POLR3D

Description

The POLR3D (RNA polymerase III subunit D) is a protein-coding gene located on chromosome 8.

DNA-directed RNA polymerase III subunit RPC4 is an enzyme that in humans is encoded by the POLR3D gene. This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures.

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Assembles with POLR3E/RPC5 forming a subcomplex that binds the Pol III core. Enables recruitment of Pol III at transcription initiation site and drives transcription initiation from both type 2 and type 3 DNA promoters. Required for efficient transcription termination and reinitiation. Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway.

POLR3D is also known as BN51T, C53, RPC4, RPC53, TSBN51.

Associated Diseases

• endometrial cancer
• isolated asymptomatic elevation of creatine phosphokinase
• thrombocytopenia 4
• pentosuria
• platelet-type bleeding disorder 15
• thrombocytopenia 2
• bleeding disorder, platelet-type, 24
• macrothrombocytopenia, isolated, 2, autosomal dominant
• platelet-type bleeding disorder 10
• autosomal dominant macrothrombocytopenia
• DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
• thrombocytopenia 3
• cancer
• leukodystrophy