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 apoptoge... See more...

Aliases for AIFM1 Gene

Aliases for AIFM1 Gene

  • Apoptosis Inducing Factor Mitochondria Associated 1 2 3 5
  • Apoptosis-Inducing Factor, Mitochondrion-Associated, 1 2 3
  • Programmed Cell Death 8 (Apoptosis-Inducing Factor) 2 3
  • Apoptosis-Inducing Factor 1, Mitochondrial 3 4
  • Auditory Neuropathy, X-Linked Recessive 1 2 3
  • PDCD8 3 4
  • AIF 3 4
  • Neuropathy, Axonal, Motor-Sensory With Deafness And Mental Retardation (Cowchock Syndrome) 2
  • Apoptosis Inducing Factor, Mitochondria Associated 1 2
  • Striatal Apoptosis-Inducing Factor 3
  • Testicular Secretory Protein Li 4 3
  • Programmed Cell Death Protein 8 4
  • EC 1.1.1.- 4
  • COXPD6 3
  • CMT2D 3
  • CMTX4 3
  • COWCK 3
  • DFNX5 3
  • NADMR 3
  • AUNX1 3
  • NAMSD 3

External Ids for AIFM1 Gene

Previous HGNC Symbols for AIFM1 Gene

  • PDCD8
  • NAMSD
  • AUNX1

Previous GeneCards Identifiers for AIFM1 Gene

  • GC0XM129092
  • GC0XM129263
  • GC0XM118659

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 (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 cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

GeneCards Summary for AIFM1 Gene

AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1) is a Protein Coding gene. Diseases associated with AIFM1 include Cowchock Syndrome and Combined Oxidative Phosphorylation Deficiency 6. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Ceramide signaling pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and electron transfer activity. An important paralog of this gene is AIFM3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AIFM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AIFM1 Gene

Genomics for AIFM1 Gene

GeneHancer (GH) Regulatory Elements for AIFM1 Gene

Promoters and enhancers for AIFM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ130164 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.3 286 3.6 SIN3A ZBTB40 SP1 ZBTB6 SMARCE1 POLR2A TCF7L2 CTBP1 CREB1 HCFC1 AIFM1 ENSG00000286650 RAB33A BCORL1 OCRL ZNF280C SLC25A14 UTP14A RBMX2 ELF4
GH0XJ130117 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 13 +46.0 46019 4.6 SMARCE1 POLR2A CTBP1 HLF L3MBTL2 RAD21 NKRF GTF2F1 ZFX MAFK ELF4 ZNF280C BCORL1 AIFM1 RAB33A RBMX2 UTP14A XPNPEP2 SASH3 RF00017-8708
GH0XJ130108 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6 +55.8 55819 4.9 POLR2A L3MBTL2 DACH1 HDGF MNT ZNF148 NKRF GTF2F1 ZFX SP7 ELF4 RAB33A SLC25A14 AIFM1 RF00017-8707 RF00017-8708 RF00017-8703
GH0XJ130124 Enhancer 0.7 Ensembl ENCODE dbSUPER 12.7 +40.5 40498 2 TEAD4 IKZF1 CREM AIFM1 RAB33A ELF4 RF00017-8708 RF00017-8703
GH0XJ130144 Enhancer 0.5 Ensembl 13.2 +21.0 21029 0.7 MAFK REST RAD21 CTCF EMSY AIFM1 RAB33A ELF4 RF00017-8708 RF00017-8703
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AIFM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AIFM1 gene promoter:
  • ATF-2
  • c-Jun

Genomic Locations for AIFM1 Gene

Genomic Locations for AIFM1 Gene
chrX:130,129,362-130,165,887
(GRCh38/hg38)
Size:
36,526 bases
Orientation:
Minus strand
chrX:129,263,337-129,299,861
(GRCh37/hg19)
Size:
36,525 bases
Orientation:
Minus strand

Genomic View for AIFM1 Gene

Genes around AIFM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIFM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIFM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIFM1 Gene

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

Post-translational modifications for AIFM1 Gene

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

Antibody Products

  • Abcam antibodies for AIFM1

No data available for DME Specific Peptides for AIFM1 Gene

Domains & Families for AIFM1 Gene

Gene Families for AIFM1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for AIFM1 Gene

GenScript: Design optimal peptide antigens:
  • Programmed cell death protein 8 (AIFM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95831

UniProtKB/Swiss-Prot:

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

Function for AIFM1 Gene

Molecular function for AIFM1 Gene

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.
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};

Enzyme Numbers (IUBMB) for AIFM1 Gene

Phenotypes From GWAS Catalog 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:0016174 NAD(P)H oxidase activity TAS 18309324
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IDA 23217327
genes like me logo Genes that share ontologies with AIFM1: view
genes like me logo Genes that share phenotypes with AIFM1: view

Human Phenotype Ontology for AIFM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AIFM1 Gene

