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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 Metabolic proteins RNA polymerase related proteins
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
13
Cytoband
q12.2
Chromosome location (bp)
27620742 - 27744237
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. [P0DPB6] ...show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription [P0DPB6]
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]...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.
P0DPB6 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Disease related genes Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
A0A0R4J2F3 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
A0A087X0U2 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2; HCG2020048, isoform CRA_c
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
A0A087WTY1 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Q7Z776 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2; POLR1D protein
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
A0A1B0GUZ5 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
A0A087WTY1 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
A0A087WTY1 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
A0A8I5KX40 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
A0A8I5QL02 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
A0A087WTY1 [Direct mapping] DNA-directed RNA polymerases I and III subunit RPAC2
Show all
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RNA polymerase related proteins Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
