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Protein

Apoptosis-inducing factor 1, mitochondrial

Gene

AIFM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.4 Publications

Cofactori

FAD1 Publication

Kineticsi

  1. KM=1.53 mM for NADH1 Publication
  2. KM=26 µM for cytochrome c1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei172FAD2 Publications1
    Binding sitei177FAD2 Publications1
    Binding sitei233FAD; via amide nitrogen and carbonyl oxygen2 Publications1
    Binding sitei285FAD2 Publications1
    Binding sitei438FAD2 Publications1
    Binding sitei483FAD; via carbonyl oxygen2 Publications1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi138 – 142FAD2 Publications5
    Nucleotide bindingi164 – 165FAD2 Publications2
    Nucleotide bindingi454 – 455FAD2 Publications2

    GO - Molecular functioni

    • DNA binding Source: UniProtKB-KW
    • FAD binding Source: Ensembl
    • NAD(P)H oxidase activity Source: UniProtKB
    • oxidoreductase activity, acting on NAD(P)H Source: UniProtKB
    • protein dimerization activity Source: InterPro

    GO - Biological processi

    Keywordsi

    Molecular functionDNA-binding, Oxidoreductase
    Biological processApoptosis
    LigandFAD, Flavoprotein, NAD

    Enzyme and pathway databases

    SABIO-RKiO95831
    SignaLinkiO95831
    SIGNORiO95831

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Apoptosis-inducing factor 1, mitochondrial (EC:1.1.1.-)
    Alternative name(s):
    Programmed cell death protein 8
    Gene namesi
    Name:AIFM1
    Synonyms:AIF, PDCD8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome X

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000156709.13
    HGNCiHGNC:8768 AIFM1
    MIMi300169 gene
    neXtProtiNX_O95831

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Combined oxidative phosphorylation deficiency 6 (COXPD6)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA 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.
    See also OMIM:300816
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_063827201Missing in COXPD6; higher DNA binding affinity, partially impaired flavin binding and association with increased parthanatos-linked cell death. 1 Publication1
    Natural variantiVAR_067334308G → E in COXPD6; with prenatal ventriculomegaly and severe postnatal encephalomyopathy. 1 Publication1
    Cowchock syndrome (COWCK)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn 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.
    See also OMIM:310490
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_069468493E → V in COWCK; increases affinity for NADH and electron transfer activity; increases affinity for DNA, resulting in increased apoptosis. 1 PublicationCorresponds to variant dbSNP:rs281864468EnsemblClinVar.1
    Deafness, X-linked, 5 (DFNX5)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA 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.
    See also OMIM:300614
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_076211260T → A in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs863225432EnsemblClinVar.1
    Natural variantiVAR_076212344L → F in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs184474885EnsemblClinVar.1
    Natural variantiVAR_076213360G → R in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs724160026EnsemblClinVar.1
    Natural variantiVAR_076214422R → Q in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs724160021EnsemblClinVar.1
    Natural variantiVAR_076215422R → W in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs724160020EnsemblClinVar.1
    Natural variantiVAR_076216430R → C in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076217451R → Q in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs863225431EnsemblClinVar.1
    Natural variantiVAR_076218472A → V in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076219475P → L in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs724160022EnsemblClinVar.1
    Natural variantiVAR_076220498V → M in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs724160023EnsemblClinVar.1
    Natural variantiVAR_076221591I → M in DFNX5; unknown pathological significance. 1 Publication1

    Keywords - Diseasei

    Charcot-Marie-Tooth disease, Deafness, Disease mutation, Mental retardation, Neurodegeneration, Neuropathy, Primary mitochondrial disease

    Organism-specific databases

    DisGeNETi9131
    MalaCardsiAIFM1
    MIMi300614 phenotype
    300816 phenotype
    310490 phenotype
    OpenTargetsiENSG00000156709
    Orphaneti238329 Severe X-linked mitochondrial encephalomyopathy
    168448 Spondyloepimetaphyseal dysplasia, Bieganski type
    101078 X-linked Charcot-Marie-Tooth disease type 4
    139583 X-linked hereditary sensory and autonomic neuropathy with deafness
    PharmGKBiPA162376129

    Chemistry databases

    DrugBankiDB03147 Flavin adenine dinucleotide
    DB05282 MCC

    Polymorphism and mutation databases

    BioMutaiAIFM1

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 54MitochondrionCombined sources2 PublicationsAdd BLAST54
    PropeptideiPRO_000040193555 – 101Removed in mature form1 PublicationAdd BLAST47
    ChainiPRO_0000022030102 – 613Apoptosis-inducing factor 1, mitochondrialAdd BLAST512

