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

    Gene ID: 55703, updated on 23-Nov-2023

    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; AllianceGenome:HGNC:30348
    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; CMT1I; 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
    NEW
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    Genomic context

    See POLR3B in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106357748..106510198)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106321061..106473832)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (106751526..106903976)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106696289-106697174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4816 Neighboring gene RNA, U7 small nuclear 94 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr12:106725081-106725582 Neighboring gene t-complex 11 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791431-106791932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791933-106792432 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106838256-106838461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106870783-106871355 Neighboring gene NANOG hESC enhancer GRCh37_chr12:106884667-106885244 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106887966-106888130 Neighboring gene uncharacterized LOC100287944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106929421-106929920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106934851-106935440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106944957-106945458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106974861-106975743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106977232-106977816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106979571-106980156 Neighboring gene Sharpr-MPRA regulatory region 8958 Neighboring gene Sharpr-MPRA regulatory region 7289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:107038213-107038714 Neighboring gene regulatory factor X4 Neighboring gene uncharacterized LOC100505978 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:107104586-107105785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:107167609-107168160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6949 Neighboring gene RIC8 guanine nucleotide exchange factor B Neighboring gene uncharacterized LOC105369961 Neighboring gene NANOG hESC enhancer GRCh37_chr12:107270199-107270748

    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

    EBI 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.
    EBI GWAS Catalog
    Genome-wide association study of Tourette's syndrome.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS 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

    Clone Names

    • FLJ10388, DKFZp686B10117

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to RNA polymerase III activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ribonucleoside binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription by RNA polymerase III IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase III complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of RNA polymerase III complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in 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
    XP_054228500.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001160708.2NP_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
      Consensus CDS
      CCDS53824.1
      UniProtKB/TrEMBL
      Q7Z3R8
      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
      A8K6H0, B3KV73, F5H1E6, Q9NW08, Q9NW59
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      106357748..106510198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019621.3XP_016875110.1  DNA-directed RNA polymerase III subunit RPC2 isoform X1

      UniProtKB/TrEMBL
      Q7Z3R8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      106321061..106473832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372525.1XP_054228500.1  DNA-directed RNA polymerase III subunit RPC2 isoform X1

      UniProtKB/TrEMBL
      Q7Z3R8