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Protein

DNA-directed RNA polymerase III subunit RPC2

Gene

POLR3B

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. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.By similarity2 Publications

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi1080ZincBy similarity1
Metal bindingi1083ZincBy similarity1
Metal bindingi1092ZincBy similarity1
Metal bindingi1095ZincBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1080 – 1095C4-typeAdd BLAST16

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionNucleotidyltransferase, Transferase
Biological processAntiviral defense, Immunity, Innate immunity, Transcription
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-73780 RNA Polymerase III Chain Elongation
R-HSA-73980 RNA Polymerase III Transcription Termination
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation
R-HSA-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter
R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter
R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-directed RNA polymerase III subunit RPC2 (EC:2.7.7.6)
Short name:
RNA polymerase III subunit C2
Alternative name(s):
C128
DNA-directed RNA polymerase III 127.6 kDa polypeptide
DNA-directed RNA polymerase III subunit B
Gene namesi
Name:POLR3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000013503.9
HGNCiHGNC:30348 POLR3B
MIMi614366 gene
neXtProtiNX_Q9NW08

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

Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism.
See also OMIM:614381
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072344104L → F in HLD8. 1 Publication1
Natural variantiVAR_072345268S → G in HLD8. 1 Publication1
Natural variantiVAR_072346442R → C in HLD8. 1 Publication1
Natural variantiVAR_067005503T → K in HLD8. 1 PublicationCorresponds to variant dbSNP:rs267608683EnsemblClinVar.1
Natural variantiVAR_067006523V → E in HLD8. 2 PublicationsCorresponds to variant dbSNP:rs138249161EnsemblClinVar.1
Natural variantiVAR_072347527C → R in HLD8. 1 Publication1
Natural variantiVAR_067007620 – 652Missing in HLD8. 1 PublicationAdd BLAST33
Natural variantiVAR_067008768R → H in HLD8. 1 PublicationCorresponds to variant dbSNP:rs267608687EnsemblClinVar.1
Natural variantiVAR_067009926D → E in HLD8. 1 PublicationCorresponds to variant dbSNP:rs267608689EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi55703
GeneReviewsiPOLR3B
MalaCardsiPOLR3B
MIMi614381 phenotype
OpenTargetsiENSG00000013503
Orphaneti85186 Endosteal sclerosis-cerebellar hypoplasia syndrome
88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
PharmGKBiPA134867680

Polymorphism and mutation databases

BioMutaiPOLR3B
DMDMi29428029

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000480921 – 1133DNA-directed RNA polymerase III subunit RPC2Add BLAST1133

Proteomic databases

EPDiQ9NW08
MaxQBiQ9NW08
PaxDbiQ9NW08
PeptideAtlasiQ9NW08
PRIDEiQ9NW08
ProteomicsDBi82885

PTM databases

iPTMnetiQ9NW08
PhosphoSitePlusiQ9NW08

Expressioni

Gene expression databases

BgeeiENSG00000013503 Expressed in 189 organ(s), highest expression level in endometrium
CleanExiHS_POLR3B
ExpressionAtlasiQ9NW08 baseline and differential
GenevisibleiQ9NW08 HS

Organism-specific databases

HPAiHPA036466

Interactioni

Subunit structurei

Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits.By similarity

Protein-protein interaction databases

BioGridi120828, 63 interactors
IntActiQ9NW08, 11 interactors
STRINGi9606.ENSP00000228347

Structurei

3D structure databases

ProteinModelPortaliQ9NW08
SMRiQ9NW08
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RNA polymerase beta chain family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1080 – 1095C4-typeAdd BLAST16

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG0215 Eukaryota
COG0085 LUCA
GeneTreeiENSGT00920000149102
HOGENOMiHOG000222962
HOVERGENiHBG017744
InParanoidiQ9NW08
KOiK03021
OMAiFGMLCTS
OrthoDBiEOG091G00PZ
PhylomeDBiQ9NW08
TreeFamiTF103047

