InnateDB Protein
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IDBP-230055.6
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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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POLR1D
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Protein Name
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polymerase (RNA) I polypeptide D, 16kDa
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000382604
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InnateDB Gene
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IDBG-19480 (POLR1D)
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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 core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively.
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Subcellular Localization |
Nucleus {ECO:0000250}.
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Disease Associations |
Treacher Collins syndrome 2 (TCS2) [MIM:613717]: 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 27 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
27
[view]
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Protein-Protein |
27
[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: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 |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y2S0
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PhosphoSite |
PhosphoSite-Q9Y2S0
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TrEMBL |
Q7Z776
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UniProt Splice Variant |
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Entrez Gene |
51082
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UniGene |
Hs.507584
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RefSeq |
NP_689918
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HUGO |
HGNC:20422
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OMIM |
613715
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CCDS |
CCDS9324
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HPRD |
17877
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IMGT |
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EMBL |
AF077044
AK311833
AL136439
BC000889
BC006972
BC015319
BC018528
CH471075
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GenPept |
AAD27777
AAH00889
AAH06972
AAH15319
AAH18528
BAG34775
CAI16933
CAI16934
EAX08416
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