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei105PhosphothreonineCombined sources1
    Modified residuei109N6-succinyllysineBy similarity1
    Modified residuei116PhosphoserineCombined sources1
    Modified residuei118PhosphoserineCombined sources1
    Cross-linki255Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Modified residuei268PhosphoserineCombined sources1
    Modified residuei292PhosphoserineCombined sources1
    Modified residuei371PhosphoserineCombined sources1
    Modified residuei388N6-acetyllysineBy similarity1
    Modified residuei521PhosphothreonineCombined sources1
    Modified residuei524PhosphoserineCombined sources1
    Modified residuei530PhosphoserineCombined sources1
    Modified residuei593N6-acetyllysineBy similarity1

    Post-translational modificationi

    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.1 Publication
    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.2 Publications

    Keywords - PTMi

    Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    EPDiO95831
    MaxQBiO95831
    PaxDbiO95831
    PeptideAtlasiO95831
    PRIDEiO95831
    ProteomicsDBi51073
    51074 [O95831-2]
    51075 [O95831-3]
    51076 [O95831-4]

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00157908
    UCD-2DPAGEiO95831

    PTM databases

    CarbonylDBiO95831
    iPTMnetiO95831
    PhosphoSitePlusiO95831
    SwissPalmiO95831

    Expressioni

    Tissue specificityi

    Detected in muscle and skin fibroblasts (at protein level). Isoform 5 is frequently down-regulated in human cancers.2 Publications

    Gene expression databases

    BgeeiENSG00000156709 Expressed in 213 organ(s), highest expression level in apex of heart
    CleanExiHS_AIFM1
    ExpressionAtlasiO95831 baseline and differential
    GenevisibleiO95831 HS

    Organism-specific databases

    HPAiCAB003764
    HPA030611

    Interactioni

    Subunit structurei

    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 PRELID1.6 Publications

    Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi114579, 113 interactors
    CORUMiO95831
    DIPiDIP-32975N
    IntActiO95831, 229 interactors
    MINTiO95831
    STRINGi9606.ENSP00000287295

    Structurei

    Secondary structure

    1613
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliO95831
    SMRiO95831
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO95831

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni134 – 483FAD-dependent oxidoreductaseBy similarityAdd BLAST350

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Motifi446 – 451Nuclear localization signalSequence analysis6

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiKOG1346 Eukaryota
    COG0446 LUCA
    GeneTreeiENSGT00530000063416
    HOGENOMiHOG000124580
    HOVERGENiHBG056326
    InParanoidiO95831
    KOiK04727
    OMAiEGVNVMP
    OrthoDBiEOG091G05ST
    PhylomeDBiO95831
    TreeFamiTF314028

    Family and domain databases

    Gene3Di3.30.390.30, 1 hit
    3.50.50.60, 2 hits
    InterProiView protein in InterPro
    IPR029324 AIF_C
    IPR036188 FAD/NAD-bd_sf
    IPR023753 FAD/NAD-binding_dom
    IPR016156 FAD/NAD-linked_Rdtase_dimer_sf
    PfamiView protein in Pfam
    PF14721 AIF_C, 1 hit
    PF07992 Pyr_redox_2, 1 hit
    SUPFAMiSSF51905 SSF51905, 2 hits
    SSF55424 SSF55424, 1 hit

    Sequences (6+)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: O95831-1) [UniParc]FASTAAdd to basket
    Also known as: AIF

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MFRCGGLAAG ALKQKLVPLV RTVCVRSPRQ RNRLPGNLFQ RWHVPLELQM
    60 70 80 90 100
    TRQMASSGAS GGKIDNSVLV LIVGLSTVGA GAYAYKTMKE DEKRYNERIS
    110 120 130 140 150
    GLGLTPEQKQ KKAALSASEG EEVPQDKAPS HVPFLLIGGG TAAFAAARSI
    160 170 180 190 200
    RARDPGARVL IVSEDPELPY MRPPLSKELW FSDDPNVTKT LRFKQWNGKE
    210 220 230 240 250
    RSIYFQPPSF YVSAQDLPHI ENGGVAVLTG KKVVQLDVRD NMVKLNDGSQ
    260 270 280 290 300
    ITYEKCLIAT GGTPRSLSAI DRAGAEVKSR TTLFRKIGDF RSLEKISREV
    310 320 330 340 350
    KSITIIGGGF LGSELACALG RKARALGTEV IQLFPEKGNM GKILPEYLSN
    360 370 380 390 400
    WTMEKVRREG VKVMPNAIVQ SVGVSSGKLL IKLKDGRKVE TDHIVAAVGL
    410 420 430 440 450
    EPNVELAKTG GLEIDSDFGG FRVNAELQAR SNIWVAGDAA CFYDIKLGRR
    460 470 480 490 500
    RVEHHDHAVV SGRLAGENMT GAAKPYWHQS MFWSDLGPDV GYEAIGLVDS
    510 520 530 540 550
    SLPTVGVFAK ATAQDNPKSA TEQSGTGIRS ESETESEASE ITIPPSTPAV
    560 570 580 590 600
    PQAPVQGEDY GKGVIFYLRD KVVVGIVLWN IFNRMPIARK IIKDGEQHED
    610
    LNEVAKLFNI HED
    Length:613
    Mass (Da):66,901
    Last modified:May 1, 1999 - v1
    Checksum:iA156762BC64E6340
    GO
    Isoform 2 (identifier: O95831-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         36-322: Missing.

