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Protein

Apoptosis-inducing factor 1, mitochondrial

Gene

AIFM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
    • electron carrier activity Source: ProtInc
    • FAD binding Source: Ensembl
    • NAD(P)H oxidase activity Source: UniProtKB
    • oxidoreductase activity, acting on NAD(P)H Source: UniProtKB

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Apoptosis

    Keywords - Ligandi

    DNA-binding, FAD, Flavoprotein, NAD

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000156709-MONOMER.
    SABIO-RKO95831.
    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

    HGNCiHGNC:8768. AIFM1.

    Subcellular locationi

    • Mitochondrion intermembrane space
    • Mitochondrion inner membrane
    • Cytoplasm
    • Nucleus
    • Cytoplasmperinuclear 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 :
    Isoform 5 :

    GO - Cellular componenti

    • cytosol Source: UniProtKB
    • mitochondrial inner membrane Source: UniProtKB
    • mitochondrial intermembrane space Source: UniProtKB
    • mitochondrion Source: UniProtKB
    • nucleus Source: UniProtKB
    • perinuclear region of cytoplasm Source: UniProtKB-SubCell
    Complete GO annotation...

    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 rs281864468dbSNPEnsembl.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 Publication1
    Natural variantiVAR_076212344L → F in DFNX5. 1 PublicationCorresponds to variant rs184474885dbSNPEnsembl.1
    Natural variantiVAR_076213360G → R in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant rs724160026dbSNPEnsembl.1
    Natural variantiVAR_076214422R → Q in DFNX5. 1 PublicationCorresponds to variant rs724160021dbSNPEnsembl.1
    Natural variantiVAR_076215422R → W in DFNX5. 1 PublicationCorresponds to variant rs724160020dbSNPEnsembl.1
    Natural variantiVAR_076216430R → C in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076217451R → Q in DFNX5. 1 Publication1
    Natural variantiVAR_076218472A → V in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076219475P → L in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant rs724160022dbSNPEnsembl.1
    Natural variantiVAR_076220498V → M in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant rs724160023dbSNPEnsembl.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

    Organism-specific databases

    DisGeNETi9131.
    MalaCardsiAIFM1.
    MIMi300614. phenotype.
    300816. phenotype.
    310490. phenotype.
    OpenTargetsiENSG00000156709.
    Orphaneti238329. Severe X-linked mitochondrial encephalomyopathy.
    101078. X-linked Charcot-Marie-Tooth disease type 4.
    PharmGKBiPA162376129.

    Chemistry databases

    DrugBankiDB03147. Flavin adenine dinucleotide.

    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.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00157908.
    UCD-2DPAGEO95831.

    PTM databases

    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.
    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

    WithEntry#Exp.IntActNotes
    EIF3GO758219EBI-356440,EBI-366632
    KANK2Q63ZY32EBI-356440,EBI-2556193
    KANK2Q63ZY3-24EBI-356440,EBI-6244894
    TSC22D4Q9Y3Q82EBI-356440,EBI-739485

    Protein-protein interaction databases

    BioGridi114579. 92 interactors.
    DIPiDIP-32975N.
    IntActiO95831. 50 interactors.
    MINTiMINT-209209.
    STRINGi9606.ENSP00000287295.

    Structurei

    Secondary structure

    1613
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Beta strandi130 – 138Combined sources9
    Helixi141 – 153Combined sources13
    Beta strandi158 – 162Combined sources5
    Beta strandi164 – 167Combined sources4
    Helixi173 – 176Combined sources4
    Helixi178 – 180Combined sources3
    Helixi187 – 190Combined sources4
    Beta strandi192 – 194Combined sources3
    Beta strandi200 – 206Combined sources7
    Helixi208 – 210Combined sources3
    Turni214 – 219Combined sources6
    Beta strandi224 – 228Combined sources5
    Beta strandi233 – 237Combined sources5
    Turni238 – 241Combined sources4
    Beta strandi242 – 245Combined sources4
    Beta strandi250 – 258Combined sources9
    Beta strandi262 – 264Combined sources3
    Helixi268 – 271Combined sources4
    Helixi275 – 279Combined sources5
    Beta strandi281 – 283Combined sources3
    Helixi287 – 299Combined sources13
    Beta strandi301 – 306Combined sources6
    Helixi310 – 326Combined sources17
    Beta strandi329 – 333Combined sources5
    Beta strandi335 – 338Combined sources4
    Turni339 – 343Combined sources5
    Helixi346 – 358Combined sources13
    Beta strandi362 – 364Combined sources3
    Beta strandi369 – 375Combined sources7
    Beta strandi378 – 383Combined sources6
    Beta strandi388 – 396Combined sources9
    Beta strandi400 – 402Combined sources3
    Helixi407 – 410Combined sources4
    Turni416 – 418Combined sources3
    Beta strandi420 – 422Combined sources3
    Beta strandi427 – 430Combined sources4
    Beta strandi433 – 435Combined sources3
    Helixi437 – 439Combined sources3
    Beta strandi440 – 444Combined sources5
    Turni445 – 447Combined sources3
    Beta strandi448 – 450Combined sources3
    Helixi455 – 468Combined sources14
    Turni469 – 471Combined sources3
    Beta strandi481 – 487Combined sources7
    Beta strandi491 – 496Combined sources6
    Beta strandi504 – 509Combined sources6
    Beta strandi513 – 515Combined sources3
    Helixi517 – 524Combined sources8
    Helixi529 – 533Combined sources5
    Beta strandi562 – 569Combined sources8
    Beta strandi572 – 580Combined sources9
    Helixi585 – 594Combined sources10
    Helixi601 – 605Combined sources5
    Helixi606 – 608Combined sources3

    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[»]
    5FS6X-ray1.90A/B103-613[»]
    5FS7X-ray1.85A/B103-613[»]
    5FS8X-ray1.40A103-613[»]
    5FS9X-ray1.75A/B103-613[»]
    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.
    HOVERGENiHBG053538.
    InParanoidiO95831.
    KOiK04727.
    OMAiWYTPNPN.
    OrthoDBiEOG091G05ST.
    PhylomeDBiO95831.
    TreeFamiTF314028.

