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Entry version 216 (29 Sep 2021)
Sequence version 1 (01 May 1999)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:20362274, PubMed:23217327, PubMed:17094969).

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. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA (By similarity).

Binds to DNA in a sequence-independent manner (PubMed:27178839).

Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis (PubMed:17094969).

Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells (PubMed:19418225).

In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import (PubMed:26004228).

By similarity6 Publications

Has NADH oxidoreductase activity. Does not induce nuclear apoptosis.

1 Publication

Pro-apoptotic isoform.

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

FAD4 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 86 min(-1) for dichlorophenolindophenol reduction and 24 min(-1) for cytochrom c reduction (PubMed:27178839). kcat is 1.5 sec(-1) for dichlorophenolindophenol reduction, 3.1 sec(-1) for ferricyanide and 0.6 sec(-1) for cytochrom c reduction (PubMed:24914854).2 Publications
  1. KM=1.53 mM for NADH1 Publication
  2. KM=26 µM for cytochrome c (at pH 7.4 and 25 degrees Celsius)2 Publications
  3. KM=138 µM for dichlorophenolindophenol (at pH 7.4 and 25 degrees Celsius)1 Publication
  4. KM=0.51 mM for NADH (at pH 7.4 and 25 degrees Celsius)1 Publication
  5. KM=896 µM for NADPH1 Publication
  1. KM=102.6 µM for NADH1 Publication
  2. KM=45.3 µM for NADPH1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei172FADCombined sources5 Publications1
Binding sitei177FADCombined sources4 Publications1
Binding sitei196NAD 2Combined sources1 Publication1
Binding sitei233FAD; via amide nitrogen and carbonyl oxygenCombined sources5 Publications1
Binding sitei285FADCombined sources5 Publications1
Binding sitei336NAD 1Combined sources1 Publication1
Binding sitei342NAD 1By similarity1
Binding sitei399NAD 1; via amide nitrogenCombined sources1 Publication1
Binding sitei438FADCombined sources5 Publications1
Binding sitei483FAD; via carbonyl oxygenCombined sources5 Publications1
Binding sitei483NAD 1; via carbonyl oxygenCombined sources1 Publication1
Binding sitei493NAD 2Combined sources1 Publication1
Binding sitei583NAD 2Combined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi138 – 142FADCombined sources5 Publications5
Nucleotide bindingi164 – 165FADCombined sources5 Publications2
Nucleotide bindingi308 – 311NAD 1Combined sources1 Publication4
Nucleotide bindingi453 – 454NAD 1Combined sources1 Publication2
Nucleotide bindingi454 – 455FADCombined sources4 Publications2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
7.1.1.2, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
O95831

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
O95831

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O95831

SIGNOR Signaling Network Open Resource

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SIGNORi
O95831

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Apoptosis-inducing factor 1, mitochondrialCurated (EC:1.6.99.-3 Publications)
Alternative name(s):
Programmed cell death protein 8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AIFM1Imported
Synonyms:AIF, PDCD8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:8768, AIFM1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300169, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O95831