Family and domain databases

CDDicd00653 RNA_pol_B_RPB2, 1 hit
Gene3Di2.40.270.10, 1 hit
2.40.50.150, 1 hit
3.90.1110.10, 1 hit
InterProiView protein in InterPro
IPR015712 DNA-dir_RNA_pol_su2
IPR007120 DNA-dir_RNAP_su2_dom
IPR037033 DNA-dir_RNAP_su2_hyb_sf
IPR007121 RNA_pol_bsu_CS
IPR007644 RNA_pol_bsu_protrusion
IPR007642 RNA_pol_Rpb2_2
IPR037034 RNA_pol_Rpb2_2_sf
IPR007645 RNA_pol_Rpb2_3
IPR007646 RNA_pol_Rpb2_4
IPR007647 RNA_pol_Rpb2_5
IPR007641 RNA_pol_Rpb2_7
IPR014724 RNA_pol_RPB2_OB-fold
PANTHERiPTHR20856 PTHR20856, 1 hit
PfamiView protein in Pfam
PF04563 RNA_pol_Rpb2_1, 1 hit
PF04561 RNA_pol_Rpb2_2, 1 hit
PF04565 RNA_pol_Rpb2_3, 1 hit
PF04566 RNA_pol_Rpb2_4, 1 hit
PF04567 RNA_pol_Rpb2_5, 1 hit
PF00562 RNA_pol_Rpb2_6, 1 hit
PF04560 RNA_pol_Rpb2_7, 1 hit
PROSITEiView protein in PROSITE
PS01166 RNA_POL_BETA, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q9NW08-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDVLAEEFGN LTPEQLAAPI PTVEEKWRLL PAFLKVKGLV KQHIDSFNYF
60 70 80 90 100
INVEIKKIMK ANEKVTSDAD PMWYLKYLNI YVGLPDVEES FNVTRPVSPH
110 120 130 140 150
ECRLRDMTYS APITVDIEYT RGSQRIIRNA LPIGRMPIML RSSNCVLTGK
160 170 180 190 200
TPAEFAKLNE CPLDPGGYFI VKGVEKVILI QEQLSKNRII VEADRKGAVG
210 220 230 240 250
ASVTSSTHEK KSRTNMAVKQ GRFYLRHNTL SEDIPIVIIF KAMGVESDQE
260 270 280 290 300
IVQMIGTEEH VMAAFGPSLE ECQKAQIFTQ MQALKYIGNK VRRQRMWGGG
310 320 330 340 350
PKKTKIEEAR ELLASTILTH VPVKEFNFRA KCIYTAVMVR RVILAQGDNK
360 370 380 390 400
VDDRDYYGNK RLELAGQLLS LLFEDLFKKF NSEMKKIADQ VIPKQRAAQF
410 420 430 440 450
DVVKHMRQDQ ITNGMVNAIS TGNWSLKRFK MDRQGVTQVL SRLSYISALG
460 470 480 490 500
MMTRISSQFE KTRKVSGPRS LQPSQWGMLC PSDTPEGEAC GLVKNLALMT
510 520 530 540 550
HITTDMEDGP IVKLASNLGV EDVNLLCGEE LSYPNVFLVF LNGNILGVIR
560 570 580 590 600
DHKKLVNTFR LMRRAGYINE FVSISTNLTD RCVYISSDGG RLCRPYIIVK
610 620 630 640 650
KQKPAVTNKH MEELAQGYRN FEDFLHESLV EYLDVNEEND CNIALYEHTI
660 670 680 690 700
NKDTTHLEIE PFTLLGVCAG LIPYPHHNQS PRNTYQCAMG KQAMGTIGYN
710 720 730 740 750
QRNRIDTLMY LLAYPQKPMV KTKTIELIEF EKLPAGQNAT VAVMSYSGYD
760 770 780 790 800
IEDALVLNKA SLDRGFGRCL VYKNAKCTLK RYTNQTFDKV MGPMLDAATR
810 820 830 840 850
KPIWRHEILD ADGICSPGEK VENKQVLVNK SMPTVTQIPL EGSNVPQQPQ
860 870 880 890 900
YKDVPITYKG ATDSYIEKVM ISSNAEDAFL IKMLLRQTRR PEIGDKFSSR
910 920 930 940 950
HGQKGVCGLI VPQEDMPFCD SGICPDIIMN PHGFPSRMTV GKLIELLAGK
960 970 980 990 1000
AGVLDGRFHY GTAFGGSKVK DVCEDLVRHG YNYLGKDYVT SGITGEPLEA
1010 1020 1030 1040 1050
YIYFGPVYYQ KLKHMVLDKM HARARGPRAV LTRQPTEGRS RDGGLRLGEM
1060 1070 1080 1090 1100
ERDCLIGYGA SMLLLERLMI SSDAFEVDVC GQCGLLGYSG WCHYCKSSCH
1110 1120 1130
VSSLRIPYAC KLLFQELQSM NIIPRLKLSK YNE
Length:1,133
Mass (Da):127,785
Last modified:March 28, 2003 - v2
Checksum:iF0B3AFF892DDED7D
GO
Isoform 2 (identifier: Q9NW08-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.

