Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - O95602 (RPA1_HUMAN)

Protein

DNA-directed RNA polymerase I subunit RPA1

Gene

POLR1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).By similarity

Catalytic activityi

Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi64ZincBy similarity1
Metal bindingi67ZincBy similarity1
Metal bindingi74ZincBy similarity1
Metal bindingi77ZincBy similarity1
Metal bindingi588Magnesium; catalyticBy similarity1
Metal bindingi590Magnesium; catalyticBy similarity1
Metal bindingi592Magnesium; catalyticBy similarity1

GO - Molecular functioni

  • chromatin binding Source: UniProtKB
  • DNA binding Source: InterPro
  • RNA polymerase I activity Source: ParkinsonsUK-UCL
  • zinc ion binding Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionNucleotidyltransferase, Transferase
Biological processTranscription
LigandMagnesium, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-73863 RNA Polymerase I Transcription Termination

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-directed RNA polymerase I subunit RPA1 (EC:2.7.7.6)
Short name:
RNA polymerase I subunit A1
Alternative name(s):
A190
DNA-directed RNA polymerase I largest subunit
DNA-directed RNA polymerase I subunit A
RNA polymerase I 194 kDa subunit
Short name:
RPA194
Gene namesi
Name:POLR1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000068654.15
HGNCiHGNC:17264 POLR1A
MIMi616404 gene
neXtProtiNX_O95602

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

DNA-directed RNA polymerase, Nucleus

Pathology & Biotechi

Involvement in diseasei

Acrofacial dysostosis, Cincinnati type (AFDCIN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and, in some patients, the limbs.
See also OMIM:616462
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073964593E → Q in AFDCIN. 1 PublicationCorresponds to variant dbSNP:rs794729674EnsemblClinVar.1
Natural variantiVAR_0739651299V → F in AFDCIN. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi25885
MalaCardsiPOLR1A
MIMi616462 phenotype
OpenTargetsiENSG00000068654
Orphaneti1200 Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
PharmGKBiPA134891380

Chemistry databases

ChEMBLiCHEMBL3286067

Polymorphism and mutation databases

BioMutaiPOLR1A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000739231 – 1720DNA-directed RNA polymerase I subunit RPA1Add BLAST1720

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei240PhosphoserineCombined sources1
Modified residuei1386PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95602
MaxQBiO95602
PaxDbiO95602
PeptideAtlasiO95602
PRIDEiO95602
ProteomicsDBi50948

2D gel databases

SWISS-2DPAGEiO95602

PTM databases

iPTMnetiO95602
PhosphoSitePlusiO95602
SwissPalmiO95602

Miscellaneous databases

PMAP-CutDBiO95602

Expressioni

Gene expression databases

BgeeiENSG00000068654 Expressed in 144 organ(s), highest expression level in heart left ventricle
CleanExiHS_POLR1A
ExpressionAtlasiO95602 baseline and differential
GenevisibleiO95602 HS

Organism-specific databases

HPAiCAB010145
HPA031513
HPA049700

Interactioni

Subunit structurei

Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (PubMed:16809778). Interacts with MYO1C (By similarity). Interacts with ERBB2 (PubMed:21555369). Interacts with DDX11 (PubMed:26089203).By similarity3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi117396, 86 interactors
CORUMiO95602
DIPiDIP-27537N
IntActiO95602, 54 interactors
MINTiO95602
STRINGi9606.ENSP00000263857

Chemistry databases

BindingDBiO95602

Structurei

3D structure databases

ProteinModelPortaliO95602
SMRiO95602
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni961 – 973Bridging helixBy similarityAdd BLAST13

Sequence similaritiesi

Belongs to the RNA polymerase beta' chain family.Curated

Phylogenomic databases

eggNOGiKOG0262 Eukaryota
COG0086 LUCA
GeneTreeiENSGT00920000149138
HOGENOMiHOG000205401
HOVERGENiHBG017741
InParanoidiO95602
KOiK02999
OMAiRFFNRED
OrthoDBiEOG091G00IM
PhylomeDBiO95602
TreeFamiTF103033

