• Gene id: 84172

Gene Summary

• Gene Symbol: POLR1B   Gene   UCSC   Ensembl
• Aliases: A135, RPA135, RPA2, Rpo1-2
• Gene name: RNA polymerase I subunit B
• Alternate names: DNA-directed RNA polymerase I subunit RPA2, 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,
• Gene location: 2q14.1 (112542035: 112579817)     Exons: 18     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 602000

Protein Summary

• Protein general information: Q9H9Y6  
  • 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)
  • Length: 1135  
  • Mass: 128229
• Sequence:

  MDPGSRWRNLPSGPSLKHLTDPSYGIPREQQKAALQELTRAHVESFNYAVHEGLGLAVQAIPPFEFAFKDERISF
  TILDAVISPPTVPKGTICKEANVYPAECRGRRSTYRGKLTADINWAVNGISKGIIKQFLGYVPIMVKSKLCNLRN
  LPPQALIEHHEEAEEMGGYFIINGIEKVIRMLIMPRRNFPIAMIRPKWKTRGPGYTQYGVSMHCVREEHSAVNMN
  LHYLENGTVMLNFIYRKELFFLPLGFALKALVSFSDYQIFQELIKGKEDDSFLRNSVSQMLRIVMEEGCSTQKQV
  LNYLGECFRVKLNVPDWYPNEQAAEFLFNQCICIHLKSNTEKFYMLCLMTRKLFALAKGECMEDNPDSLVNQEVL
  TPGQLFLMFLKEKLEGWLVSIKIAFDKKAQKTSVSMNTDNLMRIFTMGIDLTKPFEYLFATGNLRSKTGLGLLQD
  SGLCVVADKLNFIRYLSHFRCVHRGADFAKMRTTTVRRLLPESWGFLCPVHTPDGEPCGLMNHLTAVCEVVTQFV
  YTASIPALLCNLGVTPIDGAPHRSYSECYPVLLDGVMVGWVDKDLAPGIADSLRHFKVLREKRIPPWMEVVLIPM
  TGKPSLYPGLFLFTTPCRLVRPVQNLALGKEELIGTMEQIFMNVAIFEDEVFAGVTTHQELFPHSLLSVIANFIP
  FSDHNQSPRNMYQCQMGKQTMGFPLLTYQDRSDNKLYRLQTPQSPLVRPSMYDYYDMDNYPIGTNAIVAVISYTG
  YDMEDAMIVNKASWERGFAHGSVYKSEFIDLSEKIKQGDSSLVFGIKPGDPRVLQKLDDDGLPFIGAKLQYGDPY
  YSYLNLNTGESFVMYYKSKENCVVDNIKVCSNDTGSGKFKCVCITMRVPRNPTIGDKFASRHGQKGILSRLWPAE
  DMPFTESGMVPDILFNPHGFPSRMTIGMLIESMAGKSAALHGLCHDATPFIFSEENSALEYFGEMLKAAGYNFYG
  TERLYSGISGLELEADIFIGVVYYQRLRHMVSDKFQVRTTGARDRVTNQPIGGRNVQGGIRFGEMERDALLAHGT
  SFLLHDRLFNCSDRSVAHVCVKCGSLLSPLLEKPPPSWSAMRNRKYNCTLCSRSDTIDTVSVPYVFRYFVAELAA
  MNIKVKLDVV

• Structural information:
  • Interpro: IPR015712  IPR007120  IPR037033  IPR007121  IPR007644   IPR007642  IPR037034  IPR007645  IPR007641  IPR014724  IPR009674  
  • Prosite: PS01166
  • CDD: cd00653
  • DIP: 27538
  • STRING: ENSP00000444136
• Other Databases: GeneCards:  POLR1B  Malacards:  POLR1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005736	RNA polymerase I complex	IBA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IBA	contributes to
GO:0032549	ribonucleoside binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0045815	positive regulation of gene expression, epigenetic	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007566	embryo implantation	IEA	biological process
GO:0005736	RNA polymerase I complex	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0017126	nucleologenesis	IEA	biological process
GO:0009303	rRNA transcription	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03020	RNA polymerase

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881