POLR1C
entrez
9533
canonical
uniprot
O15160
canonical
ensembl
ENSG00000171453
resolver
ensp
ENSP00000307212
resolver
ensp
ENSP00000495521
resolver
ensp
ENSP00000496018
resolver
ensp
ENSP00000496044
resolver
enst
ENST00000643341
resolver
enst
ENST00000646700
resolver
genesymbol
POLR1C
resolver
genesymbol_syn
POLR1E
resolver
hgnc
HGNC:20194
resolver
uniprot
A0A2R8YEZ4
resolver
uniprot
O75395
resolver
uniprot
Q5JTE3
resolver
uniprot_entry
A0A2R8YEZ4_HUMAN
resolver
uniprot_entry
RPAC1_HUMAN
resolver
uniprot_sec
O75395
resolver
uniprot_sec
Q5JTE3
resolver
amino_acid_sequence
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRILLAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPNELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDITLLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYIFSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD
uniprot
proteins
disease_involvement
DISEASE: Treacher Collins syndrome 3 (TCS3) [MIM:248390]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. {ECO:0000269|PubMed:21131976, ECO:0000269|PubMed:26151409}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]: An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism. {ECO:0000269|PubMed:26151409}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. POLR1C/RPAC1 is part of the polymerase core and may function as a clamp element that moves to open and close the cleft. {ECO:0000250|UniProtKB:P07703, ECO:0000269|PubMed:20413673, ECO:0000269|PubMed:34671025, ECO:0000269|PubMed:34887565, ECO:0000269|PubMed:36271492, ECO:0000305|PubMed:26151409}.
uniprot
proteins
mass_dalton
39250
uniprot
proteins
protein_family
Archaeal Rpo3/eukaryotic RPB3 RNA polymerase subunit family
uniprot
proteins
pubmed
12391170
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20413673
uniprot
proteins
pubmed
21131976
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26151409
uniprot
proteins
pubmed
33335104
uniprot
proteins
pubmed
33558764
uniprot
proteins
pubmed
33558766
uniprot
proteins
pubmed
33674783
uniprot
proteins
pubmed
34671025
uniprot
proteins
pubmed
34675218
uniprot
proteins
pubmed
34887565
uniprot
proteins
pubmed
36271492
uniprot
proteins
pubmed
9540830
uniprot
proteins
pubmed
9653160
uniprot
proteins
sequence_length
346
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26151409, ECO:0000269|PubMed:33335104}. Nucleus, nucleolus {ECO:0000269|PubMed:34887565}. Cytoplasm, cytosol {ECO:0000269|PubMed:33335104}.
uniprot
proteins