Family and domain databases

Gene3Di1.10.132.30, 1 hit
InterProiView protein in InterPro
IPR015699 DNA-dir_RNA_pol1_lsu
IPR000722 RNA_pol_asu
IPR006592 RNA_pol_N
IPR007080 RNA_pol_Rpb1_1
IPR007066 RNA_pol_Rpb1_3
IPR007083 RNA_pol_Rpb1_4
IPR007081 RNA_pol_Rpb1_5
IPR038120 Rpb1_funnel_sf
PANTHERiPTHR19376:SF11 PTHR19376:SF11, 1 hit
PfamiView protein in Pfam
PF04997 RNA_pol_Rpb1_1, 1 hit
PF00623 RNA_pol_Rpb1_2, 1 hit
PF04983 RNA_pol_Rpb1_3, 1 hit
PF05000 RNA_pol_Rpb1_4, 1 hit
PF04998 RNA_pol_Rpb1_5, 1 hit
SMARTiView protein in SMART
SM00663 RPOLA_N, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O95602-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLISKNMPWR RLQGISFGMY SAEELKKLSV KSITNPRYLD SLGNPSANGL 
        60         70         80         90        100
YDLALGPADS KEVCSTCVQD FSNCSGHLGH IELPLTVYNP LLFDKLYLLL 
       110        120        130        140        150
RGSCLNCHML TCPRAVIHLL LCQLRVLEVG ALQAVYELER ILNRFLEENP 
       160        170        180        190        200
DPSASEIREE LEQYTTEIVQ NNLLGSQGAH VKNVCESKSK LIALFWKAHM 
       210        220        230        240        250
NAKRCPHCKT GRSVVRKEHN SKLTITFPAM VHRTAGQKDS EPLGIEEAQI 
       260        270        280        290        300
GKRGYLTPTS AREHLSALWK NEGFFLNYLF SGMDDDGMES RFNPSVFFLD 
       310        320        330        340        350
FLVVPPSRYR PVSRLGDQMF TNGQTVNLQA VMKDVVLIRK LLALMAQEQK 
       360        370        380        390        400
LPEEVATPTT DEEKDSLIAI DRSFLSTLPG QSLIDKLYNI WIRLQSHVNI 
       410        420        430        440        450
VFDSEMDKLM MDKYPGIRQI LEKKEGLFRK HMMGKRVDYA ARSVICPDMY 
       460        470        480        490        500
INTNEIGIPM VFATKLTYPQ PVTPWNVQEL RQAVINGPNV HPGASMVINE 
       510        520        530        540        550
DGSRTALSAV DMTQREAVAK QLLTPATGAP KPQGTKIVCR HVKNGDILLL 
       560        570        580        590        600
NRQPTLHRPS IQAHRARILP EEKVLRLHYA NCKAYNADFD GDEMNAHFPQ 
       610        620        630        640        650
SELGRAEAYV LACTDQQYLV PKDGQPLAGL IQDHMVSGAS MTTRGCFFTR 
       660        670        680        690        700
EHYMELVYRG LTDKVGRVKL LSPSILKPFP LWTGKQVVST LLINIIPEDH 
       710        720        730        740        750
IPLNLSGKAK ITGKAWVKET PRSVPGFNPD SMCESQVIIR EGELLCGVLD 
       760        770        780        790        800
KAHYGSSAYG LVHCCYEIYG GETSGKVLTC LARLFTAYLQ LYRGFTLGVE 
       810        820        830        840        850
DILVKPKADV KRQRIIEEST HCGPQAVRAA LNLPEAASYD EVRGKWQDAH 
       860        870        880        890        900
LGKDQRDFNM IDLKFKEEVN HYSNEINKAC MPFGLHRQFP ENSLQMMVQS 
       910        920        930        940        950
GAKGSTVNTM QISCLLGQIE LEGRRPPLMA SGKSLPCFEP YEFTPRAGGF 
       960        970        980        990       1000
VTGRFLTGIK PPEFFFHCMA GREGLVDTAV KTSRSGYLQR CIIKHLEGLV 
      1010       1020       1030       1040       1050
VQYDLTVRDS DGSVVQFLYG EDGLDIPKTQ FLQPKQFPFL ASNYEVIMKS 
      1060       1070       1080       1090       1100
QHLHEVLSRA DPKKALHHFR AIKKWQSKHP NTLLRRGAFL SYSQKIQEAV 
      1110       1120       1130       1140       1150
KALKLESENR NGRSPGTQEM LRMWYELDEE SRRKYQKKAA ACPDPSLSVW 
      1160       1170       1180       1190       1200
RPDIYFASVS ETFETKVDDY SQEWAAQTEK SYEKSELSLD RLRTLLQLKW 
      1210       1220       1230       1240       1250
QRSLCEPGEA VGLLAAQSIG EPSTQMTLNT FHFAGRGEMN VTLGIPRLRE 
      1260       1270       1280       1290       1300
ILMVASANIK TPMMSVPVLN TKKALKRVKS LKKQLTRVCL GEVLQKIDVQ 
      1310       1320       1330       1340       1350
ESFCMEEKQN KFQVYQLRFQ FLPHAYYQQE KCLRPEDILR FMETRFFKLL 
      1360       1370       1380       1390       1400
MESIKKKNNK ASAFRNVNTR RATQRDLDNA GELGRSRGEQ EGDEEEEGHI 
      1410       1420       1430       1440       1450
VDAEAEEGDA DASDAKRKEK QEEEVDYESE EEEEREGEEN DDEDMQEERN 
      1460       1470       1480       1490       1500
PHREGARKTQ EQDEEVGLGT EEDPSLPALL TQPRKPTHSQ EPQGPEAMER 
      1510       1520       1530       1540       1550
RVQAVREIHP FIDDYQYDTE ESLWCQVTVK LPLMKINFDM SSLVVSLAHG 
      1560       1570       1580       1590       1600
AVIYATKGIT RCLLNETTNN KNEKELVLNT EGINLPELFK YAEVLDLRRL 
      1610       1620       1630       1640       1650
YSNDIHAIAN TYGIEAALRV IEKEIKDVFA VYGIAVDPRH LSLVADYMCF 
      1660       1670       1680       1690       1700
EGVYKPLNRF GIRSNSSPLQ QMTFETSFQF LKQATMLGSH DELRSPSACL 
      1710       1720
VVGKVVRGGT GLFELKQPLR
Length:1,720
Mass (Da):194,811
Last modified:November 25, 2008 - v2
Checksum:iAD4BA543FFB98DC6
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B9ZVN9B9ZVN9_HUMAN
DNA-directed RNA polymerase subunit
POLR1A
1,659Annotation score:
F2Z3I7F2Z3I7_HUMAN
DNA-directed RNA polymerase I subun...
POLR1A
42Annotation score:

Sequence cautioni

The sequence AAC99959 differs from that shown. Reason: Frameshift at positions 1114 and 1469.Curated
The sequence AAD09356 differs from that shown. Reason: Frameshift at position 1114.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti143N → S in AAC99959 (Ref. 1) Curated1
Sequence conflicti309Y → S in AAC99959 (Ref. 1) Curated1
Sequence conflicti411M → R in AAC99959 (Ref. 1) Curated1
Sequence conflicti439 – 440YA → ST in AAC99959 (Ref. 1) Curated2
Sequence conflicti808A → R in AAC99959 (Ref. 1) Curated1
Sequence conflicti893S → T in AAC99959 (Ref. 1) Curated1
Sequence conflicti896M → L in AAC99959 (Ref. 1) Curated1
Sequence conflicti925 – 926RP → ST in AAC99959 (Ref. 1) Curated2
Sequence conflicti986G → A in AAD09356 (Ref. 1) Curated1
Sequence conflicti1371 – 1373RAT → TRI in AAD09356 (Ref. 1) Curated3
Sequence conflicti1470 – 1471Missing in AAC99959 (Ref. 1) Curated2
Sequence conflicti1616Missing in AAC99959 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047493150P → A2 PublicationsCorresponds to variant dbSNP:rs4832242Ensembl.1
Natural variantiVAR_047494349Q → E. Corresponds to variant dbSNP:rs17026866Ensembl.1
Natural variantiVAR_047495364K → E. Corresponds to variant dbSNP:rs35239368Ensembl.1
Natural variantiVAR_047496396S → N. Corresponds to variant dbSNP:rs35443467EnsemblClinVar.1
Natural variantiVAR_073964593E → Q in AFDCIN. 1 PublicationCorresponds to variant dbSNP:rs794729674EnsemblClinVar.1
Natural variantiVAR_047497815I → V. Corresponds to variant dbSNP:rs34302587Ensembl.1
Natural variantiVAR_0474981141A → T. Corresponds to variant dbSNP:rs34892520Ensembl.1
Natural variantiVAR_0739651299V → F in AFDCIN. 1 Publication1
Natural variantiVAR_0474991608I → M. Corresponds to variant dbSNP:rs35093541Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U33460 mRNA Translation: AAC99959.1 Frameshift.
AH007280 Transcribed RNA Translation: AAD09356.1 Frameshift.
AK302458 mRNA Translation: BAH13716.1
CH471053 Genomic DNA Translation: EAW99467.1
CH471053 Genomic DNA Translation: EAW99469.1
BC117173 mRNA Translation: AAI17174.1
BC126303 mRNA Translation: AAI26304.1
AL117467 mRNA Translation: CAB55942.1
CCDSiCCDS42706.1
PIRiT17252
RefSeqiNP_056240.2, NM_015425.4
UniGeneiHs.531818
Hs.594051