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000156709

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined oxidative phosphorylation deficiency 6 (COXPD6)6 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063827201Missing in COXPD6; higher DNA binding affinity, partially impaired flavin binding and association with increased parthanatos-linked cell death. 1 PublicationCorresponds to variant dbSNP:rs387906500Ensembl.1
Natural variantiVAR_072791243V → L in COXPD6; reduced protein amount in muscle compared to controls; no effect on reduction with NADH; strongly decreased NADH oxidase activity; no effect on dimerization; no effect on DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs1603225138EnsemblClinVar.1
Natural variantiVAR_067334308G → E in COXPD6; with prenatal ventriculomegaly and severe postnatal encephalomyopathy; no effect on redox potential; slowered reduction with NADH; strongly decreased NADH oxidase activity; strongly decreased NADH oxidase activity; no effect on DNA-binding; decreased interaction with CHCHDE. 3 PublicationsCorresponds to variant dbSNP:rs1603224226EnsemblClinVar.1
Natural variantiVAR_083068338G → E in COXPD6; with early-onset severe motor neuron involvement; decreased protein levels; decreased oxidoreductase activity on cytochrome C; slowered reduction with NADH; strongly decreased NADH oxidase activity; strongly decreased NADH oxidase activity; no effect on DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs1603223152EnsemblClinVar.1
Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia (CMTX4)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069468493E → V in CMTX4; increases affinity for NADH and electron transfer activity; increases affinity for DNA, resulting in increased apoptosis; no effect on interaction with CHCHD4. 2 PublicationsCorresponds to variant dbSNP:rs281864468EnsemblClinVar.1
Deafness, X-linked, 5, with peripheral neuropathy (DFNX5)1 Publication
The disease is caused by variants 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.
Related information in OMIM
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 PublicationCorresponds to variant dbSNP:rs1223488720Ensembl.1
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
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083739235Q → H in SEMDHL; severe decrease of protein expression. 1 PublicationCorresponds to variant dbSNP:rs377527583EnsemblClinVar.1
Natural variantiVAR_083740237D → G in SEMDHL. 1 PublicationCorresponds to variant dbSNP:rs1202786652EnsemblClinVar.1
Natural variantiVAR_083741237D → V in SEMDHL. 1 PublicationCorresponds to variant dbSNP:rs1202786652EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi196W → A: Increases protein dimerization at lower NADH levels. 1 Publication1
Mutagenesisi413 – 430EIDSD…ELQAR → AIDSDFGGFAVNAELQAA: Disrupts dimerization. Lower efficiency in stabilizing charge-transfer complexes upon coenzyme reduction. 1 PublicationAdd BLAST18
Mutagenesisi443 – 445YDI → ADA: Disrupts dimerization. Disrupts dimerization; when associated with A-477. 1 Publication3
Mutagenesisi454H → A: Allows dimerization in absence of NADH. 1 Publication1
Mutagenesisi477W → A: Disrupts dimerization; when associated with A-443--445-A. 1 Publication1
Mutagenesisi480S → A: Allows dimerization in absence of NADH. 1 Publication1
Mutagenesisi485D → A: Increases protein dimerization at lower NADH levels. 1 Publication1
Mutagenesisi529R → A: Increases protein dimerization at lower NADH levels. 1 Publication1
Mutagenesisi531E → A: Increases protein dimerization at lower NADH levels. 1 Publication1
Mutagenesisi533E → A: Increases protein dimerization at lower NADH levels. 1 Publication1
Mutagenesisi535E → A: Increases protein dimerization at lower NADH levels. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
9131

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
AIFM1

MalaCards human disease database

More...
MalaCardsi
AIFM1
MIMi300232, phenotype
300614, phenotype
300816, phenotype
310490, phenotype

Open Targets

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OpenTargetsi
ENSG00000156709

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
83629, Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
238329, Severe X-linked mitochondrial encephalomyopathy
101078, X-linked Charcot-Marie-Tooth disease type 4
139583, X-linked hereditary sensory and autonomic neuropathy with deafness

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162376129

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
O95831, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4295688

Drug and drug target database

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DrugBanki
DB03147, Flavin adenine dinucleotide
DB05282, MCC

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AIFM1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 54MitochondrionCombined sources2 PublicationsAdd BLAST54
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000040193555 – 101Removed in mature form1 PublicationAdd BLAST47
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000022030102 – 613Apoptosis-inducing factor 1, mitochondrialAdd BLAST512

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei105PhosphothreonineCombined sources1
Modified residuei109N6-succinyllysineBy similarity1
Modified residuei116PhosphoserineCombined sources1
Modified residuei118PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
O95831

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O95831

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O95831

MaxQB - The MaxQuant DataBase

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MaxQBi
O95831

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O95831

PeptideAtlas

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PeptideAtlasi
O95831

PRoteomics IDEntifications database

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PRIDEi
O95831

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
23386
51073 [O95831-1]
51074 [O95831-2]
51075 [O95831-3]
51076 [O95831-4]
61222
61439

