POLR1D


Summary: The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
RNA polymerase I and III subunit DMIM:613715Ensembl:ENSG00000186184HGNC:HGNC:20422PA13491452713q12.2

GO terms in POLR1D


Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0005736DNA-directed RNA polymerase I complex
BPIEAGO:0006351transcription, DNA-templated
MFIEAGO:0003677DNA binding
MFIEAGO:0003899DNA-directed 5'-3' RNA polymerase activity
MFIPIGO:0005515protein binding
MFIEAGO:0046983protein dimerization activity

Gene expression in normal tissue: POLR1D

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in POLR1D


DatabasePathway IDPathway Des.
biocartaarfpathwaytumor suppressor arf inhibits ribosomal biogenesis
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-1834949Cytosolic sensors of pathogen-associated DNA
reactomeR-HSA-212165Epigenetic regulation of gene expression
reactomeR-HSA-212165Epigenetic regulation of gene expression
reactomeR-HSA-427413NoRC negatively regulates rRNA expression
reactomeR-HSA-5250913Positive epigenetic regulation of rRNA expression
reactomeR-HSA-5250924B-WICH complex positively regulates rRNA expression
reactomeR-HSA-5250941Negative epigenetic regulation of rRNA expression
reactomeR-HSA-73762RNA Polymerase I Transcription Initiation
reactomeR-HSA-73762RNA Polymerase I Transcription Initiation
reactomeR-HSA-73772RNA Polymerase I Promoter Escape
reactomeR-HSA-73777RNA Polymerase I Chain Elongation
reactomeR-HSA-73780RNA Polymerase III Chain Elongation
reactomeR-HSA-73854RNA Polymerase I Promoter Clearance
reactomeR-HSA-73854RNA Polymerase I Promoter Clearance
reactomeR-HSA-73863RNA Polymerase I Transcription Termination
reactomeR-HSA-73864RNA Polymerase I Transcription
reactomeR-HSA-73864RNA Polymerase I Transcription
reactomeR-HSA-73980RNA Polymerase III Transcription Termination
reactomeR-HSA-74158RNA Polymerase III Transcription
reactomeR-HSA-74158RNA Polymerase III Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-749476RNA Polymerase III Abortive And Retractive Initiation
reactomeR-HSA-76046RNA Polymerase III Transcription Initiation
reactomeR-HSA-76046RNA Polymerase III Transcription Initiation
reactomeR-HSA-76061RNA Polymerase III Transcription Initiation From Type 1 Promoter
reactomeR-HSA-76061RNA Polymerase III Transcription Initiation From Type 1 Promoter
reactomeR-HSA-76066RNA Polymerase III Transcription Initiation From Type 2 Promoter
reactomeR-HSA-76066RNA Polymerase III Transcription Initiation From Type 2 Promoter
reactomeR-HSA-76071RNA Polymerase III Transcription Initiation From Type 3 Promoter
reactomeR-HSA-76071RNA Polymerase III Transcription Initiation From Type 3 Promoter
wikipathwaysWP4022Pyrimidine metabolism
wikipathwaysWP405Eukaryotic Transcription Initiation
netpathPathway_TNFalphaTNFalpha
kegghsa00230Purine metabolism - Homo sapiens (human)
kegghsa00240Pyrimidine metabolism - Homo sapiens (human)
kegghsa03020RNA polymerase - Homo sapiens (human)
kegghsa04623Cytosolic DNA-sensing pathway - Homo sapiens (human)
kegghsa05169Epstein-Barr virus infection - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD68Paclitaxel1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in POLR1D

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