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POLR1B RNA polymerase I subunit B [ Homo sapiens (human) ]

Gene ID: 84172, updated on 13-Apr-2024

Summary

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Official Symbol
POLR1Bprovided by HGNC
Official Full Name
RNA polymerase I subunit Bprovided by HGNC
Primary source
HGNC:HGNC:20454
See related
Ensembl:ENSG00000125630 MIM:602000; AllianceGenome:HGNC:20454
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A135; RPA2; TCS4; RPA135; Rpo1-2
Summary
Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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See POLR1B in Genome Data Viewer
Location:
2q14.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112542036..112579818)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112968686..113006450)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113299613..113337395)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906067 Neighboring gene RANBP2 like and GRIP domain containing 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:113191810-113192788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11874 Neighboring gene tubulin tyrosine ligase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113286172-113286672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113286673-113287173 Neighboring gene uncharacterized LOC105373562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16393 Neighboring gene uncharacterized LOC124907870 Neighboring gene MPRA-validated peak3820 silencer Neighboring gene Sharpr-MPRA regulatory region 15338 Neighboring gene uncharacterized LOC101927330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:113341395-113342594 Neighboring gene uncharacterized LOC124907869 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 5

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. Efficient protein expression from the endogenous RNA polymerase I promoter using a human ribosomal DNA targeting vector. Wen L, et al. Biochem Biophys Res Commun, 2008 Mar 21. PMID 18194663
  2. Casein kinase 2 associates with initiation-competent RNA polymerase I and has multiple roles in ribosomal DNA transcription. Panova TB, et al. Mol Cell Biol, 2006 Aug. PMID 16880508, Free PMC Article
  3. Expression of RNA polymerase I catalytic core is influenced by RPA12. Ford BL, et al. PLoS One, 2023. PMID 37167337, Free PMC Article
  4. PTEN represses RNA Polymerase I transcription by disrupting the SL1 complex. Zhang C, et al. Mol Cell Biol, 2005 Aug. PMID 16055704, Free PMC Article
  5. Molecular recognition of agonist ligands by RXRs. Egea PF, et al. Mol Endocrinol, 2002 May. PMID 11981034

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of RNA polymerase I catalytic core is influenced by RPA12.
    Title: Expression of RNA polymerase I catalytic core is influenced by RPA12.
  2. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
    Title: POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
  3. The average FIX expression level of the rDNA recombinants was additionally enhanced to that from a strong Pol II promoter as a result of elimination of position effects.
    Title: Efficient protein expression from the endogenous RNA polymerase I promoter using a human ribosomal DNA targeting vector.
  4. PTEN represses RNA Pol I transcription through a novel mechanism that involves disruption of the SL1 complex
    Title: PTEN represses RNA Polymerase I transcription by disrupting the SL1 complex.
  5. Human Maf1 protein negatively regulates transcription by all three nuclear Pols. Changes in Maf1 expression affect Pol I-dependent transcription in human glioblastoma lines.
    Title: Mammalian Maf1 is a negative regulator of transcription by all three nuclear RNA polymerases.
  6. CK2 has the potential to regulate Pol I transcription at multiple levels, in preinitiation complex (PIC) formation, activation, and reinitiation of transcription.
    Title: Casein kinase 2 associates with initiation-competent RNA polymerase I and has multiple roles in ribosomal DNA transcription.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Treacher Collins syndrome 4
MedGen: C5394546 OMIM: 618939 GeneReviews: Treacher Collins Syndrome
Compare labs

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

Homology

Clone Names

  • FLJ10816, FLJ21921, MGC131780

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-directed 5'-3' RNA polymerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA/RNA hybrid binding IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to RNA polymerase I activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribonucleoside binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in embryo implantation IEA
Inferred from Electronic Annotation
more info
  
involved_in neural crest formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nucleologenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in rRNA transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in transcription by RNA polymerase I IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of RNA polymerase I complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RNA polymerase I complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
DNA-directed RNA polymerase I subunit RPA2
Names
DNA-directed RNA polymerase I 135 kDa polypeptide
DNA-directed RNA polymerase I 135kDa polypeptide
RNA polymerase I subunit 2
polymerase (RNA) I polypeptide B, 128kDa
polymerase (RNA) I subunit B
NP_001131076.1
NP_001269701.1
NP_001269703.1
NP_001269705.1
NP_001269706.1
NP_001269708.1
NP_001358898.1
NP_001358899.1
NP_001358900.1
NP_061887.2

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_001137604.3 → NP_001131076.1  DNA-directed RNA polymerase I subunit RPA2 isoform 2

