProt/SwissProt for AIFM1 Gene

O95831-AIFM1_HUMAN
Tissue specificity: Detected in muscle and skin fibroblasts (at protein level). Isoform 5 is frequently down-regulated in human cancers.
genes like me logo Genes that share expressions with AIFM1: view

Orthologs for AIFM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AIFM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIFM1 36
  • 93.83 (n)
  • 92.62 (a)
AIFM1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AIFM1 36
  • 92.55 (n)
  • 94.13 (a)
AIFM1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AIFM1 36
  • 93.26 (n)
  • 94.29 (a)
AIFM1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aifm1 36
  • 90.69 (n)
  • 92.32 (a)
Aifm1 16
Aifm1 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIFM1 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIFM1 37
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aifm1 36
  • 90.63 (n)
  • 92.65 (a)
chicken
(Gallus gallus)
Aves AIFM1 36
  • 71.99 (n)
  • 78.61 (a)
AIFM1 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIFM1 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aifm1 36
  • 65.71 (n)
  • 73.25 (a)
Str.9724 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9123 36
zebrafish
(Danio rerio)
Actinopterygii aifm1 36
  • 67.17 (n)
  • 73.24 (a)
aifm1 37
  • 57 (a)
OneToOne
pdcd8 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008044 36
  • 56.78 (n)
  • 54.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta AIF 36
  • 54.55 (n)
  • 51.28 (a)
AIF 37
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea wah-1 36
  • 48.99 (n)
  • 40.91 (a)
wah-1 37
  • 29 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5219 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9420 37
  • 51 (a)
OneToOne
Species with no ortholog for AIFM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AIFM1 Gene

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

Paralogs for AIFM1 Gene

Paralogs for AIFM1 Gene

Pseudogenes.org Pseudogenes for AIFM1 Gene

genes like me logo Genes that share paralogs with AIFM1: view

Variants for AIFM1 Gene

Sequence variations from dbSNP and Humsavar for AIFM1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs23962 -- 130,162,440(-) GCCTG(C/G)TCATG intron-variant
rs23963 -- 130,162,420(-) TAGAG(A/G)ACCAG intron-variant
rs176708 -- 130,143,913(+) GAATA(G/T)CTGGG intron-variant
rs188336 -- 130,143,118(+) ggggt(G/T)cccca intron-variant
rs188337 -- 130,148,608(+) gcagg(C/T)ggatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AIFM1 Gene

Variant ID Type Subtype PubMed ID
nsv528290 CNV Gain 19592680

Relevant External Links for AIFM1 Gene

HapMap Linkage Disequilibrium report
AIFM1
Human Gene Mutation Database (HGMD)
AIFM1
Locus Specific Mutation Databases (LSDB)
AIFM1

Disorders for AIFM1 Gene

(2) OMIM Diseases for AIFM1 Gene (300169)

UniProtKB/Swiss-Prot

AIFM1_HUMAN
  • Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]: A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy. {ECO:0000269 PubMed:20362274, ECO:0000269 PubMed:22019070}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cowchock syndrome (COWCK) [MIM:310490]: An X-linked recessive neuromuscular disorder characterized by early childhood onset of a slowly progressive axonal sensorimotor neuropathy associated in some patients with sensorineural deafness and cognitive impairment. {ECO:0000269 PubMed:23217327}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for AIFM1 Gene

(42) Novoseek inferred disease relationships for AIFM1 Gene

Disease -log(P) Hits PubMed IDs
cancer 47.4 22
glioblastoma 42.3 1
colon cancer 40.2 4
cell damage 39.5 3
tumors 36.8 9

Relevant External Links for AIFM1

Genetic Association Database (GAD)
AIFM1
Human Genome Epidemiology (HuGE) Navigator
AIFM1
genes like me logo Genes that share disorders with AIFM1: view

Publications for AIFM1 Gene

  1. Molecular characterization of mitochondrial apoptosis-inducing factor. (PMID: 9989411) Susin S.A. … Kroemer G. (Nature 1999) 2 3 4 23
  2. Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis. (PMID: 10913597) Daugas E. … Kroemer G. (FEBS Lett. 2000) 3 4 23
  3. DNA binding is required for the apoptogenic action of apoptosis inducing factor. (PMID: 12198487) Ye H. … Wu H. (Nat. Struct. Biol. 2002) 3 4 23
  4. Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space. (PMID: 15775970) Otera H. … Mihara K. (EMBO J. 2005) 3 4 23
  5. AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer. (PMID: 16365034) Delettre C. … Susin S.A. (J. Biol. Chem. 2006) 3 4 23

Products for AIFM1 Gene

  • Addgene plasmids for AIFM1

Sources for AIFM1 Gene

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