Human Gene POLR1C (ENST00000304004.7) from GENCODE V44
Description: Homo sapiens RNA polymerase I and III subunit C (POLR1C), transcript variant 2, mRNA. (from RefSeq NM_001318876) RefSeq Summary (NM_001318876): The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Gencode Transcript: ENST00000304004.7 Gencode Gene: ENSG00000171453.20 Transcript (Including UTRs) Position: hg38 chr6:43,517,089-43,529,585 Size: 12,497 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr6:43,517,110-43,529,355 Size: 12,246 Coding Exon Count: 9
ID:RPAC1_HUMAN DESCRIPTION: RecName: Full=DNA-directed RNA polymerases I and III subunit RPAC1; Short=DNA-directed RNA polymerase I subunit C; Short=RNA polymerases I and III subunit AC1; AltName: Full=AC40; AltName: Full=DNA-directed RNA polymerases I and III 40 kDa polypeptide; Short=RPA40; AltName: Full=RPA39; AltName: Full=RPC40; FUNCTION: 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 small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). SUBUNIT: Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). DISEASE: Defects in POLR1C are the cause of Treacher Collins syndrome type 3 (TCS3) [MIM:248390]. A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. SIMILARITY: Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family.
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 O15160
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003677 DNA binding GO:0003899 DNA-directed 5'-3' RNA polymerase activity GO:0005515 protein binding GO:0046983 protein dimerization activity GO:0001054 RNA polymerase I activity GO:0001056 RNA polymerase III activity
Biological Process: GO:0006351 transcription, DNA-templated GO:0006360 transcription from RNA polymerase I promoter GO:0006361 transcription initiation from RNA polymerase I promoter GO:0006363 termination of RNA polymerase I transcription GO:0006383 transcription from RNA polymerase III promoter GO:0045815 positive regulation of gene expression, epigenetic
BioCarta from NCI Cancer Genome Anatomy Project h_arfPathway - Tumor Suppressor Arf Inhibits Ribosomal Biogenesis
Reactome (by CSHL, EBI, and GO)
Protein O15160 (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-76056 Recruitment of RNA polymerase III to TFIIIB:TFIIIC:TFIIIA:Type 1 Promoter Complex R-HSA-83803 Recruitment of RNA Polymerase III to TFIIIB:SNAPc:Type 3 Promoter Complex R-HSA-83805 Recruitment of RNA Polymerase III to the TFIIIB:TFIIIC: Type 2 Promoter Complex R-HSA-113454 RNA Polymerase III Termination and release of transcribed RNA 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-76060 RNA Polymerase III Promoter Opening at Type 1 Promoters R-HSA-112150 RNA Polymerase III Promoter Opening at Type 2 Promoters R-HSA-112152 RNA Polymerase III Promoter Opening at Type 3 Promoters R-HSA-112055 RNA Polymerase III Abortive Initiation At Type 1 Open Promoters R-HSA-112153 RNA Polymerase III Simple Start Sequence Initiation At Type 1 Promoters R-HSA-112149 RNA Polymerase III Abortive Initiation At Type 2 Open Promoters R-HSA-112155 RNA Polymerase III Simple Start Sequence Initiation At Type 2 Promoters R-HSA-112054 RNA Polymerase III Abortive Initiation At Type 3 Open Promoters R-HSA-112156 RNA Polymerase III Simple Start Sequence Initiation At Type 3 Promoters R-HSA-113442 RNA Polymerase III Retractive RNase Activity at U-tract Pause Sites R-HSA-113446 Initiation of RNA Polymerase III Productive Transcription R-HSA-113449 RNA Polymerase III Transcriptional Pause at Terminator Sequence R-HSA-113451 Resumption of RNA Polymerase III Productive Transcription R-HSA-113705 RNA Polymerase III Productive Transcription 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-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter R-HSA-73980 RNA Polymerase III Transcription Termination R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation 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-73780 RNA Polymerase III Chain Elongation R-HSA-76046 RNA Polymerase III Transcription Initiation R-HSA-74158 RNA Polymerase III Transcription R-HSA-73864 RNA Polymerase I Transcription R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA 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-168249 Innate Immune System R-HSA-5250941 Negative epigenetic regulation of rRNA expression R-HSA-168256 Immune System
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