    See identical proteins and their annotated locations for NP_001131076.1

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Consensus CDS
    CCDS46395.1
    UniProtKB/Swiss-Prot
    Q9H9Y6
    Related
    ENSP00000405358.2, ENST00000417433.6
    Conserved Domains (4) summary
    COG0085
    Location:35 → 1078
    RpoB; DNA-directed RNA polymerase, beta subunit/140 kD subunit [Transcription]
    cd00653
    Location:60 → 1077
    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 ...
    pfam04561
    Location:130 → 319
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2
    pfam06883
    Location:507 → 560
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  2. NM_001282772.2 → NP_001269701.1  DNA-directed RNA polymerase I subunit RPA2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Consensus CDS
    CCDS62988.1
    UniProtKB/Swiss-Prot
    Q9H9Y6
    Related
    ENSP00000444136.1, ENST00000541869.5
    Conserved Domains (4) summary
    COG0085
    Location:73 → 1172
    RpoB; DNA-directed RNA polymerase, beta subunit/140 kD subunit [Transcription]
    cd00653
    Location:76 → 1171
    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 ...
    pfam04561
    Location:224 → 413
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2
    pfam06883
    Location:601 → 654
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  3. NM_001282774.2 → NP_001269703.1  DNA-directed RNA polymerase I subunit RPA2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Consensus CDS
    CCDS62989.1
    UniProtKB/Swiss-Prot
    Q9H9Y6
    Related
    ENSP00000387143.3, ENST00000409894.7
    Conserved Domains (3) summary
    COG0085
    Location:35 → 951
    RpoB; DNA-directed RNA polymerase, beta subunit/140 kD subunit [Transcription]
    cd00653
    Location:38 → 950
    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 ...
    pfam04561
    Location:186 → 375
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2

  4. NM_001282776.2 → NP_001269705.1  DNA-directed RNA polymerase I subunit RPA2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Consensus CDS
    CCDS62990.1
    UniProtKB/Swiss-Prot
    Q9H9Y6
    Related
    ENSP00000437914.1, ENST00000537335.5
    Conserved Domains (3) summary
    cd00653
    Location:130 → 922
    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 ...
    pfam04563
    Location:9 → 205
    RNA_pol_Rpb2_1; RNA polymerase beta subunit
    pfam06883
    Location:352 → 405
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  5. NM_001282777.2 → NP_001269706.1  DNA-directed RNA polymerase I subunit RPA2 isoform 6

    See identical proteins and their annotated locations for NP_001269706.1

    Status: VALIDATED

    Source sequence(s)
    AC012442
    UniProtKB/TrEMBL
    B7Z1W6
    Conserved Domains (3) summary
    cd00653
    Location:1 → 994
    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 ...
    pfam04561
    Location:47 → 236
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2
    pfam06883
    Location:424 → 477
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  6. NM_001282779.2 → NP_001269708.1  DNA-directed RNA polymerase I subunit RPA2 isoform 6

    See identical proteins and their annotated locations for NP_001269708.1

    Status: VALIDATED

    Source sequence(s)
    AC012442
    UniProtKB/TrEMBL
    B7Z1W6
    Conserved Domains (3) summary
    cd00653
    Location:1 → 994
    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 ...
    pfam04561
    Location:47 → 236
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2
    pfam06883
    Location:424 → 477
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  7. NM_001371969.1 → NP_001358898.1  DNA-directed RNA polymerase I subunit RPA2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Conserved Domains (3) summary
    cd00653
    Location:38 → 1179
    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 ...
    pfam04561
    Location:186 → 375
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2
    pfam06883
    Location:563 → 662
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  8. NM_001371970.1 → NP_001358899.1  DNA-directed RNA polymerase I subunit RPA2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC012442
    UniProtKB/TrEMBL
    B7Z1W6
    Conserved Domains (3) summary
    cd00653
    Location:1 → 994
    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 ...
    pfam04561
    Location:47 → 236
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2
    pfam06883
    Location:424 → 477
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  9. NM_001371971.1 → NP_001358900.1  DNA-directed RNA polymerase I subunit RPA2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Consensus CDS
    CCDS62990.1
    Conserved Domains (3) summary
    cd00653
    Location:130 → 922
    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 ...
    pfam04563
    Location:9 → 205
    RNA_pol_Rpb2_1; RNA polymerase beta subunit
    pfam06883
    Location:352 → 405
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

  10. NM_019014.6 → NP_061887.2  DNA-directed RNA polymerase I subunit RPA2 isoform 1

    See identical proteins and their annotated locations for NP_061887.2

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Consensus CDS
    CCDS2097.1
    UniProtKB/Swiss-Prot
    B7Z6Y7, B7Z823, F5GZX4, F8W898, Q2TAM4, Q585T5, Q6ZRR2, Q9H9D3, Q9H9Y6
    Related
    ENSP00000263331.5, ENST00000263331.10
    Conserved Domains (4) summary
    COG0085
    Location:35 → 1134
    RpoB; DNA-directed RNA polymerase, beta subunit/140 kD subunit [Transcription]
    cd00653
    Location:38 → 1133
    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 ...
    pfam04561
    Location:186 → 375
    RNA_pol_Rpb2_2; RNA polymerase Rpb2, domain 2
    pfam06883
    Location:563 → 616
    RNA_pol_Rpa2_4; RNA polymerase I, Rpa2 specific domain

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    112542036..112579818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    112968686..113006450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H9Y6.2 GenPept UniProtKB/Swiss-Prot:Q9H9Y6

Gene LinkOut

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