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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
19
Cytoband
q13.33
Chromosome location (bp)
49446298 - 49453497
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 the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles 1. Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription 2,3. Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 4. Positively regulates the assembly and activity of the mTORC1 complex 5....show less
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
Enables several functions, including RNA polymerase I core promoter sequence-specific DNA binding activity; enzyme binding activity; and phosphoprotein binding activity. Involved in several processes, including box C/D snoRNP assembly; positive regulation of signal transduction; and regulation of cellular protein metabolic process. Located in cytoplasm and nucleolus. Part of R2TP complex and pre-snoRNP complex. [provided by Alliance of Genome Resources, Apr 2022]...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.
Q9NWS0 [Direct mapping] PIH1 domain-containing protein 1
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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:0000492[box C/D snoRNP assembly] GO:0001164[RNA polymerase I core promoter sequence-specific DNA binding] GO:0001188[RNA polymerase I preinitiation complex assembly] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0006338[chromatin remodeling] GO:0006364[rRNA processing] GO:0019901[protein kinase binding] GO:0030855[epithelial cell differentiation] GO:0031334[positive regulation of protein-containing complex assembly] GO:0042393[histone binding] GO:0048254[snoRNA localization] GO:0050821[protein stabilization] GO:0051117[ATPase binding] GO:0051219[phosphoprotein binding] GO:0051569[regulation of histone H3-K4 methylation] GO:0070761[pre-snoRNP complex] GO:0071169[establishment of protein localization to chromatin] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0090240[positive regulation of histone H4 acetylation] GO:0097255[R2TP complex] GO:1900110[negative regulation of histone H3-K9 dimethylation] GO:1900113[negative regulation of histone H3-K9 trimethylation] GO:1901838[positive regulation of transcription of nucleolar large rRNA by RNA polymerase I] GO:1902661[positive regulation of glucose mediated signaling pathway] GO:1904263[positive regulation of TORC1 signaling] GO:1905669[TORC1 complex assembly] GO:1990062[RPAP3/R2TP/prefoldin-like complex] GO:1990904[ribonucleoprotein complex] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000619[negative regulation of histone H4-K16 acetylation] GO:2001268[negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway]
Q9NWS0 [Direct mapping] PIH1 domain-containing protein 1
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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:0000492[box C/D snoRNP assembly] GO:0001164[RNA polymerase I core promoter sequence-specific DNA binding] GO:0001188[RNA polymerase I preinitiation complex assembly] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0006338[chromatin remodeling] GO:0006364[rRNA processing] GO:0019901[protein kinase binding] GO:0030855[epithelial cell differentiation] GO:0031334[positive regulation of protein-containing complex assembly] GO:0042393[histone binding] GO:0048254[snoRNA localization] GO:0050821[protein stabilization] GO:0051117[ATPase binding] GO:0051219[phosphoprotein binding] GO:0051569[regulation of histone H3-K4 methylation] GO:0070761[pre-snoRNP complex] GO:0071169[establishment of protein localization to chromatin] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0090240[positive regulation of histone H4 acetylation] GO:0097255[R2TP complex] GO:1900110[negative regulation of histone H3-K9 dimethylation] GO:1900113[negative regulation of histone H3-K9 trimethylation] GO:1901838[positive regulation of transcription of nucleolar large rRNA by RNA polymerase I] GO:1902661[positive regulation of glucose mediated signaling pathway] GO:1904263[positive regulation of TORC1 signaling] GO:1905669[TORC1 complex assembly] GO:1990062[RPAP3/R2TP/prefoldin-like complex] GO:1990904[ribonucleoprotein complex] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000619[negative regulation of histone H4-K16 acetylation] GO:2001268[negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway]
M0QXD5 [Direct mapping] PIH1 domain-containing protein 1
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MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
