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

Summary

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
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Genomic context

Location:: 2q14.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (112542036..112579818)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (112968686..113006450)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (113299613..113337395)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of RNA polymerase I catalytic core is influenced by RPA12.
Title: Expression of RNA polymerase I catalytic core is influenced by RPA12.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18426 (e-PCR)
- UniSTS:34648

POLR1B_3628 (e-PCR)
- UniSTS:462430

RH103312 (e-PCR)
- UniSTS:97643

D10S16 (e-PCR)
- UniSTS:155756

AB070203 (e-PCR)
- UniSTS:480178

D13S1639 (e-PCR)
- UniSTS:473568

D2S1838 (e-PCR)
- UniSTS:11246

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 RNA polymerase II activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase III activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase IV activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase V activity	IEA Inferred from Electronic Annotation more info
enables mitochondrial single subunit type RNA polymerase activity	IEA Inferred from Electronic Annotation more info
enables plastid single subunit type RNA polymerase activity	IEA Inferred from Electronic Annotation 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 mitochondrial transcription	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 plastid transcription	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
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase III	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase IV	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase V	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

EC 2.7.7.6

NP_001269701.1

EC 2.7.7.6

NP_001269703.1

EC 2.7.7.6

NP_001269705.1

EC 2.7.7.6

NP_001269706.1

EC 2.7.7.6

NP_001269708.1

EC 2.7.7.6

NP_001358898.1

EC 2.7.7.6

NP_001358899.1

EC 2.7.7.6

NP_001358900.1

EC 2.7.7.6

NP_061887.2

EC 2.7.7.6

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)

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
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
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
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
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
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
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
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
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
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