Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.7.7.6 (
RNA polymerase
)
34,946
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Full-length copies of cDNA of the
hRPC11
gene encoding the smallest specific subunit of nuclear
RNA polymerase III
were identified among human transcripts with the use of the RT-PCR technique. The cloning of the first orthologue of the subunit
RPC11
from a multicellular organism and the comparison of subunit
hRPC11
of Homo sapiens (108 aa; M(r), 12.3 kDa; pI 8.05) deduced from the cDNA primary structure with the homologous components of
RNA polymerase III
from Saccharomyces cerevisiae and Schizosaccharomyces pombe revealed the most important functional domains: a Zn-binding motif of the classic type (CxxCx16-17CxxC) at the N-terminal region, and two extended regions of homology (KEVDDVLGG and RSADEPM) in the central and C-terminal parts of the molecule, respectively. The C-terminus of the
RPC11
subunits is highly homologous to the unique zinc ribbon of the elongation factor TFIIS, which suggests a role for this subunit in the elongation or termination of RNA synthesis.
...
PMID:[Molecular identification and characteristics of hRPC11, the smallest specific subunit of human RNA polymerase III]. 1007 44
RNA polymerase III
(Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and
POLR3K
) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental disorders. In this report, we describe three individuals with biallelic variants in POLR3GL, a gene encoding a Pol III subunit that has not been associated with disease before. Using whole exome sequencing in a monozygotic twin and an unrelated individual, we detected homozygous and compound heterozygous POLR3GL splice acceptor site variants. RNA sequencing confirmed the loss of full-length POLR3GL RNA transcripts in blood samples of the individuals. The phenotypes of the described individuals are mainly characterized by axial endosteal hyperostosis, oligodontia, short stature, and mild facial dysmorphisms. These features largely fit within the spectrum of phenotypes caused by previously described biallelic variants in POLR3A, POLR3B, POLR1C, and
POLR3K
. These findings further expand the spectrum of POLR3-related disorders and implicate that POLR3GL should be included in genetic testing if such disorders are suspected.
...
PMID:Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. 3108 5
