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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 Enzymes Human disease related genes Potential drug targets
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
1
Cytoband
p36.12
Chromosome location (bp)
23019443 - 23083689
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Histone demethylase that can demethylate both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context 1,2,3,4,5,6,7. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed 8,9,10,11. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono-(H3K4me1) and di-methylated (H3K4me2) H3K4me 12,13,14,15. May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity 16,17,18,19,20. Also acts as a coactivator of androgen receptor (AR)-dependent transcription, by being recruited to AR target genes and mediating demethylation of H3K9me, a specific tag for epigenetic transcriptional repression. The presence of PRKCB in AR-containing complexes, which mediates phosphorylation of 'Thr-6' of histone H3 (H3T6ph), a specific tag that prevents demethylation H3K4me, prevents H3K4me demethylase activity of KDM1A 21. Demethylates di-methylated 'Lys-370' of p53/TP53 which prevents interaction of p53/TP53 with TP53BP1 and represses p53/TP53-mediated transcriptional activation. Demethylates and stabilizes the DNA methylase DNMT1 22. Demethylates methylated 'Lys-42' and methylated 'Lys-117' of SOX2 23. Required for gastrulation during embryogenesis. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development 24,25. Facilitates epithelial-to-mesenchymal transition by acting as an effector of SNAI1-mediated transcription repression of epithelial markers E-cadherin/CDH1, CDN7 and KRT8 26,27. Required for the maintenance of the silenced state of the SNAI1 target genes E-cadherin/CDH1 and CDN7 28....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
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
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]...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.
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0002039[p53 binding] GO:0002052[positive regulation of neuroblast proliferation] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006482[protein demethylation] GO:0010569[regulation of double-strand break repair via homologous recombination] GO:0016491[oxidoreductase activity] GO:0019899[enzyme binding] GO:0030374[nuclear receptor coactivator activity] GO:0031398[positive regulation of protein ubiquitination] GO:0032091[negative regulation of protein binding] GO:0032451[demethylase activity] GO:0032452[histone demethylase activity] GO:0032453[histone H3-methyl-lysine-4 demethylase activity] GO:0032454[histone H3K9 demethylase activity] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0034720[histone H3-K4 demethylation] GO:0043392[negative regulation of DNA binding] GO:0043426[MRF binding] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043518[negative regulation of DNA damage response, signal transduction by p53 class mediator] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050660[flavin adenine dinucleotide binding] GO:0050681[nuclear androgen receptor binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051572[negative regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0055001[muscle cell development] GO:0060765[regulation of androgen receptor signaling pathway] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061752[telomeric repeat-containing RNA binding] GO:0071480[cellular response to gamma radiation] GO:0090308[regulation of DNA methylation-dependent heterochromatin formation] GO:0120162[positive regulation of cold-induced thermogenesis] GO:0140297[DNA-binding transcription factor binding] GO:0140682[histone H3-di/monomethyl-lysine-4 FAD-dependent demethylase activity] GO:0140861[DNA repair-dependent chromatin remodeling] GO:1902166[negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:1990391[DNA repair complex] GO:1990841[promoter-specific chromatin binding] GO:2000179[positive regulation of neural precursor cell proliferation] GO:2000648[positive regulation of stem cell proliferation]
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000380[alternative mRNA splicing, via spliceosome] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0002039[p53 binding] GO:0002052[positive regulation of neuroblast proliferation] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006482[protein demethylation] GO:0010569[regulation of double-strand break repair via homologous recombination] GO:0010976[positive regulation of neuron projection development] GO:0014070[response to organic cyclic compound] GO:0016491[oxidoreductase activity] GO:0016570[histone modification] GO:0019899[enzyme binding] GO:0021987[cerebral cortex development] GO:0030374[nuclear receptor coactivator activity] GO:0031398[positive regulation of protein ubiquitination] GO:0032091[negative regulation of protein binding] GO:0032451[demethylase activity] GO:0032452[histone demethylase activity] GO:0032453[histone H3-methyl-lysine-4 demethylase activity] GO:0032454[histone H3K9 demethylase activity] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0034720[histone H3-K4 demethylation] GO:0035563[positive regulation of chromatin binding] GO:0042551[neuron maturation] GO:0043392[negative regulation of DNA binding] GO:0043426[MRF binding] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043518[negative regulation of DNA damage response, signal transduction by p53 class mediator] GO:0045793[positive regulation of cell size] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046098[guanine metabolic process] GO:0050660[flavin adenine dinucleotide binding] GO:0050681[nuclear androgen receptor binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051572[negative regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0055001[muscle cell development] GO:0060765[regulation of androgen receptor signaling pathway] GO:0060992[response to fungicide] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061752[telomeric repeat-containing RNA binding] GO:0071320[cellular response to cAMP] GO:0071480[cellular response to gamma radiation] GO:0090308[regulation of DNA methylation-dependent heterochromatin formation] GO:0120162[positive regulation of cold-induced thermogenesis] GO:0140297[DNA-binding transcription factor binding] GO:0140682[histone H3-di/monomethyl-lysine-4 FAD-dependent demethylase activity] GO:0140861[DNA repair-dependent chromatin remodeling] GO:1902166[negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:1990391[DNA repair complex] GO:1990841[promoter-specific chromatin binding] GO:2000179[positive regulation of neural precursor cell proliferation] GO:2000648[positive regulation of stem cell proliferation]
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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