Aliases for POLR1D Gene
External Ids for POLR1D Gene
Previous GeneCards Identifiers for POLR1D Gene
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]
GeneCards Summary for POLR1D Gene
POLR1D (RNA Polymerase I Subunit D) is a Protein Coding gene. Diseases associated with POLR1D include Treacher Collins Syndrome 2 and Treacher Collins Syndrome 1. Among its related pathways are RNA Polymerase III Transcription Initiation and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include protein dimerization activity and RNA polymerase I activity.
UniProtKB/Swiss-Prot for POLR1D Gene
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.