MGI Knock Outs for AIFM1:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for AIFM1

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIFM1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
peroxisome 1
endoplasmic reticulum 1
extracellular 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for AIFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion TAS,HDA 20833797
GO:0005743 mitochondrial inner membrane TAS 18309324
GO:0005758 mitochondrial intermembrane space IDA,IEA 15775970
genes like me logo Genes that share ontologies with AIFM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AIFM1 Gene

Pathways & Interactions for AIFM1 Gene

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

Pathways by source for AIFM1 Gene

2 KEGG pathways for AIFM1 Gene
1 GeneGo (Thomson Reuters) pathway for AIFM1 Gene
1 R&D Systems pathway for AIFM1 Gene
3 Qiagen pathways for AIFM1 Gene
  • AIF Pathway
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
1 Cell Signaling Technology pathway for AIFM1 Gene
1 GeneTex pathway for AIFM1 Gene

SIGNOR curated interactions for AIFM1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for AIFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0006915 apoptotic process IMP 23217327
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 17094969
GO:0009636 response to toxic substance IEA --
GO:0010942 positive regulation of cell death IEA --
genes like me logo Genes that share ontologies with AIFM1: view

Drugs & Compounds for AIFM1 Gene

(39) Drugs for AIFM1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
MCC Investigational Pharma Target 0

(22) Additional Compounds for AIFM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AIFM1: view

Transcripts for AIFM1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for AIFM1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.6) and Kidney - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for AIFM1 Gene

This gene is overexpressed in Liver, secretome (10.7), Heart (8.8), and Kidney (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AIFM1 Gene



Protein tissue co-expression partners for AIFM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AIFM1 Gene:

AIFM1

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.

Evidence on tissue expression from TISSUES for AIFM1 Gene

  • Nervous system(4.8)
  • Kidney(4.7)
  • Liver(4.5)
  • Skin(3)
  • Intestine(2.3)
  • Heart(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AIFM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • ear
  • head
  • meninges
  • middle ear
  • neck
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 33 32
  • 93.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AIFM1 33 32
  • 93.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AIFM1 33 32
  • 92.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aifm1 17 33 32
  • 90.69 (n)
rat
(Rattus norvegicus)
Mammalia Aifm1 32
  • 90.63 (n)
oppossum
(Monodelphis domestica)
Mammalia AIFM1 33
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIFM1 33
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIFM1 33 32
  • 71.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIFM1 33
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aifm1 32
  • 65.71 (n)
Str.9724 32
zebrafish
(Danio rerio)
Actinopterygii aifm1 33 32
  • 67.17 (n)
OneToOne
pdcd8 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9123 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008044 32
  • 56.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta AIF 33 32
  • 54.55 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea wah-1 33 32
  • 48.99 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9420 33
  • 51 (a)
OneToOne
Cin.5219 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5219 32
Species where no ortholog for AIFM1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AIFM1: view image

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 Variation AA Info Type
rs1056740593 uncertain-significance, Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency 130,136,693(-) C/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057515766 uncertain-significance, Combined oxidative phosphorylation deficiency 130,129,508(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1057515767 uncertain-significance, Combined oxidative phosphorylation deficiency 130,130,093(-) T/C 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1057516211 pathogenic, Combined oxidative phosphorylation deficiency 6 130,133,325(-) T/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057518895 likely-pathogenic, Distal muscle weakness, Foot dorsiflexor weakness, Pes planus, Sensorineural hearing loss 130,137,134(-) A/G 3_prime_UTR_variant, coding_sequence_variant, initiator_codon_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv528290 CNV gain 19592680

Variation tolerance for AIFM1 Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIFM1 Gene

Human Gene Mutation Database (HGMD)
AIFM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIFM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIFM1 Gene

Disorders for AIFM1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for AIFM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AIFM1 in MalaCards View complete list of genes associated with diseases

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.
  • Deafness, X-linked, 5 (DFNX5) [MIM:300614]: A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system. {ECO:0000269 PubMed:25986071}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AIFM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AIFM1: view

No data available for Genatlas for AIFM1 Gene

Publications for AIFM1 Gene

  1. Molecular characterization of mitochondrial apoptosis-inducing factor. (PMID: 9989411) Susin SA … Kroemer G (Nature 1999) 2 3 4 23 56
  2. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. (PMID: 25986071) Zong L … Wang Q (Journal of medical genetics 2015) 2 3 4 56
  3. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. (PMID: 23217327) Rinaldi C … Fischbeck KH (American journal of human genetics 2012) 2 3 4 56
  4. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (PMID: 20362274) Ghezzi D … Zeviani M (American journal of human genetics 2010) 3 4 23 56
  5. Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP. (PMID: 17967870) Wilkinson JC … Duckett CS (Molecular and cellular biology 2008) 3 4 23 56

Products for AIFM1 Gene

Sources for AIFM1 Gene