POLR3K

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. [provided by RefSeq]

POLR3K

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:12391170).
Component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs (PubMed:12391170, PubMed:30584594).
Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses (PubMed:19631370, PubMed:19609254).
Acts as nuclear and cytosolic DNA sensor involved in innate immune response (PubMed:19631370, PubMed:19609254).
Can sense non-self dsDNA that serves as template for transcription into dsRNA (PubMed:19631370, PubMed:19609254).
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 (PubMed:19631370, PubMed:19609254).

Defense response to virusIEA:UniProtKB-KW
Innate immune responseIEA:UniProtKB-KW
Termination of RNA polymerase III transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Transcription by RNA polymerase IIIManual Assertion Based On ExperimentTAS:ProtInc
tRNA 3'-trailer cleavageIEA:InterPro

Nucleus, nucleolus

Leukodystrophy, hypomyelinating, 21 (HLD21):
An autosomal recessive neurodegenerative disorder characterized by global developmental delay, loss of motor, speech and cognitive milestones in the first decades of life, and diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum observed on brain imaging. Clinical features include nystagmus, ataxia, dystonia, and spasticity. Other more variable features are feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures.The disorder is progressive and may lead to premature death.