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AIFM1 Gene

protein-coding   GIFtS: 66
GCID: GC0XM129263

Apoptosis-Inducing Factor, Mitochondrion-Associated, 1

(Previous names: programmed cell death 8 (apoptosis-inducing factor), neuropathy,...)
(Previous symbols: PDCD8, NAMSD)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Apoptosis-Inducing Factor, Mitochondrion-Associated, 11 2     COXPD62 5
PDCD81 2 3 5     CMT2D2
AIF2 3 5     NADMR2
NAMSD1 2     Apoptosis-Inducing Factor 1, Mitochondrial2
Neuropathy, Axonal, Motor-Sensory With Deafness And Mental Retardation
(Cowchock Syndrome)1 2
     Neuropathy, Axonal Motor-Sensory, With Deafness And Mental Retardation2
Programmed Cell Death 8 (Apoptosis-Inducing Factor)1 2     Striatal Apoptosis-Inducing Factor2
CMTX42 5     EC 1.1.1.-3
COWCK2 5     Programmed Cell Death Protein 83

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cowchock syndrome, and combined oxidative phosphorylation deficiency 6. GO annotations related to this gene include oxidoreductase activity, acting on NAD(P)H and electron carrier activity. An important paralog of this gene is AIFM3.

UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831
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

Gene Wiki entry for AIFM1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AIFM1 gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAIFM1 promoter sequence
   Search Chromatin IP Primers for AIFM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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: 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
3 PDB 3D structures from and Proteopedia for AIFM1:
1M6I (3D)        4FDC (3D)        4LII (3D)    
Secondary accessions: A4QPB4 B1ALN1 B2RB08 D3DTE9 Q1L6K4 Q1L6K6 Q2QKE4 Q5JUZ7 Q6I9X6 Q9Y3I3
Q9Y3I4
Alternative splicing: 6 isoforms:  O95831-1   O95831-2   O95831-3   O95831-4   O95831-5   O95831-6   (Pro-apoptotic isoform, strongly down-regulated in many tumor cells, up-regulated by gamma-irradiation)

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

Explore proteomics data for AIFM1 at MOPED

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
  • Ubiquitination2 at Lys109, Lys189, Lys255
  • Modification sites at PhosphoSitePlus

  • See AIFM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    AIFM1 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     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 domains:
    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


    AIFM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AIFM1_HUMAN, O95831
    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
    Biophysicochemical properties: Kinetic parameters: KM=1.53 mM for NADH; KM=26 uM for cytochrome c;

         Enzyme Number (IUBMB): EC 1.1.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI16713569
    GO:0009055electron carrier activity TAS9989411
    GO:0016174NAD(P)H oxidase activity TAS18309324
    GO:0016491oxidoreductase activity ----
         
    AIFM1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aifm1):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     homeostasis/metabolism  integument  mortality/aging  muscle  nervous system 
     vision/eye 

    AIFM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aifm1tm2.1Pngr for AIFM1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AIFM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AIFM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AIFM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AIFM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AIFM1:
    hsa-mir-155-5p (MIRT020612), hsa-mir-26b-5p (MIRT028978), hsa-mir-484 (MIRT042266), hsa-mir-877-3p (MIRT036812), hsa-mir-30c-5p (MIRT047896)

    Block miRNA regulation of human, mouse, rat AIFM1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate AIFM1
    SwitchGear 3'UTR luciferase reporter plasmidAIFM1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AIFM1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 5): AIFM1 (NM_004208)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIFM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AIFM1_HUMAN, O95831: 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
    AIFM1_HUMAN, O95831: Isoform 3: Mitochondrion intermembrane space. Mitochondrion inner membrane. Note=Has a
    stronger membrane anchorage than isoform 1
    AIFM1_HUMAN, O95831: Isoform 5: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol4
    endoplasmic reticulum2
    plasma membrane2
    cytoskeleton1
    extracellular1
    golgi apparatus1
    peroxisome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS18309324
    GO:0005758mitochondrial intermembrane space IMP--

    AIFM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AIFM1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis (KEGG)
    Apoptosis0.37
    2Apoptosis Signaling Pathways
    Apoptosis Signaling Pathways0.35
    3TWEAK Pathway
    Apoptosis Modulation by HSP700.35
    4Ceramide signaling pathway
    Ceramide signaling pathway
    5Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for AIFM1
        Apoptosis Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AIFM1
        Mitochondrial Apoptosis
    Cellular Apoptosis Pathway
    AIF Pathway

    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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for AIFM1

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

    Selected Interacting proteins for AIFM1 (O958311, 2, 3 ENSP000002872954) via UniProtKB, MINT, STRING, and/or I2D (see all 392)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081072, 3MINT-13840 MINT-8079030 MINT-13841 I2D: score=7 
    ENSG00000215328P081072, 3MINT-13840 MINT-8079030 MINT-13841 I2D: score=7 
    ENSG00000224501P081072, 3MINT-13840 MINT-8079030 MINT-13841 I2D: score=7 
    ENSG00000231555P081072, 3MINT-13840 MINT-8079030 MINT-13841 I2D: score=7 
    ENSG00000234475P081072, 3MINT-13840 MINT-8079030 MINT-13841 I2D: score=7 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006308DNA catabolic process TAS18309324
    GO:0006309apoptotic DNA fragmentation IEA--
    GO:0006915apoptotic process IMP--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA17094969
    GO:0030182neuron differentiation IDA--