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00157908

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
O95831

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
O95831

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
O95831, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95831

MetOSite database of methionine sulfoxide sites

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MetOSitei
O95831

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O95831

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O95831

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tested tissues (PubMed:16644725). Detected in muscle and skin fibroblasts (at protein level) (PubMed:23217327). Expressed in osteoblasts (at protein level) (PubMed:28842795).3 Publications
Brain specific.1 Publication
Expressed in all tested tissues except brain.1 Publication
Isoform 5 is frequently down-regulated in human cancers.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Strongly down-regulated in many tumor cells, up-regulated by gamma-irradiation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000156709, Expressed in adult mammalian kidney and 228 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95831, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95831, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000156709, Tissue enhanced (kidney)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (oxidized form). Homodimer (reduced form). Upon reduction with NADH, undergoes dimerization and forms tight, long-lived FADH2-NAD charge transfer complexes (CTC) resistant to oxidation (PubMed:24914854, PubMed:20111043, PubMed:23217327, PubMed:27818101). Also dimerizes with isoform 3 preventing its release from mitochondria (PubMed:20111043).

Interacts with XIAP/BIRC4 (PubMed:17967870).

Interacts (via N-terminus) with EIF3G (via C-terminus) (PubMed:17094969).

Interacts with PRELID1 (PubMed:21364629).

Interacts with CHCHD4; the interaction increases in presence of NADH (PubMed:26004228).

8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114579, 395 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O95831

Database of interacting proteins

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DIPi
DIP-32975N

Protein interaction database and analysis system

More...
IntActi
O95831, 278 interactors

Molecular INTeraction database

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MINTi
O95831

STRING: functional protein association networks

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STRINGi
9606.ENSP00000287295

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
O95831, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O95831

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O95831

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni100 – 127DisorderedSequence analysisAdd BLAST28
Regioni134 – 483FAD-dependent oxidoreductaseBy similarityAdd BLAST350
Regioni513 – 554DisorderedSequence analysisAdd BLAST42

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1 – 31Mitochondrial localization signalBy similarityAdd BLAST31
Motifi63 – 89Mitochondrial localization signalBy similarityAdd BLAST27
Motifi446 – 451Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi514 – 546Polar residuesSequence analysisAdd BLAST33

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1346, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000156455

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1059750_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95831

Identification of Orthologs from Complete Genome Data

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OMAi
EVRYERC

Database of Orthologous Groups

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OrthoDBi
830428at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95831

TreeFam database of animal gene trees

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TreeFami
TF314028

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.390.30, 1 hit
3.50.50.60, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029324, AIF_C
IPR036188, FAD/NAD-bd_sf
IPR023753, FAD/NAD-binding_dom
IPR016156, FAD/NAD-linked_Rdtase_dimer_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14721, AIF_C, 1 hit
PF07992, Pyr_redox_2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51905, SSF51905, 2 hits
SSF55424, SSF55424, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 17 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:609
Mass (Da):66,295
Checksum:i313ADD6FA4E5D61A
GO
Isoform 4 (identifier: O95831-4) [UniParc]FASTAAdd to basket
Also known as: AIFsh21 Publication

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

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.

Show »
Length:261
Mass (Da):28,404
Checksum:iB05C9E9F3AA3F2E3
GO
Isoform 6 (identifier: O95831-6) [UniParc]FASTAAdd to basket
Also known as: AIFsh31 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     37-43: NLFQRWH → LQDYERG
     44-613: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:43
Mass (Da):4,812
Checksum:iC0B6CFE500BB706E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 17 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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFE1A0A6Q8PFE1_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
622Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFM5A0A6Q8PFM5_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
612Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFQ8A0A6Q8PFQ8_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
565Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PG15A0A6Q8PG15_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
612Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHC0A0A6Q8PHC0_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
609Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHJ9A0A6Q8PHJ9_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
611Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A7I2PK44A0A7I2PK44_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
611Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFS4A0A6Q8PFS4_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
589Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHJ4A0A6Q8PHJ4_HUMAN
Apoptosis-inducing factor 1, mitoch...
AIFM1
229Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAY84741 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

