POLR3GL
entrez
84265
canonical
uniprot
Q9BT43
canonical
ensembl
ENSG00000121851
resolver
ensp
ENSP00000358319
resolver
ensp
ENSP00000358320
resolver
ensp
ENSP00000525621
resolver
enst
ENST00000369313
resolver
enst
ENST00000369314
resolver
enst
ENST00000855562
resolver
genesymbol
POLR3GL
resolver
hgnc
HGNC:28466
resolver
uniprot
A6NGX6
resolver
uniprot
B1MVG5
resolver
uniprot_entry
A6NGX6_HUMAN
resolver
uniprot_entry
RPC7L_HUMAN
resolver
uniprot_sec
B1MVG5
resolver
amino_acid_sequence
MASRGGGRGRGRGQLTFNVEAVGIGKGDALPPPTLQPSPLFPPLEFRPVPLPSGEEGEYVLALKQELRGAMRQLPYFIRPAVPKRDVERYSDKYQMSGPIDNAIDWNPDWRRLPRELKIRVRKLQKERITILLPKRPPKTTEDKEETIQKLETLEKKEEEVTSEEDEEKEEEEEKEEEEEEEYDEEEHEEETDYIMSYFDNGEDFGGDSDDNMDEAIY
uniprot
proteins
disease_involvement
DISEASE: Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM) [MIM:619234]: An autosomal recessive disorder with phenotypic variability. The main clinical features include endosteal hyperostosis, short stature, oligodontia, mild facial dysmorphisms, and delayed motor development. Some patients show progeroid features. {ECO:0000269|PubMed:31089205, ECO:0000269|PubMed:31695177}. Note=The disease may be 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. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. {ECO:0000269|PubMed:20154270, ECO:0000269|PubMed:35637192}.
uniprot
proteins
mass_dalton
25334
uniprot
proteins
protein_family
Eukaryotic RPC7 RNA polymerase subunit family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20154270
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21358628
uniprot
proteins
pubmed
24107381
uniprot
proteins
pubmed
26394183
uniprot
proteins
pubmed
28494942
uniprot
proteins
pubmed
31089205
uniprot
proteins
pubmed
31695177
uniprot
proteins
pubmed
35637192
uniprot
proteins
sequence_length
218
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20154270}.
uniprot
proteins