Genome annotation databases

EnsembliENST00000263857; ENSP00000263857; ENSG00000068654
GeneIDi25885
KEGGihsa:25885
UCSCiuc002sqs.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U33460 mRNA Translation: AAC99959.1 Frameshift.
AH007280 Transcribed RNA Translation: AAD09356.1 Frameshift.
AK302458 mRNA Translation: BAH13716.1
CH471053 Genomic DNA Translation: EAW99467.1
CH471053 Genomic DNA Translation: EAW99469.1
BC117173 mRNA Translation: AAI17174.1
BC126303 mRNA Translation: AAI26304.1
AL117467 mRNA Translation: CAB55942.1
CCDSiCCDS42706.1
PIRiT17252
RefSeqiNP_056240.2, NM_015425.4
UniGeneiHs.531818
Hs.594051

3D structure databases

ProteinModelPortaliO95602
SMRiO95602
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117396, 86 interactors
CORUMiO95602
DIPiDIP-27537N
IntActiO95602, 54 interactors
MINTiO95602
STRINGi9606.ENSP00000263857

Chemistry databases

BindingDBiO95602
ChEMBLiCHEMBL3286067

PTM databases

iPTMnetiO95602
PhosphoSitePlusiO95602
SwissPalmiO95602

Polymorphism and mutation databases

BioMutaiPOLR1A

2D gel databases

SWISS-2DPAGEiO95602

Proteomic databases

EPDiO95602
MaxQBiO95602
PaxDbiO95602
PeptideAtlasiO95602
PRIDEiO95602
ProteomicsDBi50948

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263857; ENSP00000263857; ENSG00000068654
GeneIDi25885
KEGGihsa:25885
UCSCiuc002sqs.4 human

Organism-specific databases

CTDi25885
DisGeNETi25885
EuPathDBiHostDB:ENSG00000068654.15
GeneCardsiPOLR1A
H-InvDBiHIX0002233
HGNCiHGNC:17264 POLR1A
HPAiCAB010145
HPA031513
HPA049700
MalaCardsiPOLR1A
MIMi616404 gene
616462 phenotype
neXtProtiNX_O95602
OpenTargetsiENSG00000068654
Orphaneti1200 Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
PharmGKBiPA134891380
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0262 Eukaryota
COG0086 LUCA
GeneTreeiENSGT00920000149138
HOGENOMiHOG000205401
HOVERGENiHBG017741
InParanoidiO95602
KOiK02999
OMAiRFFNRED
OrthoDBiEOG091G00IM
PhylomeDBiO95602
TreeFamiTF103033

Enzyme and pathway databases

ReactomeiR-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-73863 RNA Polymerase I Transcription Termination

Miscellaneous databases

ChiTaRSiPOLR1A human
GeneWikiiPOLR1A
GenomeRNAii25885
PMAP-CutDBiO95602
PROiPR:O95602
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068654 Expressed in 144 organ(s), highest expression level in heart left ventricle
CleanExiHS_POLR1A
ExpressionAtlasiO95602 baseline and differential
GenevisibleiO95602 HS

Family and domain databases

Gene3Di1.10.132.30, 1 hit
InterProiView protein in InterPro
IPR015699 DNA-dir_RNA_pol1_lsu
IPR000722 RNA_pol_asu
IPR006592 RNA_pol_N
IPR007080 RNA_pol_Rpb1_1
IPR007066 RNA_pol_Rpb1_3
IPR007083 RNA_pol_Rpb1_4
IPR007081 RNA_pol_Rpb1_5
IPR038120 Rpb1_funnel_sf
PANTHERiPTHR19376:SF11 PTHR19376:SF11, 1 hit
PfamiView protein in Pfam
PF04997 RNA_pol_Rpb1_1, 1 hit
PF00623 RNA_pol_Rpb1_2, 1 hit
PF04983 RNA_pol_Rpb1_3, 1 hit
PF05000 RNA_pol_Rpb1_4, 1 hit
PF04998 RNA_pol_Rpb1_5, 1 hit
SMARTiView protein in SMART
SM00663 RPOLA_N, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRPA1_HUMAN
AccessioniPrimary (citable) accession number: O95602
Secondary accession number(s): B7Z7T0
, D6W5M0, Q0VG05, Q9UEH0, Q9UFT9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 174 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again