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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
q26.1
Chromosome location (bp)
130124666 - 130165879
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions both as NADH oxidoreductase and as regulator of apoptosis 1,2,3,4. 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 5. Release into the cytoplasm is mediated upon binding to poly-ADP-ribose chains (By similarity). The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA 6. Binds to DNA in a sequence-independent manner 7. Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis 8. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells 9. 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 10....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
FAD, Flavoprotein, NAD
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0002931[response to ischemia] GO:0003677[DNA binding] GO:0003954[NADH dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005758[mitochondrial intermembrane space] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0009636[response to toxic substance] GO:0012501[programmed cell death] GO:0016020[membrane] GO:0016174[NAD(P)H oxidase H2O2-forming activity] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0030261[chromosome condensation] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033108[mitochondrial respiratory chain complex assembly] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0045041[protein import into mitochondrial intermembrane space] GO:0046983[protein dimerization activity] GO:0048471[perinuclear region of cytoplasm] GO:0050660[flavin adenine dinucleotide binding] GO:0051402[neuron apoptotic process] GO:0060545[positive regulation of necroptotic process] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070301[cellular response to hydrogen peroxide] GO:0071392[cellular response to estradiol stimulus] GO:0071732[cellular response to nitric oxide] GO:0071949[FAD binding] GO:0072572[poly-ADP-D-ribose binding] GO:0090650[cellular response to oxygen-glucose deprivation] GO:1902065[response to L-glutamate] GO:1902510[regulation of apoptotic DNA fragmentation] GO:1904045[cellular response to aldosterone]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003954[NADH dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005758[mitochondrial intermembrane space] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0012501[programmed cell death] GO:0016020[membrane] GO:0016174[NAD(P)H oxidase H2O2-forming activity] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0030261[chromosome condensation] GO:0033108[mitochondrial respiratory chain complex assembly] GO:0043065[positive regulation of apoptotic process] GO:0045041[protein import into mitochondrial intermembrane space] GO:0046983[protein dimerization activity] GO:0048471[perinuclear region of cytoplasm] GO:0050660[flavin adenine dinucleotide binding] GO:0060545[positive regulation of necroptotic process] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0071949[FAD binding] GO:0072572[poly-ADP-D-ribose binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003954[NADH dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005758[mitochondrial intermembrane space] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0012501[programmed cell death] GO:0016020[membrane] GO:0016174[NAD(P)H oxidase H2O2-forming activity] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0030261[chromosome condensation] GO:0033108[mitochondrial respiratory chain complex assembly] GO:0043065[positive regulation of apoptotic process] GO:0045041[protein import into mitochondrial intermembrane space] GO:0046983[protein dimerization activity] GO:0048471[perinuclear region of cytoplasm] GO:0050660[flavin adenine dinucleotide binding] GO:0060545[positive regulation of necroptotic process] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0071949[FAD binding] GO:0072572[poly-ADP-D-ribose binding]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0003677[DNA binding] GO:0003954[NADH dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005758[mitochondrial intermembrane space] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0012501[programmed cell death] GO:0016020[membrane] GO:0016174[NAD(P)H oxidase H2O2-forming activity] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0030182[neuron differentiation] GO:0030261[chromosome condensation] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033108[mitochondrial respiratory chain complex assembly] GO:0043065[positive regulation of apoptotic process] GO:0045041[protein import into mitochondrial intermembrane space] GO:0046983[protein dimerization activity] GO:0048471[perinuclear region of cytoplasm] GO:0050660[flavin adenine dinucleotide binding] GO:0060545[positive regulation of necroptotic process] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0071949[FAD binding] GO:0072572[poly-ADP-D-ribose binding]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Ear disease Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
The Human Protein Atlas project is funded