    Show »
    Length:326
    Mass (Da):35,638
    Checksum:iA87ACDC0A0556040
    GO
    Isoform 3 (identifier: O95831-3) [UniParc]FASTAAdd to basket
    Also known as: AIF-exB, AIF2

    The sequence of this isoform differs from the canonical sequence as follows:
         36-82: GNLFQRWHVP...VGLSTVGAGA → VVQSHHLGSP...GATVTGAGVY

    Note: Brain-specific.
    Show »
    Length:609
    Mass (Da):66,295
    Checksum:i313ADD6FA4E5D61A
    GO
    Isoform 4 (identifier: O95831-4) [UniParc]FASTAAdd to basket
    Also known as: AIFsh2

    The sequence of this isoform differs from the canonical sequence as follows:
         323-324: AR → DI
         325-613: Missing.

    Note: Does not induce nuclear apoptosis.
    Show »
    Length:324
    Mass (Da):35,384
    Checksum:i259AA55812C2F07E
    GO
    Isoform 5 (identifier: O95831-5) [UniParc]FASTAAdd to basket
    Also known as: AIFsh

    The sequence of this isoform differs from the canonical sequence as follows:
         1-352: Missing.

    Note: Pro-apoptotic isoform, strongly down-regulated in many tumor cells, up-regulated by gamma-irradiation.
    Show »
    Length:261
    Mass (Da):28,404
    Checksum:iB05C9E9F3AA3F2E3
    GO
    Isoform 6 (identifier: O95831-6) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-87: Missing.
         323-324: AR → DI
         325-613: Missing.

    Show »
    Length:237
    Mass (Da):26,033
    Checksum:iC1DDF16F42339374
    GO

    Computationally mapped potential isoform sequencesi

    There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    E9PMA0E9PMA0_HUMAN
    Apoptosis-inducing factor 1, mitoch...
    AIFM1
    274Annotation score:
    E9PMQ8E9PMQ8_HUMAN
    Apoptosis-inducing factor 1, mitoch...
    AIFM1
    89Annotation score:
    E9PRR0E9PRR0_HUMAN
    Apoptosis-inducing factor 1, mitoch...
    AIFM1
    43Annotation score:

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_063827201Missing in COXPD6; higher DNA binding affinity, partially impaired flavin binding and association with increased parthanatos-linked cell death. 1 Publication1
    Natural variantiVAR_072791243V → L Probable disease-associated mutation found in patient with severe myopathy; myopathic changes with partial type II fiber hypotrophy; reduced protein amount in muscle compared to controls. 1 Publication1
    Natural variantiVAR_076211260T → A in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs863225432EnsemblClinVar.1
    Natural variantiVAR_067334308G → E in COXPD6; with prenatal ventriculomegaly and severe postnatal encephalomyopathy. 1 Publication1
    Natural variantiVAR_076212344L → F in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs184474885EnsemblClinVar.1
    Natural variantiVAR_076213360G → R in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs724160026EnsemblClinVar.1
    Natural variantiVAR_076214422R → Q in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs724160021EnsemblClinVar.1
    Natural variantiVAR_076215422R → W in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs724160020EnsemblClinVar.1
    Natural variantiVAR_076216430R → C in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076217451R → Q in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs863225431EnsemblClinVar.1
    Natural variantiVAR_076218472A → V in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076219475P → L in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs724160022EnsemblClinVar.1
    Natural variantiVAR_069468493E → V in COWCK; increases affinity for NADH and electron transfer activity; increases affinity for DNA, resulting in increased apoptosis. 1 PublicationCorresponds to variant dbSNP:rs281864468EnsemblClinVar.1
    Natural variantiVAR_076220498V → M in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs724160023EnsemblClinVar.1
    Natural variantiVAR_076221591I → M in DFNX5; unknown pathological significance. 1 Publication1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0462481 – 352Missing in isoform 5. 1 PublicationAdd BLAST352
    Alternative sequenceiVSP_0476461 – 87Missing in isoform 6. 1 PublicationAdd BLAST87
    Alternative sequenceiVSP_00435736 – 322Missing in isoform 2. 1 PublicationAdd BLAST287
    Alternative sequenceiVSP_02295336 – 82GNLFQ…VGAGA → VVQSHHLGSPSRSLASTGAS GKDGSNLVYFLIVGATVTGA GVY in isoform 3. 3 PublicationsAdd BLAST47
    Alternative sequenceiVSP_043637323 – 324AR → DI in isoform 4 and isoform 6. 1 Publication2
    Alternative sequenceiVSP_043638325 – 613Missing in isoform 4 and isoform 6. 1 PublicationAdd BLAST289

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF100928 mRNA Translation: AAD16436.1
    DQ016496 mRNA Translation: AAY84737.1
    DQ016498 mRNA Translation: AAY84739.1
    DQ016500 mRNA Translation: AAY84741.1
    AL049703 mRNA Translation: CAB41267.1
    AL049704 mRNA Translation: CAB41268.1
    AK314446 mRNA Translation: BAG37055.1
    CR457379 mRNA Translation: CAG33660.1
    AL139234 Genomic DNA No translation available.
    CH471107 Genomic DNA Translation: EAX11811.1
    CH471107 Genomic DNA Translation: EAX11812.1
    CH471107 Genomic DNA Translation: EAX11810.1
    BC111065 mRNA Translation: AAI11066.1
    BC139738 mRNA Translation: AAI39739.1
    AF131759 mRNA Translation: AAD20036.1
    CCDSiCCDS14618.1 [O95831-1]
    CCDS14619.1 [O95831-3]
    CCDS48167.1 [O95831-4]
    RefSeqiNP_001124318.2, NM_001130846.3
    NP_001124319.1, NM_001130847.3 [O95831-4]
    NP_004199.1, NM_004208.3 [O95831-1]
    NP_665811.1, NM_145812.2 [O95831-3]
    UniGeneiHs.424932

    Genome annotation databases

    EnsembliENST00000287295; ENSP00000287295; ENSG00000156709 [O95831-1]
    ENST00000319908; ENSP00000315122; ENSG00000156709 [O95831-3]
    ENST00000346424; ENSP00000316320; ENSG00000156709 [O95831-2]
    ENST00000416073; ENSP00000402535; ENSG00000156709 [O95831-4]
    ENST00000535724; ENSP00000446113; ENSG00000156709 [O95831-4]
    GeneIDi9131
    KEGGihsa:9131
    UCSCiuc004evg.4 human [O95831-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Similar proteinsi

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF100928 mRNA Translation: AAD16436.1
    DQ016496 mRNA Translation: AAY84737.1
    DQ016498 mRNA Translation: AAY84739.1
    DQ016500 mRNA Translation: AAY84741.1
    AL049703 mRNA Translation: CAB41267.1
    AL049704 mRNA Translation: CAB41268.1
    AK314446 mRNA Translation: BAG37055.1
    CR457379 mRNA Translation: CAG33660.1
    AL139234 Genomic DNA No translation available.
    CH471107 Genomic DNA Translation: EAX11811.1
    CH471107 Genomic DNA Translation: EAX11812.1
    CH471107 Genomic DNA Translation: EAX11810.1
    BC111065 mRNA Translation: AAI11066.1
    BC139738 mRNA Translation: AAI39739.1
    AF131759 mRNA Translation: AAD20036.1
    CCDSiCCDS14618.1 [O95831-1]
    CCDS14619.1 [O95831-3]
    CCDS48167.1 [O95831-4]
    RefSeqiNP_001124318.2, NM_001130846.3
    NP_001124319.1, NM_001130847.3 [O95831-4]
    NP_004199.1, NM_004208.3 [O95831-1]
    NP_665811.1, NM_145812.2 [O95831-3]
    UniGeneiHs.424932

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1M6IX-ray1.80A121-613[»]
    4BURX-ray2.88A/B/C/D103-613[»]
    4BV6X-ray1.80A121-613[»]
    4FDCX-ray2.40B103-613[»]
    4LIIX-ray1.88A100-611[»]
    5FMHX-ray1.80A104-613[»]
    5FS6X-ray1.90A/B103-613[»]
    5FS7X-ray1.85A/B103-613[»]
    5FS8X-ray1.40A103-613[»]
    5FS9X-ray1.75A/B103-613[»]
    5KVHX-ray2.27A/B78-613[»]
    5KVIX-ray2.00A78-613[»]
    ProteinModelPortaliO95831
    SMRiO95831
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi114579, 113 interactors
    CORUMiO95831
    DIPiDIP-32975N
    IntActiO95831, 229 interactors
    MINTiO95831
    STRINGi9606.ENSP00000287295

    Chemistry databases

    DrugBankiDB03147 Flavin adenine dinucleotide
    DB05282 MCC

    PTM databases

    CarbonylDBiO95831
    iPTMnetiO95831
    PhosphoSitePlusiO95831
    SwissPalmiO95831

    Polymorphism and mutation databases

    BioMutaiAIFM1

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00157908
    UCD-2DPAGEiO95831

    Proteomic databases

    EPDiO95831
    MaxQBiO95831
    PaxDbiO95831
    PeptideAtlasiO95831
    PRIDEiO95831
    ProteomicsDBi51073
    51074 [O95831-2]
    51075 [O95831-3]
    51076 [O95831-4]

    Protocols and materials databases

    DNASUi51060
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000287295; ENSP00000287295; ENSG00000156709 [O95831-1]
    ENST00000319908; ENSP00000315122; ENSG00000156709 [O95831-3]
    ENST00000346424; ENSP00000316320; ENSG00000156709 [O95831-2]
    ENST00000416073; ENSP00000402535; ENSG00000156709 [O95831-4]
    ENST00000535724; ENSP00000446113; ENSG00000156709 [O95831-4]
    GeneIDi9131
    KEGGihsa:9131
    UCSCiuc004evg.4 human [O95831-1]

    Organism-specific databases

    CTDi9131
    DisGeNETi9131
    EuPathDBiHostDB:ENSG00000156709.13
    GeneCardsiAIFM1
    HGNCiHGNC:8768 AIFM1
    HPAiCAB003764
    HPA030611
    MalaCardsiAIFM1
    MIMi300169 gene
    300614 phenotype
    300816 phenotype
    310490 phenotype
    neXtProtiNX_O95831
    OpenTargetsiENSG00000156709
    Orphaneti238329 Severe X-linked mitochondrial encephalomyopathy
    168448 Spondyloepimetaphyseal dysplasia, Bieganski type
    101078 X-linked Charcot-Marie-Tooth disease type 4
    139583 X-linked hereditary sensory and autonomic neuropathy with deafness
    PharmGKBiPA162376129
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG1346 Eukaryota
    COG0446 LUCA
    GeneTreeiENSGT00530000063416
    HOGENOMiHOG000124580
    HOVERGENiHBG056326
    InParanoidiO95831
    KOiK04727
    OMAiEGVNVMP
    OrthoDBiEOG091G05ST
    PhylomeDBiO95831
    TreeFamiTF314028

    Enzyme and pathway databases

    SABIO-RKiO95831
    SignaLinkiO95831
    SIGNORiO95831

    Miscellaneous databases

    ChiTaRSiAIFM1 human
    EvolutionaryTraceiO95831
    GeneWikiiAIFM1
    GenomeRNAii9131
    PROiPR:O95831
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000156709 Expressed in 213 organ(s), highest expression level in apex of heart
    CleanExiHS_AIFM1
    ExpressionAtlasiO95831 baseline and differential
    GenevisibleiO95831 HS

    Family and domain databases

    Gene3Di3.30.390.30, 1 hit
    3.50.50.60, 2 hits
    InterProiView protein in InterPro
    IPR029324 AIF_C
    IPR036188 FAD/NAD-bd_sf
    IPR023753 FAD/NAD-binding_dom
    IPR016156 FAD/NAD-linked_Rdtase_dimer_sf
    PfamiView protein in Pfam
    PF14721 AIF_C, 1 hit
    PF07992 Pyr_redox_2, 1 hit
    SUPFAMiSSF51905 SSF51905, 2 hits
    SSF55424 SSF55424, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiAIFM1_HUMAN
    AccessioniPrimary (citable) accession number: O95831
    Secondary accession number(s): A4QPB4
    , B1ALN1, B2RB08, D3DTE9, Q1L6K4, Q1L6K6, Q2QKE4, Q5JUZ7, Q6I9X6, Q9Y3I3, Q9Y3I4
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: May 1, 1999
    Last modified: November 7, 2018
    This is version 196 of the entry and version 1 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

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