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POLR2J3 RNA polymerase II subunit J3 [ Homo sapiens (human) ]

Gene ID: 548644, updated on 11-Apr-2024

Summary

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Official Symbol
POLR2J3provided by HGNC
Official Full Name
RNA polymerase II subunit J3provided by HGNC
Primary source
HGNC:HGNC:33853
See related
Ensembl:ENSG00000285437 AllianceGenome:HGNC:33853
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
RPB11b2
Summary
This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in esophagus (RPKM 51.4), thyroid (RPKM 33.4) and 25 other tissues See more
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Genomic context

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Location:
7q22.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102566966..102572583, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (103884489..103890107, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102207413..102213030, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene POLR2J3-UPK3BL2 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102179485-102180312 Neighboring gene uroplakin 3B like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102184221-102184721 Neighboring gene speedy/RINGO cell cycle regulator family member E2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:102212169-102212830 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:102213197-102213370 Neighboring gene uncharacterized LOC124901712 Neighboring gene RAS p21 protein activator 4 Neighboring gene uncharacterized LOC124901714

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human PMS2 gene family: origin, molecular evolution, and biological implications. Shpakovskii DG, et al. Dokl Biochem Biophys, 2006 May-Jun. PMID 16913423
  2. Distinct regions of RPB11 are required for heterodimerization with RPB3 in human and yeast RNA polymerase II. Benga WJ, et al. Nucleic Acids Res, 2005. PMID 15987790, Free PMC Article
  3. [New genes on human chromosome 7: bioinformatic analysis of a gene cluster from the POLR2J family]. Shpakovskiĭ DG, et al. Bioorg Khim, 2004 Nov-Dec. PMID 15586814
  4. A human RNA polymerase II subunit is encoded by a recently generated multigene family. Grandemange S, et al. BMC Mol Biol, 2001. PMID 11747469, Free PMC Article
  5. The thymocyte-specific MAR binding protein, SATB1, interacts in vitro with a novel variant of DNA-directed RNA polymerase II, subunit 11. Durrin LK, et al. Genomics, 2002 Jun. PMID 12036295

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough POLR2J3-UPK3BL2

Readthrough gene: POLR2J3-UPK3BL2, Included gene: UPK3BL2

Homology

Clone Names

  • MGC54043

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to RNA polymerase II activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II, core complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
DNA-directed RNA polymerase II subunit RPB11-b2
Names
DNA-directed RNA polymerase II subunit 11
DNA-directed RNA polymerase II subunit J3
RNA polymerase II subunit B11-b2
polymerase (RNA) II (DNA directed) polypeptide J3
polymerase (RNA) II subunit J3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001097615.3 → NP_001091084.2  DNA-directed RNA polymerase II subunit RPB11-b2

    See identical proteins and their annotated locations for NP_001091084.2

    Status: REVIEWED

    Source sequence(s)
    AC093668
    Consensus CDS
    CCDS47673.1
    UniProtKB/Swiss-Prot
    A6NKA1, Q9H1A7
    UniProtKB/TrEMBL
    A0A0B4J2F8
    Related
    ENSP00000483328.1, ENST00000621093.5
    Conserved Domains (1) summary
    cd06926
    Location:14 → 104
    RNAP_II_RPB11; RPB11 subunit of Eukaryotic RNA polymerase II

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    102566966..102572583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    103884489..103890107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001015884.1: Suppressed sequence

    Description
    NM_001015884.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, and it may be a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H1A7.2 GenPept UniProtKB/Swiss-Prot:Q9H1A7

Gene LinkOut

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