    Family and domain databases

    Gene3Di3.30.390.30. 1 hit.
    3.50.50.60. 3 hits.
    InterProiIPR029324. AIF_C.
    IPR023753. FAD/NAD-binding_dom.
    IPR016156. FAD/NAD-linked_Rdtase_dimer.
    IPR004099. Pyr_nucl-diS_OxRdtase_dimer.
    [Graphical view]
    PfamiPF14721. AIF_C. 1 hit.
    PF07992. Pyr_redox_2. 1 hit.
    [Graphical view]
    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

    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

    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 Publication1
    Natural variantiVAR_067334308G → E in COXPD6; with prenatal ventriculomegaly and severe postnatal encephalomyopathy. 1 Publication1
    Natural variantiVAR_076212344L → F in DFNX5. 1 PublicationCorresponds to variant rs184474885dbSNPEnsembl.1
    Natural variantiVAR_076213360G → R in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant rs724160026dbSNPEnsembl.1
    Natural variantiVAR_076214422R → Q in DFNX5. 1 PublicationCorresponds to variant rs724160021dbSNPEnsembl.1
    Natural variantiVAR_076215422R → W in DFNX5. 1 PublicationCorresponds to variant rs724160020dbSNPEnsembl.1
    Natural variantiVAR_076216430R → C in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076217451R → Q in DFNX5. 1 Publication1
    Natural variantiVAR_076218472A → V in DFNX5; unknown pathological significance. 1 Publication1
    Natural variantiVAR_076219475P → L in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant rs724160022dbSNPEnsembl.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 rs281864468dbSNPEnsembl.1
    Natural variantiVAR_076220498V → M in DFNX5; unknown pathological significance. 1 PublicationCorresponds to variant rs724160023dbSNPEnsembl.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. Translation: CAI42778.1.
    AL139234 Genomic DNA. Translation: CAI42779.1.
    AL139234 Genomic DNA. Translation: CAI42780.1.
    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

    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. Translation: CAI42778.1.
    AL139234 Genomic DNA. Translation: CAI42779.1.
    AL139234 Genomic DNA. Translation: CAI42780.1.
    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[»]
    5FS6X-ray1.90A/B103-613[»]
    5FS7X-ray1.85A/B103-613[»]
    5FS8X-ray1.40A103-613[»]
    5FS9X-ray1.75A/B103-613[»]
    ProteinModelPortaliO95831.
    SMRiO95831.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi114579. 92 interactors.
    DIPiDIP-32975N.
    IntActiO95831. 50 interactors.
    MINTiMINT-209209.
    STRINGi9606.ENSP00000287295.

    Chemistry databases

    DrugBankiDB03147. Flavin adenine dinucleotide.

    PTM databases

    iPTMnetiO95831.
    PhosphoSitePlusiO95831.
    SwissPalmiO95831.

    Polymorphism and mutation databases

    BioMutaiAIFM1.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00157908.
    UCD-2DPAGEO95831.

    Proteomic databases

    EPDiO95831.
    MaxQBiO95831.
    PaxDbiO95831.
    PeptideAtlasiO95831.
    PRIDEiO95831.

    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.
    GeneCardsiAIFM1.
    HGNCiHGNC:8768. AIFM1.
    HPAiCAB003764.
    HPA030611.
    MalaCardsiAIFM1.
    MIMi300169. gene.
    300614. phenotype.
    300816. phenotype.
    310490. phenotype.
    neXtProtiNX_O95831.
    OpenTargetsiENSG00000156709.
    Orphaneti238329. Severe X-linked mitochondrial encephalomyopathy.
    101078. X-linked Charcot-Marie-Tooth disease type 4.
    PharmGKBiPA162376129.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG1346. Eukaryota.
    COG0446. LUCA.
    GeneTreeiENSGT00530000063416.
    HOGENOMiHOG000124580.
    HOVERGENiHBG053538.
    InParanoidiO95831.
    KOiK04727.
    OMAiWYTPNPN.
    OrthoDBiEOG091G05ST.
    PhylomeDBiO95831.
    TreeFamiTF314028.

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000156709-MONOMER.
    SABIO-RKO95831.
    SignaLinkiO95831.
    SIGNORiO95831.

    Miscellaneous databases

    ChiTaRSiAIFM1. human.
    EvolutionaryTraceiO95831.
    GeneWikiiAIFM1.
    GenomeRNAii9131.
    PROiO95831.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000156709.
    CleanExiHS_AIFM1.
    ExpressionAtlasiO95831. baseline and differential.
    GenevisibleiO95831. HS.

    Family and domain databases

    Gene3Di3.30.390.30. 1 hit.
    3.50.50.60. 3 hits.
    InterProiIPR029324. AIF_C.
    IPR023753. FAD/NAD-binding_dom.
    IPR016156. FAD/NAD-linked_Rdtase_dimer.
    IPR004099. Pyr_nucl-diS_OxRdtase_dimer.
    [Graphical view]
    PfamiPF14721. AIF_C. 1 hit.
    PF07992. Pyr_redox_2. 1 hit.
    [Graphical view]
    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 historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: May 1, 1999
    Last modified: November 30, 2016
    This is version 175 of the entry and version 1 of the sequence. [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. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.