U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

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

    Summary

    Go to the top of the page Help
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

    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

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    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.

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous