POLR3K
entrez
51728
canonical
uniprot
Q9Y2Y1
canonical
ensembl
ENSG00000161980
resolver
ensp
ENSP00000293860
resolver
enst
ENST00000293860
resolver
genesymbol
POLR3K
resolver
genesymbol_syn
RPC11
resolver
hgnc
HGNC:14121
resolver
uniprot
Q1W6H4
resolver
uniprot
Q96S35
resolver
uniprot_entry
RPC10_HUMAN
resolver
uniprot_sec
Q1W6H4
resolver
uniprot_sec
Q96S35
resolver
amino_acid_sequence
MLLFCPGCGNGLIVEEGQRCHRFACNTCPYVHNITRKVTNRKYPKLKEVDDVLGGAAAWENVDSTAESCPKCEHPRAYFMQLQTRSADEPMTTFYKCCNAQCGHRWRD
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 21 (HLD21) [MIM:619310]: 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. {ECO:0000269|PubMed:30584594}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Core component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:30584594, PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Can mediate Pol I proofreading of the nascent RNA transcript. Anchors into the Pol III active site to constantly monitor transcription fidelity, cleaves mis-incorporated 5'-ribonucleotides and restarts the transcription process. Once Pol III reaches the poly(dT) termination signal, can induce Pol III clamp opening and transcription termination (By similarity) (PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Pol III plays an important role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a 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 (PubMed:19609254, PubMed:19631370). {ECO:0000250|UniProtKB:Q04307, ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:20413673, ECO:0000269|PubMed:30584594, ECO:0000269|PubMed:33335104, ECO:0000269|PubMed:33558764, ECO:0000269|PubMed:33558766, ECO:0000269|PubMed:33674783, ECO:0000269|PubMed:34675218}.
uniprot
proteins
mass_dalton
12320
uniprot
proteins
protein_family
Archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family
uniprot
proteins
pubmed
10079944
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
12391170
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16728641
uniprot
proteins
pubmed
19609254
uniprot
proteins
pubmed
19631370
uniprot
proteins
pubmed
20413673
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
30584594
uniprot
proteins
pubmed
33335104
uniprot
proteins
pubmed
33558764
uniprot
proteins
pubmed
33558766
uniprot
proteins
pubmed
33674783
uniprot
proteins
pubmed
34675218
uniprot
proteins
pubmed
9869639
uniprot
proteins
sequence_length
108
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:33335104}.
uniprot
proteins