Human Gene POLR1A (ENST00000263857.11) from GENCODE V44
Description: Homo sapiens RNA polymerase I subunit A (POLR1A), mRNA. (from RefSeq NM_015425) RefSeq Summary (NM_015425): The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000263857.11 Gencode Gene: ENSG00000068654.17 Transcript (Including UTRs) Position: hg38 chr2:86,020,216-86,105,886 Size: 85,671 Total Exon Count: 34 Strand: - Coding Region Position: hg38 chr2:86,027,423-86,105,776 Size: 78,354 Coding Exon Count: 34
ID:RPA1_HUMAN DESCRIPTION: RecName: Full=DNA-directed RNA polymerase I subunit RPA1; Short=RNA polymerase I subunit A1; EC=2.7.7.6; AltName: Full=A190; AltName: Full=DNA-directed RNA polymerase I largest subunit; AltName: Full=DNA-directed RNA polymerase I subunit A; AltName: Full=RNA polymerase I 194 kDa subunit; Short=RPA194; FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). CATALYTIC ACTIVITY: Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1). SUBUNIT: Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits. Interacts with MYO1C. Interacts with ERBB2 (By similarity). INTERACTION: P04626:ERBB2; NbExp=16; IntAct=EBI-359472, EBI-641062; SUBCELLULAR LOCATION: Nucleus, nucleolus (By similarity). SIMILARITY: Belongs to the RNA polymerase beta' chain family. SEQUENCE CAUTION: Sequence=AAC99959.1; Type=Frameshift; Positions=1114, 1469; Sequence=AAD09356.1; Type=Frameshift; Positions=1114;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95602
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006351 transcription, DNA-templated GO:0006361 transcription initiation from RNA polymerase I promoter GO:0006363 termination of RNA polymerase I transcription GO:0045815 positive regulation of gene expression, epigenetic GO:1904750 negative regulation of protein localization to nucleolus
BioCarta from NCI Cancer Genome Anatomy Project h_arfPathway - Tumor Suppressor Arf Inhibits Ribosomal Biogenesis
Reactome (by CSHL, EBI, and GO)
Protein O95602 (Reactome details) participates in the following event(s):
R-HSA-73865 Assembly of RNA Polymerase I Holoenzyme (human) R-HSA-73757 Binding of RRN3 to RNA Polymerase I R-HSA-5250947 B-WICH complex binds rDNA promoter R-HSA-73758 Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box R-HSA-73769 Loss of Rrn3 from RNA Polymerase I promoter escape complex R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box R-HSA-5250930 B-WICH recruits histone acetyltransferases R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box R-HSA-74986 Elongation of pre-rRNA transcript R-HSA-427366 Transcription of intergenic spacer of the rRNA gene R-HSA-5250938 B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9 R-HSA-73762 RNA Polymerase I Transcription Initiation R-HSA-5250924 B-WICH complex positively regulates rRNA expression R-HSA-73854 RNA Polymerase I Promoter Clearance R-HSA-73863 RNA Polymerase I Transcription Termination R-HSA-73772 RNA Polymerase I Promoter Escape R-HSA-5250913 Positive epigenetic regulation of rRNA expression R-HSA-73864 RNA Polymerase I Transcription R-HSA-73777 RNA Polymerase I Chain Elongation R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-212165 Epigenetic regulation of gene expression R-HSA-74160 Gene expression (Transcription) R-HSA-5250941 Negative epigenetic regulation of rRNA expression
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