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POLR3B RNA polymerase III subunit B [ Homo sapiens (human) ]

Gene ID: 55703, updated on 5-Apr-2020

Summary

Official Symbol
POLR3Bprovided by HGNC
Official Full Name
RNA polymerase III subunit Bprovided by HGNC
Primary source
HGNC:HGNC:30348
See related
Ensembl:ENSG00000013503 MIM:614366
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C128; HLD8; RPC2; INMAP
Summary
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in esophagus (RPKM 2.4), thyroid (RPKM 2.3) and 25 other tissues See more
Orthologs

Genomic context

See POLR3B in Genome Data Viewer
Location:
12q23.3
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (106357712..106510198)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (106751436..106903976)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12855 Neighboring gene t-complex 11 like 2 Neighboring gene uncharacterized LOC100287944 Neighboring gene regulatory factor X4 Neighboring gene uncharacterized LOC100505978 Neighboring gene RIC8 guanine nucleotide exchange factor B Neighboring gene uncharacterized LOC105369961

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
NHGRI GWA Catalog
Genome-wide association study of Tourette's syndrome.
NHGRI GWA Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the transcription by RNA polymerase III of co-transfected or endogenous cellular Alu-repeated sequences by activating transcription factor TFIIIC PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10388, DKFZp686B10117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to DNA-directed 5'-3' RNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
ribonucleoside binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase III complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
DNA-directed RNA polymerase III subunit RPC2
Names
DNA-directed RNA polymerase III 127.6 kDa polypeptide
DNA-directed RNA polymerase III subunit B
RNA polymerase III subunit C2
interphase nucleus and mitotic apparatus associated protein
polymerase (RNA) III (DNA directed) polypeptide B
polymerase (RNA) III subunit B
NP_001154180.1
NP_060552.4
XP_016875110.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031837.1 RefSeqGene

    Range
    5091..157541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001160708.1NP_001154180.1  DNA-directed RNA polymerase III subunit RPC2 isoform 2

    See identical proteins and their annotated locations for NP_001154180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an in-frame downstream AUG, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC078992, AK122713, BC033724, DB094040
    Consensus CDS
    CCDS53824.1
    UniProtKB/Swiss-Prot
    Q9NW08
    Related
    ENSP00000445721.1, ENST00000539066.5
    Conserved Domains (3) summary
    cd00653
    Location:11069
    RNA_pol_B_RPB2; RNA polymerase beta subunit. RNA polymerases catalyse the DNA dependent polymerization of RNA. Prokaryotes contain a single RNA polymerase compared to three in eukaryotes (not including mitochondrial. and chloroplast polymerases). Each RNA polymerase ...
    pfam04566
    Location:481542
    RNA_pol_Rpb2_4; RNA polymerase Rpb2, domain 4
    pfam04567
    Location:563603
    RNA_pol_Rpb2_5; RNA polymerase Rpb2, domain 5
  2. NM_018082.6NP_060552.4  DNA-directed RNA polymerase III subunit RPC2 isoform 1

    See identical proteins and their annotated locations for NP_060552.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC033724, BX537447
    Consensus CDS
    CCDS9105.1
    UniProtKB/Swiss-Prot
    Q9NW08
    UniProtKB/TrEMBL
    Q7Z3R8
    Related
    ENSP00000228347.4, ENST00000228347.9
    Conserved Domains (3) summary
    cd00653
    Location:391127
    RNA_pol_B_RPB2; RNA polymerase beta subunit. RNA polymerases catalyse the DNA dependent polymerization of RNA. Prokaryotes contain a single RNA polymerase compared to three in eukaryotes (not including mitochondrial. and chloroplast polymerases). Each RNA polymerase ...
    pfam04566
    Location:539600
    RNA_pol_Rpb2_4; RNA polymerase Rpb2, domain 4
    pfam04567
    Location:621661
    RNA_pol_Rpb2_5; RNA polymerase Rpb2, domain 5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    106357712..106510198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019621.2XP_016875110.1  DNA-directed RNA polymerase III subunit RPC2 isoform X1

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