1. Gene
  2. POLR1B - RNA polymerase I subunit B Gene

POLR1B - RNA polymerase I subunit B Gene

Homo sapiens

Also known as A135; RPA2; TCS4; RPA135; Rpo1-2

Gene ID: 84172 | Gene type: protein coding

About POLR1B

Cytogenetic location: 2q14.1 Genomic coordinates (GRCh38): 2:112,542,036-112,579,818 (from NCBI)

This gene has 17 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.8) and 25 other tissues.

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]

POLR1B Products(10)

mRNA Protein Name
NM_001137604.3 NP_001131076.1 DNA-directed RNA polymerase I subunit RPA2 isoform 2
NM_001282772.2 NP_001269701.1 DNA-directed RNA polymerase I subunit RPA2 isoform 3
NM_001282774.2 NP_001269703.1 DNA-directed RNA polymerase I subunit RPA2 isoform 4
NM_001282776.2 NP_001269705.1 DNA-directed RNA polymerase I subunit RPA2 isoform 5
NM_001282777.2 NP_001269706.1 DNA-directed RNA polymerase I subunit RPA2 isoform 6
NM_001282779.2 NP_001269708.1 DNA-directed RNA polymerase I subunit RPA2 isoform 6
NM_001371969.1 NP_001358898.1 DNA-directed RNA polymerase I subunit RPA2 isoform 7
NM_001371970.1 NP_001358899.1 DNA-directed RNA polymerase I subunit RPA2 isoform 6
NM_001371971.1 NP_001358900.1 DNA-directed RNA polymerase I subunit RPA2 isoform 5
NM_019014.6 NP_061887.2 DNA-directed RNA polymerase I subunit RPA2 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-directed 5'-3' RNA polymerase activity IDA
IDA: Inferred from direct assay
34671025 GOA
enables DNA/RNA hybrid binding IDA
IDA: Inferred from direct assay
34671025 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16514417 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
34671025 GOA
Cellular Component GO Annotation Evidence Reference Source
part of RNA polymerase I complex IDA
IDA: Inferred from direct assay
34671025 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLR1B Protein Structure

RNA_pol_Rpb2_1

RNA_pol_Rpb2_1: RNA polymerase beta subunit (37 - 417)

RNA_pol_Rpb2_2

RNA_pol_Rpb2_2: RNA polymerase Rpb2, domain 2 (186 - 374)

RNA_pol_Rpb2_3

RNA_pol_Rpb2_3: RNA polymerase Rpb2, domain 3 (456 - 520)

RNA_pol_Rpa2_4

RNA_pol_Rpa2_4: RNA polymerase I, Rpa2 specific domain (563 - 621)

RNA_pol_Rpb2_5

RNA_pol_Rpb2_5: RNA polymerase Rpb2, domain 5 (623 - 663)

RNA_pol_Rpb2_6

RNA_pol_Rpb2_6: RNA polymerase Rpb2, domain 6 (668 - 1030)

RNA_pol_Rpb2_7

RNA_pol_Rpb2_7: RNA polymerase Rpb2, domain 7 (1033 - 1133)

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  • 1135 a.a.
Protein Preferred Names Protein Names

DNA-directed RNA polymerase I subunit RPA2

DNA-directed RNA polymerase I 135 kDa polypeptide

POLR1B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra POLR1B Q9H9Y6 POLR1A Homo sapiens O95602
Anti Tag CoIP
35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Treacher Collins Syndrome 4

TCS4

Treacher-Collins Syndrome 4

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Neurofibromatosis-Noonan Syndrome

NFNS

Neurofibromatosis Type 1

Neurofibromatosis With Noonan Phenotype

Nf1

Von Recklinghausen Disease

Neurofibromatosis Type 1-Noonan Syndrome

Noonan Neurofibromatosis Syndrome

Recklinghausen'S Disease

Noonan-Neurofibromatosis Syndrome

Fibromatosis Multiple Non Ossifying

Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots

Jaffe Campanacci Syndrome

Type 1 Neurofibromatosis

Neurofibromatosis 1

Peripheral Neurofibromatosis

Recklinghausen Disease, Nerve

Jaffe-Campanacci Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris POLR1B VGNC VGNC:44789
Felis catus POLR1B VGNC VGNC:64286
Rattus norvegicus POLR1B RGD RGD:620822
Macaca mulatta POLR1B VGNC VGNC:76083
Bos taurus POLR1B VGNC VGNC:33132
Mus musculus POLR1B MGD MGI:108014