Homo sapiens Protein: POLR1D
Summary
InnateDB Protein IDBP-230057.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POLR1D
Protein Name polymerase (RNA) I polypeptide D, 16kDa
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000382603
InnateDB Gene IDBG-19480 (POLR1D)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Nucleus {ECO:0000250}.
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.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
Experimentally validated
Total 27 [view]
Protein-Protein 27 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001054 RNA polymerase I activity
GO:0001056 RNA polymerase III activity
GO:0003677 DNA binding
GO:0046983 protein dimerization 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:0006362 transcription elongation from RNA polymerase I promoter
GO:0006363 termination of RNA polymerase I transcription
GO:0006383 transcription from RNA polymerase III promoter
GO:0006385 transcription elongation from RNA polymerase III promoter
GO:0006386 termination of RNA polymerase III transcription
GO:0010467 gene expression
GO:0032481 positive regulation of type I interferon production
GO:0045087 innate immune response
Cellular Component
GO:0005654 nucleoplasm
GO:0005666 DNA-directed RNA polymerase III complex
GO:0005736 DNA-directed RNA polymerase I complex
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR009025 DNA-directed RNA polymerase, RBP11-like dimerisation domain
PFAM PF01193
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y2S0
PhosphoSite PhosphoSite-Q9Y2S0
TrEMBL
UniProt Splice Variant
Entrez Gene 51082
UniGene Hs.507584
RefSeq NP_057056
HUGO HGNC:20422
OMIM 613715
CCDS CCDS9325
HPRD 17877
IMGT
EMBL AF077044 AK311833 AL136439 BC000889 BC015319 BC018528 CH471075
GenPept AAD27777 AAH00889 AAH15319 AAH18528 BAG34775 CAI16933 CAI16934 EAX08416