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Protein

DNA-directed RNA polymerase I subunit RPA1

Gene

POLR1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi64 – 641ZincBy similarity
Metal bindingi67 – 671ZincBy similarity
Metal bindingi74 – 741ZincBy similarity
Metal bindingi77 – 771ZincBy similarity
Metal bindingi588 – 5881Magnesium; catalyticBy similarity
Metal bindingi590 – 5901Magnesium; catalyticBy similarity
Metal bindingi592 – 5921Magnesium; catalyticBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Keywords - Biological processi

Transcription

Keywords - Ligandi

Magnesium, 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:17264. POLR1A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti593 – 5931E → Q in AFDCIN. 1 Publication
Corresponds to variant rs794729674 [ dbSNP | Ensembl ].
VAR_073964
Natural varianti1299 – 12991V → F in AFDCIN. 1 Publication
VAR_073965

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616462. phenotype.
PharmGKBiPA134891380.

Chemistry

ChEMBLiCHEMBL3286067.

Polymorphism and mutation databases

BioMutaiPOLR1A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 17201720DNA-directed RNA polymerase I subunit RPA1PRO_0000073923Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei240 – 2401PhosphoserineCombined sources
Modified residuei1386 – 13861PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95602.
MaxQBiO95602.
PaxDbiO95602.
PeptideAtlasiO95602.
PRIDEiO95602.

2D gel databases

SWISS-2DPAGEO95602.

PTM databases

iPTMnetiO95602.
PhosphoSiteiO95602.
SwissPalmiO95602.

Miscellaneous databases

PMAP-CutDBO95602.

Expressioni

Gene expression databases

BgeeiENSG00000068654.
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. Interacts with MYO1C. Interacts with ERBB2 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ERBB2P0462616EBI-359472,EBI-641062
POLR1BQ9H9Y63EBI-359472,EBI-355441
RELQ048643EBI-359472,EBI-307352
TCF4P158843EBI-359472,EBI-533224

Protein-protein interaction databases

BioGridi117396. 77 interactions.
DIPiDIP-27537N.
IntActiO95602. 48 interactions.
MINTiMINT-111492.
STRINGi9606.ENSP00000263857.

Chemistry

BindingDBiO95602.

Structurei

3D structure databases

ProteinModelPortaliO95602.
SMRiO95602. Positions 15-107, 253-1025, 1168-1394, 1501-1719.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni961 – 97313Bridging helixBy similarityAdd
BLAST

Sequence similaritiesi

Belongs to the RNA polymerase beta' chain family.Curated

Phylogenomic databases

eggNOGiKOG0262. Eukaryota.
COG0086. LUCA.
GeneTreeiENSGT00550000074861.
HOGENOMiHOG000205401.
HOVERGENiHBG017741.
InParanoidiO95602.
KOiK02999.
OMAiAMGAPKP.
OrthoDBiEOG091G00IM.
PhylomeDBiO95602.
TreeFamiTF103033.

Family and domain databases

InterProiIPR015699. 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.
[Graphical view]
PANTHERiPTHR19376:SF11. PTHR19376:SF11. 5 hits.
PfamiPF04997. 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.
[Graphical view]
SMARTiSM00663. RPOLA_N. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti143 – 1431N → S in AAC99959 (Ref. 1) Curated
Sequence conflicti309 – 3091Y → S in AAC99959 (Ref. 1) Curated
Sequence conflicti411 – 4111M → R in AAC99959 (Ref. 1) Curated
Sequence conflicti439 – 4402YA → ST in AAC99959 (Ref. 1) Curated
Sequence conflicti808 – 8081A → R in AAC99959 (Ref. 1) Curated
Sequence conflicti893 – 8931S → T in AAC99959 (Ref. 1) Curated
Sequence conflicti896 – 8961M → L in AAC99959 (Ref. 1) Curated
Sequence conflicti925 – 9262RP → ST in AAC99959 (Ref. 1) Curated
Sequence conflicti986 – 9861G → A in AAD09356 (Ref. 1) Curated
Sequence conflicti1371 – 13733RAT → TRI in AAD09356 (Ref. 1) Curated
Sequence conflicti1470 – 14712Missing in AAC99959 (Ref. 1) Curated
Sequence conflicti1616 – 16161Missing in AAC99959 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501P → A.2 Publications
Corresponds to variant rs4832242 [ dbSNP | Ensembl ].
VAR_047493
Natural varianti349 – 3491Q → E.
Corresponds to variant rs17026866 [ dbSNP | Ensembl ].
VAR_047494
Natural varianti364 – 3641K → E.
Corresponds to variant rs35239368 [ dbSNP | Ensembl ].
VAR_047495
Natural varianti396 – 3961S → N.
Corresponds to variant rs35443467 [ dbSNP | Ensembl ].
VAR_047496
Natural varianti593 – 5931E → Q in AFDCIN. 1 Publication
Corresponds to variant rs794729674 [ dbSNP | Ensembl ].
VAR_073964
Natural varianti815 – 8151I → V.
Corresponds to variant rs34302587 [ dbSNP | Ensembl ].
VAR_047497
Natural varianti1141 – 11411A → T.
Corresponds to variant rs34892520 [ dbSNP | Ensembl ].
VAR_047498
Natural varianti1299 – 12991V → F in AFDCIN. 1 Publication
VAR_073965
Natural varianti1608 – 16081I → M.
Corresponds to variant rs35093541 [ dbSNP | Ensembl ].
VAR_047499

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.

3D structure databases

ProteinModelPortaliO95602.
SMRiO95602. Positions 15-107, 253-1025, 1168-1394, 1501-1719.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117396. 77 interactions.
DIPiDIP-27537N.
IntActiO95602. 48 interactions.
MINTiMINT-111492.
STRINGi9606.ENSP00000263857.

Chemistry

BindingDBiO95602.
ChEMBLiCHEMBL3286067.

PTM databases

iPTMnetiO95602.
PhosphoSiteiO95602.
SwissPalmiO95602.

Polymorphism and mutation databases

BioMutaiPOLR1A.

2D gel databases

SWISS-2DPAGEO95602.

Proteomic databases

EPDiO95602.
MaxQBiO95602.
PaxDbiO95602.
PeptideAtlasiO95602.
PRIDEiO95602.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi25885.
GeneCardsiPOLR1A.
H-InvDBHIX0002233.
HGNCiHGNC:17264. POLR1A.
HPAiCAB010145.
HPA031513.
HPA049700.
MIMi616404. gene.
616462. phenotype.
neXtProtiNX_O95602.
PharmGKBiPA134891380.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0262. Eukaryota.
COG0086. LUCA.
GeneTreeiENSGT00550000074861.
HOGENOMiHOG000205401.
HOVERGENiHBG017741.
InParanoidiO95602.
KOiK02999.
OMAiAMGAPKP.
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-CutDBO95602.
PROiO95602.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068654.
CleanExiHS_POLR1A.
ExpressionAtlasiO95602. baseline and differential.
GenevisibleiO95602. HS.

Family and domain databases

InterProiIPR015699. 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.
[Graphical view]
PANTHERiPTHR19376:SF11. PTHR19376:SF11. 5 hits.
PfamiPF04997. 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.
[Graphical view]
SMARTiSM00663. RPOLA_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRPA1_HUMAN
AccessioniPrimary (citable) accession number: O95602
Secondary accession number(s): B7Z7T0
, D6W5M0, Q0VG05, Q9UEH0, Q9UFT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 25, 2008
Last modified: September 7, 2016
This is version 152 of the entry and version 2 of the sequence. [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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.