Gene Gene information from NCBI Gene database.
Entrez ID 84172
Gene name RNA polymerase I subunit B
Gene symbol POLR1B
Synonyms (NCBI Gene)
A135RPA135RPA2Rpo1-2TCS4
Chromosome 2
Chromosome location 2q14.1
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. M
miRNA miRNA information provided by mirtarbase database.
450
miRTarBase ID miRNA Experiments Reference
MIRT020763 hsa-miR-155-5p Proteomics 18668040
MIRT032367 hsa-let-7b-5p Proteomics 18668040
MIRT044045 hsa-miR-365a-3p CLASH 23622248
MIRT674333 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT674332 hsa-miR-5582-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IEA
GO:0003899 Function DNA-directed RNA polymerase activity IDA 34671025, 36271492
GO:0003899 Function DNA-directed RNA polymerase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602000 20454 ENSG00000125630
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H9Y6
Protein name DNA-directed RNA polymerase I subunit RPA2 (RNA polymerase I subunit 2) (EC 2.7.7.6) (DNA-directed RNA polymerase I 135 kDa polypeptide) (RPA135)
Protein function Catalytic core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Transcribes 47S pre-rRNAs from multicopy rRNA gene cluster
PDB 7OB9 , 7OBA , 7OBB , 7VBA , 7VBB , 7VBC , 8A43
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04563 RNA_pol_Rpb2_1 37 422 RNA polymerase beta subunit Family
PF04561 RNA_pol_Rpb2_2 186 375 RNA polymerase Rpb2, domain 2 Domain
PF04565 RNA_pol_Rpb2_3 455 520 RNA polymerase Rpb2, domain 3 Domain
PF06883 RNA_pol_Rpa2_4 563 621 RNA polymerase I, Rpa2 specific domain Domain
PF00562 RNA_pol_Rpb2_6 670 1031 RNA polymerase Rpb2, domain 6 Domain
PF04560 RNA_pol_Rpb2_7 1033 1135 RNA polymerase Rpb2, domain 7 Domain
Sequence
MDPGSRWRNLPSGPSLKHLTDPSYGIPREQQKAALQELTRAHVESFNYAVHEGLGLAVQA
IPPFEFAFKDERISFTILDAVISPPTVPKGTICKEANVYPAECRGRRSTYRGKLTADINW
AVNGISKGIIKQFLGYVPIMVKSKLCNLRNLPPQALIEHHEEAEEMGGYFIINGIEKVIR
MLIMP
RRNFPIAMIRPKWKTRGPGYTQYGVSMHCVREEHSAVNMNLHYLENGTVMLNFIY
RKELFFLPLGFALKALVSFSDYQIFQELIKGKEDDSFLRNSVSQMLRIVMEEGCSTQKQV
LNYLGECFRVKLNVPDWYPNEQAAEFLFNQCICIHLKSNTEKFYMLCLMTRKLFALAKGE
CMEDNPDSLVNQEVL
TPGQLFLMFLKEKLEGWLVSIKIAFDKKAQKTSVSMNTDNLMRIF
TM
GIDLTKPFEYLFATGNLRSKTGLGLLQDSGLCVVADKLNFIRYLSHFRCVHRGADFAK
MRTTTVRRLLPESWGFLCPVHTPDGEPCGLMNHLTAVCEV
VTQFVYTASIPALLCNLGVT
PIDGAPHRSYSECYPVLLDGVMVGWVDKDLAPGIADSLRHFKVLREKRIPPWMEVVLIPM
TGKPSLYPGLFLFTTPCRLVR
PVQNLALGKEELIGTMEQIFMNVAIFEDEVFAGVTTHQE
LFPHSLLSVIANFIPFSDHNQSPRNMYQCQMGKQTMGFPLLTYQDRSDNKLYRLQTPQSP
LVRPSMYDYYDMDNYPIGTNAIVAVISYTGYDMEDAMIVNKASWERGFAHGSVYKSEFID
LSEKIKQGDSSLVFGIKPGDPRVLQKLDDDGLPFIGAKLQYGDPYYSYLNLNTGESFVMY
YKSKENCVVDNIKVCSNDTGSGKFKCVCITMRVPRNPTIGDKFASRHGQKGILSRLWPAE
DMPFTESGMVPDILFNPHGFPSRMTIGMLIESMAGKSAALHGLCHDATPFIFSEENSALE
YFGEMLKAAGYNFYGTERLYSGISGLELEADIFIGVVYYQRLRHMVSDKFQVRTTGARDR
VTNQPIGGRNV
QGGIRFGEMERDALLAHGTSFLLHDRLFNCSDRSVAHVCVKCGSLLSPL
LEKPPPSWSAMRNRKYNCTLCSRSDTIDTVSVPYVFRYFVAELAAMNIKVKLDVV
Sequence length 1135
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA polymerase   B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
POLR1B-related disorder Pathogenic rs1684813071 RCV003945916
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Treacher Collins syndrome Pathogenic rs1684443250, rs1684813071 RCV003319220
RCV003319221
RCV003319222
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Treacher Collins syndrome 4 Likely pathogenic; Pathogenic rs2467555675, rs1684443250, rs1684813071 RCV004585128
RCV001200056
RCV001200057
RCV001200058
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 11359916 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 11895905
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11895905, 28007956, 28837865
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 11895905 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 11895905 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 11895905 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma in Situ Carcinoma in situ Pubtator 11895905 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 17361204, 28389531, 33627384 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis Lynch syndrome Pubtator 31297992 Associate
★☆☆☆☆
Found in Text Mining only
Ductal Breast Carcinoma Breast Carcinoma BEFREE 11895905
★☆☆☆☆
Found in Text Mining only