    AIFM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AIFM1

    1 HMDB Compound for AIFM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--

    1 DrugBank Compound for AIFM1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235

    Selected Novoseek inferred 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)



    AIFM1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 345):

    AA481316 BX095724 BM835413 BQ581468 AI521711 AF100928 AI978692 BQ065495 
    CF141027 AA907827 AI950034 AA086474 BQ581783 BU161911 AW401864 AF131759 
    BQ061576 CR607158 CA444039 CD365835 AI635661 AI701951 CA427387 AA496621 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AIFM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGACTGAAG
    AIFM1 Expression
    About this image


    AIFM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
    AIFM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AIFM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.424932

    UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831
    Tissue specificity: Detected in muscle and skin fibroblasts (at protein level). Isoform 5 is frequently
    down-regulated in human cancers

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AIFM1: 
              Apoptosis 384HT in human mouse rat
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cardiotoxicity in human mouse rat

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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 common ancestor of animals.

    Orthologs for AIFM1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aifm11 , 5 apoptosis-inducing factor, mitochondrion-associated more1, 5 90.69(n)1
    92.32(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 71.99(n)
    78.61(a)
      428688  NM_001007490.1  NP_001007491.1 
    lizard
    (Anolis carolinensis)
    Reptilia AIFM16
    apoptosis-inducing factor, mitochondrion-associate...
    77(a)
    1 ↔ 1
    GL343451.1(347489-361647)
    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 54.55(n)
    51.28(a)
      33390  NM_001272978.1  NP_001259907.1 
    worm
    (Caenorhabditis elegans)
    Secernentea wah-11 wah-1 48.99(n)
    40.91(a)
      176635  NM_067163.4  NP_499564.2 


    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  

    AIFM1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AIFM1
    PGOHUM00000238680


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AIFM1 (see all 605)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0694684
    Cowchock syndrome (COWCK)4--see VAR_0694682 E V mis40--------
    VAR_0673344
    Combined oxidative phosphorylation deficiency 6 (COXPD6)4--see VAR_0673342 G E mis40--------
    rs1863809591,2
    --129218782(+) GCTAGC/TAGGGA 5 -- ds50010--------
    rs1891242751,2
    --129218900(+) AGGTGA/TGTGCA 5 -- ds50010--------
    rs117967111,2
    C,F,H--129218904(+) GTGTGC/TAAAGA 5 -- ds50013Minor allele frequency- T:0.33NA 6
    rs1816705611,2
    --129218913(+) GAGGTC/TTGGAG 5 -- ds50010--------
    rs1863712061,2
    --129218933(+) AAGTTC/TGGAAA 5 -- ds50010--------
    rs1127092831,2
    F--129218934(+) AGTTCA/GGAAAT 5 -- ds50013Minor allele frequency- G:0.00CSA 3
    rs1473024801,2
    C--129218938(+) CGGAAA/GTGAAA 5 -- ds50010--------
    rs1829673091,2
    --129219001(+) GCTTGC/GTCGGT 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for AIFM1 (129263337 - 129299861 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AIFM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528290CNV Gain19592680

    Human Gene Mutation Database (HGMD): AIFM1
    Locus Specific Mutation Databases (LSDB): AIFM1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AIFM1
    DNA2.0 Custom Variant and Variant Library Synthesis for AIFM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300169   
    OMIM disorders: 300816  310490  
    UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for AIFM1 (see all 64):    
    About MalaCards
    cowchock syndrome    combined oxidative phosphorylation deficiency 6    mitochondrial encephalomyopathy    encephalomyopathy
    rabies    charcot-marie-tooth hereditary neuropathy    cerebral artery occlusion    hereditary neuropathies
    leber hereditary optic neuropathy    rhabdoid tumor    monocytic leukemia    lynch syndrome
    retinal degeneration    cervical cancer    glioblastoma multiforme    ischemia
    osteosarcoma    myeloma    b-cell chronic lymphocytic leukemia    diffuse large b-cell lymphoma

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

    AIFM1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): AIFM1
    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)
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    PubMed articles for AIFM1 gene, integrated from 10 sources (see all 502):
    (articles sorted by number of sources associating them with AIFM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of mitochondrial apoptosis-inducing factor. (PubMed id 9989411)1, 2, 3, 9 Susin S.A.... Kroemer G. (Nature 1999)
    2. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. (PubMed id 23217327)1, 2, 3 Rinaldi C....Fischbeck K.H. (Am. J. Hum. Genet. 2012)
    3. 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. (J. Biol. Chem. 2006)
    4. 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. (J. Biol. Chem. 2006)
    5. Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP. (PubMed id 17967870)1, 2, 9 Wilkinson J.C.... Duckett C.S. (Mol. Cell. Biol. 2008)
    6. DNA binding is required for the apoptogenic action of apoptosis inducing factor. (PubMed id 12198487)1, 2, 9 Ye H.... Wu H. (Nat. Struct. Biol. 2002)
    7. Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis. (PubMed id 10913597)1, 2, 9 Daugas E....Kroemer G. (FEBS Lett. 2000)
    8. 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. (EMBO J. 2005)
    9. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (PubMed id 20362274)1, 2, 9 Ghezzi D.... Zeviani M. (Am. J. Hum. Genet. 2010)
    10. Nondegradative ubiquitination of apoptosis inducing factor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-mediated chromatin degradation. (PubMed id 22103349)1, 2 Lewis E.M.... Wilkinson J.C. (Biochemistry 2011)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AIFM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AIFM1 Genetics and Cytogenetics in Oncology and Haematology

    (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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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