InnateDB Protein
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IDBP-88356.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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POLR1C
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Protein Name
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polymerase (RNA) I polypeptide C, 30kDa
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Synonyms
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RPA39; RPA40; RPA5; RPAC1; TCS3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000307212
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InnateDB Gene
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IDBG-88354 (POLR1C)
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Protein Structure
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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). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000250}.
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Disease Associations |
Treacher Collins syndrome 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. {ECO:0000269PubMed:21131976}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 60 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
60
[view]
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Protein-Protein |
60
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0006351
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transcription, DNA-templated
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GO:0006360
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transcription from RNA polymerase I promoter
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GO:0006361
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transcription initiation from RNA polymerase I promoter
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GO:0006362
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transcription elongation from RNA polymerase I promoter
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GO:0006363
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termination of RNA polymerase I transcription
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GO:0006383
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transcription from RNA polymerase III promoter
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GO:0006385
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transcription elongation from RNA polymerase III promoter
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GO:0006386
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termination of RNA polymerase III transcription
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GO:0010467
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gene expression
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GO:0032481
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positive regulation of type I interferon production
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GO:0045087
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innate immune response
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Cellular Component |
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PDB ID |
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InterPro |
IPR009025
DNA-directed RNA polymerase, RBP11-like dimerisation domain
IPR011262
DNA-directed RNA polymerase, insert domain
IPR011263
DNA-directed RNA polymerase, RpoA/D/Rpb3-type
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PFAM |
PF01193
PF01000
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PRINTS |
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PIRSF |
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SMART |
SM00662
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TIGRFAMs |
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Modification |
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SwissProt |
O15160
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PhosphoSite |
PhosphoSite-O15160
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TrEMBL |
D6RDJ3
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UniProt Splice Variant |
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Entrez Gene |
9533
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UniGene |
Hs.632895
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RefSeq |
XP_005249548
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HUGO |
HGNC:20194
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OMIM |
610060
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CCDS |
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HPRD |
09661
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IMGT |
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EMBL |
AF008442
AF047441
AL355802
BC008863
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GenPept |
AAC14354
AAC39892
AAH08863
CAI42629
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