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 PublicationCorresponds to variant dbSNP:rs387906500Ensembl.1
Natural variantiVAR_083739235Q → H in SEMDHL; severe decrease of protein expression. 1 PublicationCorresponds to variant dbSNP:rs377527583EnsemblClinVar.1
Natural variantiVAR_083740237D → G in SEMDHL. 1 PublicationCorresponds to variant dbSNP:rs1202786652EnsemblClinVar.1
Natural variantiVAR_083741237D → V in SEMDHL. 1 PublicationCorresponds to variant dbSNP:rs1202786652EnsemblClinVar.1
Natural variantiVAR_072791243V → L in COXPD6; reduced protein amount in muscle compared to controls; no effect on reduction with NADH; strongly decreased NADH oxidase activity; no effect on dimerization; no effect on DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs1603225138EnsemblClinVar.1
Natural variantiVAR_076211260T → A in DFNX5. 1 PublicationCorresponds to variant dbSNP:rs863225432EnsemblClinVar.1
Natural variantiVAR_083067262G → S Probable disease-associated variant found in patient with mitochondrial encephalomyopathy with moderate clinical severity and slow progressive course despite early onset as well as and cerebellar involvement; decreased protein level; strongly decreased redox potential; strongly decreased NADH oxidase activity; no effect on DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs1603224817EnsemblClinVar.1
Natural variantiVAR_067334308G → E in COXPD6; with prenatal ventriculomegaly and severe postnatal encephalomyopathy; no effect on redox potential; slowered reduction with NADH; strongly decreased NADH oxidase activity; strongly decreased NADH oxidase activity; no effect on DNA-binding; decreased interaction with CHCHDE. 3 PublicationsCorresponds to variant dbSNP:rs1603224226EnsemblClinVar.1
Natural variantiVAR_083068338G → E in COXPD6; with early-onset severe motor neuron involvement; decreased protein levels; decreased oxidoreductase activity on cytochrome C; slowered reduction with NADH; strongly decreased NADH oxidase activity; strongly decreased NADH oxidase activity; no effect on DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs1603223152EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1223488720Ensembl.1
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 CMTX4; increases affinity for NADH and electron transfer activity; increases affinity for DNA, resulting in increased apoptosis; no effect on interaction with CHCHD4. 2 PublicationsCorresponds 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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0462481 – 352Missing in isoform 5. 1 PublicationAdd BLAST352
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_06078537 – 43NLFQRWH → LQDYERG in isoform 6. Curated7
Alternative sequenceiVSP_06078644 – 613Missing in isoform 6. CuratedAdd BLAST570
Alternative sequenceiVSP_043637323 – 324AR → DI in isoform 4. 1 Publication2
Alternative sequenceiVSP_043638325 – 613Missing in isoform 4. 1 PublicationAdd BLAST289

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF100928 mRNA Translation: AAD16436.1
DQ016496 mRNA Translation: AAY84737.1
DQ016498 mRNA Translation: AAY84739.1
DQ016500 mRNA Translation: AAY84741.1 Sequence problems.
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.
KF459397 Genomic DNA No translation available.
KF510638 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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14618.1 [O95831-1]
CCDS14619.1 [O95831-3]
CCDS48167.1 [O95831-4]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000287295; ENSP00000287295; ENSG00000156709 [O95831-1]
ENST00000346424; ENSP00000316320; ENSG00000156709 [O95831-2]
ENST00000527892; ENSP00000435955; ENSG00000156709 [O95831-6]
ENST00000535724; ENSP00000446113; ENSG00000156709 [O95831-4]
ENST00000674997; ENSP00000502124; ENSG00000156709 [O95831-6]
ENST00000675050; ENSP00000502606; ENSG00000156709 [O95831-3]
ENST00000675774; ENSP00000502690; ENSG00000156709 [O95831-6]
ENST00000676229; ENSP00000502184; ENSG00000156709 [O95831-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9131

