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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
X
Cytoband
p11.23
Chromosome location (bp)
48890197 - 48903402
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development 1,2,3,4,5. Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species 6,7,8,9. May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery 10. May be involved in ATXN1 mutant-induced cell death 11. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit 12. Involved in the assembly of cytoplasmic stress granule, possibly by participating in the transport of neuronal RNA granules 13. Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol 14. Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production 15....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 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.
O60828 [Direct mapping] Polyglutamine-binding protein 1
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A0A0S2Z4V5 [Target identity:100%; Query identity:100%] Polyglutamine binding protein 1 isoform 1; Polyglutamine binding protein 1, isoform CRA_c
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O60828 [Direct mapping] Polyglutamine-binding protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O60828 [Direct mapping] Polyglutamine-binding protein 1
Show all
A0A0S2Z4V5 [Target identity:100%; Query identity:100%] Polyglutamine binding protein 1 isoform 1; Polyglutamine binding protein 1, isoform CRA_c
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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)
O60828 [Direct mapping] Polyglutamine-binding protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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)
O60828 [Direct mapping] Polyglutamine-binding protein 1
Show all
A0A0S2Z4V5 [Target identity:100%; Query identity:100%] Polyglutamine binding protein 1 isoform 1; Polyglutamine binding protein 1, isoform CRA_c
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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)
O60828 [Direct mapping] Polyglutamine-binding protein 1
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A0A5H1ZRR1 [Direct mapping] Polyglutamine-binding protein 1 A0A0S2Z4V5 [Target identity:100%; Query identity:100%] Polyglutamine binding protein 1 isoform 1; Polyglutamine binding protein 1, isoform CRA_c
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O60828 [Direct mapping] Polyglutamine-binding protein 1
Show all
A0A0S2Z4V5 [Target identity:100%; Query identity:100%] Polyglutamine binding protein 1 isoform 1; Polyglutamine binding protein 1, isoform CRA_c
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0000380[alternative mRNA splicing, via spliceosome] GO:0002218[activation of innate immune response] GO:0002230[positive regulation of defense response to virus by host] GO:0002376[immune system process] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006397[mRNA processing] GO:0008380[RNA splicing] GO:0010494[cytoplasmic stress granule] GO:0016604[nuclear body] GO:0016607[nuclear speck] GO:0031175[neuron projection development] GO:0032481[positive regulation of type I interferon production] GO:0043021[ribonucleoprotein complex binding] GO:0043484[regulation of RNA splicing] GO:0045087[innate immune response] GO:0045893[positive regulation of DNA-templated transcription] GO:0048814[regulation of dendrite morphogenesis] GO:0051607[defense response to virus] GO:0071360[cellular response to exogenous dsRNA] GO:0071598[neuronal ribonucleoprotein granule]
H7C053 [Direct mapping] Polyglutamine-binding protein 1
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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)
O60828 [Direct mapping] Polyglutamine-binding protein 1
Show all
A0A0S2Z4V5 [Target identity:100%; Query identity:100%] Polyglutamine binding protein 1 isoform 1; Polyglutamine binding protein 1, isoform CRA_c
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
