• Gene id: 25885

Gene Summary

• Gene Symbol: POLR1A   Gene   UCSC   Ensembl
• Aliases: A190, AFDCIN, RPA1, RPA194, RPO1-4, RPO14
• Gene name: RNA polymerase I subunit A
• Alternate names: DNA-directed RNA polymerase I subunit RPA1, DNA-directed RNA polymerase I largest subunit, DNA-directed RNA polymerase I subunit A, DNA-directed RNA polymerase I subunit A1, RNA polymerase I 194 kDa subunit, polymerase (RNA) I polypeptide A, 194kDa, polymerase ,
• Gene location: 2p11.2 (5970849: 5926135)     Exons: 21     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cinc
• OMIM: 616404

Protein Summary

• Protein general information: O95602  
  • Name: DNA directed RNA polymerase I subunit RPA1 (RNA polymerase I subunit A1) (EC 2.7.7.6) (A190) (DNA directed RNA polymerase I largest subunit) (DNA directed RNA polymerase I subunit A) (RNA polymerase I 194 kDa subunit) (RPA194)
  • Length: 1720  
  • Mass: 194811
• Sequence:

  MLISKNMPWRRLQGISFGMYSAEELKKLSVKSITNPRYLDSLGNPSANGLYDLALGPADSKEVCSTCVQDFSNCS
  GHLGHIELPLTVYNPLLFDKLYLLLRGSCLNCHMLTCPRAVIHLLLCQLRVLEVGALQAVYELERILNRFLEENP
  DPSASEIREELEQYTTEIVQNNLLGSQGAHVKNVCESKSKLIALFWKAHMNAKRCPHCKTGRSVVRKEHNSKLTI
  TFPAMVHRTAGQKDSEPLGIEEAQIGKRGYLTPTSAREHLSALWKNEGFFLNYLFSGMDDDGMESRFNPSVFFLD
  FLVVPPSRYRPVSRLGDQMFTNGQTVNLQAVMKDVVLIRKLLALMAQEQKLPEEVATPTTDEEKDSLIAIDRSFL
  STLPGQSLIDKLYNIWIRLQSHVNIVFDSEMDKLMMDKYPGIRQILEKKEGLFRKHMMGKRVDYAARSVICPDMY
  INTNEIGIPMVFATKLTYPQPVTPWNVQELRQAVINGPNVHPGASMVINEDGSRTALSAVDMTQREAVAKQLLTP
  ATGAPKPQGTKIVCRHVKNGDILLLNRQPTLHRPSIQAHRARILPEEKVLRLHYANCKAYNADFDGDEMNAHFPQ
  SELGRAEAYVLACTDQQYLVPKDGQPLAGLIQDHMVSGASMTTRGCFFTREHYMELVYRGLTDKVGRVKLLSPSI
  LKPFPLWTGKQVVSTLLINIIPEDHIPLNLSGKAKITGKAWVKETPRSVPGFNPDSMCESQVIIREGELLCGVLD
  KAHYGSSAYGLVHCCYEIYGGETSGKVLTCLARLFTAYLQLYRGFTLGVEDILVKPKADVKRQRIIEESTHCGPQ
  AVRAALNLPEAASYDEVRGKWQDAHLGKDQRDFNMIDLKFKEEVNHYSNEINKACMPFGLHRQFPENSLQMMVQS
  GAKGSTVNTMQISCLLGQIELEGRRPPLMASGKSLPCFEPYEFTPRAGGFVTGRFLTGIKPPEFFFHCMAGREGL
  VDTAVKTSRSGYLQRCIIKHLEGLVVQYDLTVRDSDGSVVQFLYGEDGLDIPKTQFLQPKQFPFLASNYEVIMKS
  QHLHEVLSRADPKKALHHFRAIKKWQSKHPNTLLRRGAFLSYSQKIQEAVKALKLESENRNGRSPGTQEMLRMWY
  ELDEESRRKYQKKAAACPDPSLSVWRPDIYFASVSETFETKVDDYSQEWAAQTEKSYEKSELSLDRLRTLLQLKW
  QRSLCEPGEAVGLLAAQSIGEPSTQMTLNTFHFAGRGEMNVTLGIPRLREILMVASANIKTPMMSVPVLNTKKAL
  KRVKSLKKQLTRVCLGEVLQKIDVQESFCMEEKQNKFQVYQLRFQFLPHAYYQQEKCLRPEDILRFMETRFFKLL
  MESIKKKNNKASAFRNVNTRRATQRDLDNAGELGRSRGEQEGDEEEEGHIVDAEAEEGDADASDAKRKEKQEEEV
  DYESEEEEEREGEENDDEDMQEERNPHREGARKTQEQDEEVGLGTEEDPSLPALLTQPRKPTHSQEPQGPEAMER
  RVQAVREIHPFIDDYQYDTEESLWCQVTVKLPLMKINFDMSSLVVSLAHGAVIYATKGITRCLLNETTNNKNEKE
  LVLNTEGINLPELFKYAEVLDLRRLYSNDIHAIANTYGIEAALRVIEKEIKDVFAVYGIAVDPRHLSLVADYMCF
  EGVYKPLNRFGIRSNSSPLQQMTFETSFQFLKQATMLGSHDELRSPSACLVVGKVVRGGTGLFELKQPLR

• Structural information:
  • Interpro: IPR015699  IPR000722  IPR006592  IPR007080  IPR007066   IPR042102  IPR007083  IPR007081  IPR038120  
  • DIP: 27537
  • STRING: ENSP00000263857
• Other Databases: GeneCards:  POLR1A  Malacards:  POLR1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001054	RNA polymerase I activity	IMP	molecular function
GO:1904750	negative regulation of protein localization to nucleolus	IMP	biological process
GO:1904750	negative regulation of protein localization to nucleolus	IMP	biological process
GO:0005736	RNA polymerase I complex	IBA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IBA	contributes to
GO:0003682	chromatin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005736	RNA polymerase I complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03020	RNA polymerase

Diseases

Associated diseases	References
Acrofacial dysostosis	KEGG:H01376
Acrofacial dysostosis	KEGG:H01376
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)