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9131

UCSC genome browser

More...
UCSCi
uc004evg.4, human [O95831-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 Sequence problems.
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.
KF459397 Genomic DNA No translation available.
KF510638 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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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[»]
SMRiO95831
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114579, 395 interactors
CORUMiO95831
DIPiDIP-32975N
IntActiO95831, 278 interactors
MINTiO95831
STRINGi9606.ENSP00000287295

Chemistry databases

ChEMBLiCHEMBL4295688
DrugBankiDB03147, Flavin adenine dinucleotide
DB05282, MCC

PTM databases

CarbonylDBiO95831
GlyGeniO95831, 1 site, 1 O-linked glycan (1 site)
iPTMnetiO95831
MetOSiteiO95831
PhosphoSitePlusiO95831
SwissPalmiO95831

Genetic variation databases

BioMutaiAIFM1

2D gel databases

REPRODUCTION-2DPAGEiIPI00157908
UCD-2DPAGEiO95831

Proteomic databases

EPDiO95831
jPOSTiO95831
MassIVEiO95831
MaxQBiO95831
PaxDbiO95831
PeptideAtlasiO95831
PRIDEiO95831
ProteomicsDBi23386
51073 [O95831-1]
51074 [O95831-2]
51075 [O95831-3]
51076 [O95831-4]
61222
61439

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
O95831, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

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Antibodypediai
3528, 855 antibodies

The DNASU plasmid repository

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DNASUi
9131

Genome annotation databases

EnsembliENST00000287295; ENSP00000287295; ENSG00000156709 [O95831-1]
ENST00000346424; ENSP00000316320; ENSG00000156709 [O95831-2]
ENST00000527892; ENSP00000435955; ENSG00000156709 [O95831-6]
ENST00000535724; ENSP00000446113; ENSG00000156709 [O95831-4]
ENST00000674997; ENSP00000502124; ENSG00000156709 [O95831-6]
ENST00000675050; ENSP00000502606; ENSG00000156709 [O95831-3]
ENST00000675774; ENSP00000502690; ENSG00000156709 [O95831-6]
ENST00000676229; ENSP00000502184; ENSG00000156709 [O95831-3]
GeneIDi9131
KEGGihsa:9131
UCSCiuc004evg.4, human [O95831-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9131
DisGeNETi9131

GeneCards: human genes, protein and diseases

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GeneCardsi
AIFM1
GeneReviewsiAIFM1
HGNCiHGNC:8768, AIFM1
HPAiENSG00000156709, Tissue enhanced (kidney)
MalaCardsiAIFM1
MIMi300169, gene
300232, phenotype
300614, phenotype
300816, phenotype
310490, phenotype
neXtProtiNX_O95831
OpenTargetsiENSG00000156709
Orphaneti83629, Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
238329, Severe X-linked mitochondrial encephalomyopathy
101078, X-linked Charcot-Marie-Tooth disease type 4
139583, X-linked hereditary sensory and autonomic neuropathy with deafness
PharmGKBiPA162376129
VEuPathDBiHostDB:ENSG00000156709

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1346, Eukaryota
GeneTreeiENSGT00940000156455
HOGENOMiCLU_1059750_0_0_1
InParanoidiO95831
OMAiEVRYERC
OrthoDBi830428at2759
PhylomeDBiO95831
TreeFamiTF314028

Enzyme and pathway databases

BRENDAi7.1.1.2, 2681
PathwayCommonsiO95831
SABIO-RKiO95831
SignaLinkiO95831
SIGNORiO95831

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9131, 149 hits in 659 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
AIFM1, human
EvolutionaryTraceiO95831

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
AIFM1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9131
PharosiO95831, Tbio

Protein Ontology

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PROi
PR:O95831
RNActiO95831, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000156709, Expressed in adult mammalian kidney and 228 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAIFM1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95831
Secondary accession number(s): A4QPB4
, B1ALN1, B2RB08, D3DTE9, E9PRR0, Q1L6K4, Q1L6K6, Q2QKE4, Q5JUZ7, Q6I9X6, Q9Y3I3, Q9Y3I4
<p>This subsection of the 'Entry informat