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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.
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
7
Cytoband
q36.2
Chromosome location (bp)
154943687 - 155003124
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at 'Ser-25'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys-4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA recombination, DNA repair, Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [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 Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006281[DNA repair] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0010212[response to ionizing radiation] GO:0016363[nuclear matrix] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0031398[positive regulation of protein ubiquitination] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044666[MLL3/4 complex] GO:0045830[positive regulation of isotype switching] GO:0051568[histone H3-K4 methylation] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0060261[positive regulation of transcription initiation by RNA polymerase II]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0001570[vasculogenesis] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006281[DNA repair] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0010212[response to ionizing radiation] GO:0016363[nuclear matrix] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0031398[positive regulation of protein ubiquitination] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043542[endothelial cell migration] GO:0044666[MLL3/4 complex] GO:0045830[positive regulation of isotype switching] GO:0048304[positive regulation of isotype switching to IgG isotypes] GO:0051568[histone H3-K4 methylation] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0060261[positive regulation of transcription initiation by RNA polymerase II] GO:0060612[adipose tissue development] GO:0060717[chorion development] GO:1902749[regulation of cell cycle G2/M phase transition] GO:2001022[positive regulation of response to DNA damage stimulus]
The Human Protein Atlas project is funded
