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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
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
10
Cytoband
p12.1
Chromosome location (bp)
28532493 - 28623112
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1) 1. Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription 2. Regulates the cell-cycle checkpoint activation in response to DNA damage 3. Positive regulator of amino acid starvation-induced autophagy 4. Also acts as a negative regulator of basal autophagy 5. Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation 6. May negatively regulate the ubiquitin proteasome pathway 7....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.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q9BTA9 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0000993[RNA polymerase II complex binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0010390[histone monoubiquitination] GO:0010506[regulation of autophagy] GO:0016239[positive regulation of macroautophagy] GO:0016607[nuclear speck] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0071894[histone H2B conserved C-terminal lysine ubiquitination] GO:1904263[positive regulation of TORC1 signaling]
Q9BTA9 [Direct mapping] WW domain-containing adapter protein with coiled-coil
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0000993[RNA polymerase II complex binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005681[spliceosomal complex] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0010390[histone monoubiquitination] GO:0010506[regulation of autophagy] GO:0016239[positive regulation of macroautophagy] GO:0016607[nuclear speck] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0071894[histone H2B conserved C-terminal lysine ubiquitination] GO:1904263[positive regulation of TORC1 signaling]
A0A0A0MRT2 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Q9BTA9 [Direct mapping] WW domain-containing adapter protein with coiled-coil
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0000993[RNA polymerase II complex binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0010390[histone monoubiquitination] GO:0010506[regulation of autophagy] GO:0016239[positive regulation of macroautophagy] GO:0016607[nuclear speck] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0071894[histone H2B conserved C-terminal lysine ubiquitination] GO:1904263[positive regulation of TORC1 signaling]
A0A0A0MSR1 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Phobius predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Q9BTA9 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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C9JVK6 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000993[RNA polymerase II complex binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0010390[histone monoubiquitination] GO:0010506[regulation of autophagy] GO:0016239[positive regulation of macroautophagy] GO:0016607[nuclear speck] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0071894[histone H2B conserved C-terminal lysine ubiquitination] GO:1904263[positive regulation of TORC1 signaling]
C9JMU2 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
E9PMZ7 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
A0A494C0B7 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
A0A494C0C1 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
A0A494C0S5 [Direct mapping] WW domain-containing adapter protein with coiled-coil
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Q9BTA9 [Direct mapping] WW domain-containing adapter protein with coiled-coil
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0000993[RNA polymerase II complex binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0010390[histone monoubiquitination] GO:0010506[regulation of autophagy] GO:0016239[positive regulation of macroautophagy] GO:0016607[nuclear speck] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0071894[histone H2B conserved C-terminal lysine ubiquitination] GO:1904263[positive regulation of TORC1 signaling]
Q9BTA9 [Direct mapping] WW domain-containing adapter protein with coiled-coil
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0000993[RNA polymerase II complex binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0010390[histone monoubiquitination] GO:0010506[regulation of autophagy] GO:0016239[positive regulation of macroautophagy] GO:0016607[nuclear speck] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0071894[histone H2B conserved C-terminal lysine ubiquitination] GO:1904263[positive regulation of TORC1 signaling]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
