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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
q28
Chromosome location (bp)
153947557 - 153971818
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional coregulator (By similarity). Involved in control of the cell cycle 1,2,3,4,5. Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 6,7. Coactivator for EGR2 and GABP2 8,9. Tethers the chromatin modifying Set1/Ash2 histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together 10. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 11. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues 12. Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition 13. Modulates expression of homeobox protein PDX1, perhaps acting in concert with transcription factor E2F1, thereby regulating pancreatic beta-cell growth and glucose-stimulated insulin secretion (By similarity). May negatively modulate transcriptional activity of FOXO3 (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Host-virus interaction
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Congenital disorders of cofactor/vitamin metabolism Other diseases Mental and behavioural disorders 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:0000123[histone acetyltransferase complex] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0007049[cell cycle] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0016020[membrane] GO:0019046[release from viral latency] GO:0030674[protein-macromolecule adaptor activity] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0042802[identical protein binding] GO:0043025[neuronal cell body] GO:0043254[regulation of protein-containing complex assembly] GO:0043981[histone H4-K5 acetylation] GO:0043982[histone H4-K8 acetylation] GO:0043984[histone H4-K16 acetylation] GO:0044545[NSL complex] GO:0044665[MLL1/2 complex] GO:0045296[cadherin binding] GO:0045787[positive regulation of cell cycle] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048188[Set1C/COMPASS complex] GO:0050821[protein stabilization] GO:0051568[histone H3-K4 methylation] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0071339[MLL1 complex] GO:0140297[DNA-binding transcription factor binding] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Congenital disorders of cofactor/vitamin metabolism Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Congenital disorders of cofactor/vitamin metabolism Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
