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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 Plasma proteins 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
7
Cytoband
q11.23
Chromosome location (bp)
73440406 - 73522293
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator1. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph) 2,3. H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress 4,5. Regulatory subunit of the ATP-dependent WICH-1 and WICH-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair 6,7. Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template 8. The WICH-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the WICH-5 ISWI chromatin remodeling complex 9. The WICH-5 ISWI chromatin-remodeling complex regulates the transcription of various genes, has a role in RNA polymerase I transcription (By similarity). Within the B-WICH complex has a role in RNA polymerase III transcription 10. Mediates the recruitment of the WICH-5 ISWI chromatin remodeling complex to replication foci during DNA replication 11....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Kinase, Transferase, Tyrosine-protein kinase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, 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.
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [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.
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Other congenital disorders Chromosomal abnormalities 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:0000166[nucleotide binding] GO:0000785[chromatin] GO:0000793[condensed chromosome] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005721[pericentric heterochromatin] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008270[zinc ion binding] GO:0010604[positive regulation of macromolecule metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0035066[positive regulation of histone acetylation] GO:0035173[histone kinase activity] GO:0042393[histone binding] GO:0043596[nuclear replication fork] GO:0043687[post-translational protein modification] GO:0045935[positive regulation of nucleobase-containing compound metabolic process] GO:0045943[positive regulation of transcription by RNA polymerase I] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045945[positive regulation of transcription by RNA polymerase III] GO:0046872[metal ion binding] GO:0090535[WICH complex] GO:0110016[B-WICH complex] GO:0140801[histone kinase activity (H2A-Y142 specific)] GO:1905213[negative regulation of mitotic chromosome condensation] GO:2001020[regulation of response to DNA damage stimulus]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000785[chromatin] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005721[pericentric heterochromatin] GO:0005730[nucleolus] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008270[zinc ion binding] GO:0010604[positive regulation of macromolecule metabolic process] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0035066[positive regulation of histone acetylation] GO:0035173[histone kinase activity] GO:0042393[histone binding] GO:0043596[nuclear replication fork] GO:0043687[post-translational protein modification] GO:0045935[positive regulation of nucleobase-containing compound metabolic process] GO:0045943[positive regulation of transcription by RNA polymerase I] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045945[positive regulation of transcription by RNA polymerase III] GO:0046872[metal ion binding] GO:0090535[WICH complex] GO:0110016[B-WICH complex] GO:0140801[histone kinase activity (H2A-Y142 specific)] GO:1905213[negative regulation of mitotic chromosome condensation] GO:2001020[regulation of response to DNA damage stimulus]
The Human Protein Atlas project is funded