Note: No experimental confirmation available.
Show »
Length:1,075
Mass (Da):121,120
Checksum:i48188014A09A87FA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VRU2F8VRU2_HUMAN
DNA-directed RNA polymerase III sub...
POLR3B
169Annotation score:

Sequence cautioni

The sequence BAA91527 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91581 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti258E → A in AAM18214 (PubMed:12391170).Curated1
Sequence conflicti607T → I in BAG53685 (PubMed:14702039).Curated1
Sequence conflicti978R → C in BAA91527 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072344104L → F in HLD8. 1 Publication1
Natural variantiVAR_072345268S → G in HLD8. 1 Publication1
Natural variantiVAR_072346442R → C in HLD8. 1 Publication1
Natural variantiVAR_067005503T → K in HLD8. 1 PublicationCorresponds to variant dbSNP:rs267608683EnsemblClinVar.1
Natural variantiVAR_067006523V → E in HLD8. 2 PublicationsCorresponds to variant dbSNP:rs138249161EnsemblClinVar.1
Natural variantiVAR_072347527C → R in HLD8. 1 Publication1
Natural variantiVAR_067007620 – 652Missing in HLD8. 1 PublicationAdd BLAST33
Natural variantiVAR_057255740T → A. Corresponds to variant dbSNP:rs17038460EnsemblClinVar.1
Natural variantiVAR_067008768R → H in HLD8. 1 PublicationCorresponds to variant dbSNP:rs267608687EnsemblClinVar.1
Natural variantiVAR_067009926D → E in HLD8. 1 PublicationCorresponds to variant dbSNP:rs267608689EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0452861 – 58Missing in isoform 2. 1 PublicationAdd BLAST58

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY092084 mRNA Translation: AAM18214.1
AK001161 mRNA Translation: BAA91527.1 Different initiation.
AK001250 mRNA Translation: BAA91581.1 Different initiation.
AK122713 mRNA Translation: BAG53685.1
AK291635 mRNA Translation: BAF84324.1
AC009721 Genomic DNA No translation available.
AC078992 Genomic DNA No translation available.
AC080012 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97780.1
BC046238 mRNA Translation: AAH46238.1
CCDSiCCDS53824.1 [Q9NW08-2]
CCDS9105.1 [Q9NW08-1]
RefSeqiNP_001154180.1, NM_001160708.1 [Q9NW08-2]
NP_060552.4, NM_018082.5 [Q9NW08-1]
UniGeneiHs.610795
Hs.62696

Genome annotation databases

EnsembliENST00000228347; ENSP00000228347; ENSG00000013503 [Q9NW08-1]
ENST00000539066; ENSP00000445721; ENSG00000013503 [Q9NW08-2]
GeneIDi55703
KEGGihsa:55703
UCSCiuc001tlp.3 human [Q9NW08-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY092084 mRNA Translation: AAM18214.1
AK001161 mRNA Translation: BAA91527.1 Different initiation.
AK001250 mRNA Translation: BAA91581.1 Different initiation.
AK122713 mRNA Translation: BAG53685.1
AK291635 mRNA Translation: BAF84324.1
AC009721 Genomic DNA No translation available.
AC078992 Genomic DNA No translation available.
AC080012 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97780.1
BC046238 mRNA Translation: AAH46238.1
CCDSiCCDS53824.1 [Q9NW08-2]
CCDS9105.1 [Q9NW08-1]
RefSeqiNP_001154180.1, NM_001160708.1 [Q9NW08-2]
NP_060552.4, NM_018082.5 [Q9NW08-1]
UniGeneiHs.610795
Hs.62696

3D structure databases

ProteinModelPortaliQ9NW08
SMRiQ9NW08
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120828, 63 interactors
IntActiQ9NW08, 11 interactors
STRINGi9606.ENSP00000228347

PTM databases

iPTMnetiQ9NW08
PhosphoSitePlusiQ9NW08

Polymorphism and mutation databases

BioMutaiPOLR3B
DMDMi29428029

Proteomic databases

EPDiQ9NW08
MaxQBiQ9NW08
PaxDbiQ9NW08
PeptideAtlasiQ9NW08
PRIDEiQ9NW08
ProteomicsDBi82885

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000228347; ENSP00000228347; ENSG00000013503 [Q9NW08-1]
ENST00000539066; ENSP00000445721; ENSG00000013503 [Q9NW08-2]
GeneIDi55703
KEGGihsa:55703
UCSCiuc001tlp.3 human [Q9NW08-1]

Organism-specific databases

CTDi55703
DisGeNETi55703
EuPathDBiHostDB:ENSG00000013503.9
GeneCardsiPOLR3B
GeneReviewsiPOLR3B
H-InvDBiHIX0037055
HGNCiHGNC:30348 POLR3B
HPAiHPA036466
MalaCardsiPOLR3B
MIMi614366 gene
614381 phenotype
neXtProtiNX_Q9NW08
OpenTargetsiENSG00000013503
Orphaneti85186 Endosteal sclerosis-cerebellar hypoplasia syndrome
88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
PharmGKBiPA134867680
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0215 Eukaryota
COG0085 LUCA
GeneTreeiENSGT00920000149102
HOGENOMiHOG000222962
HOVERGENiHBG017744
InParanoidiQ9NW08
KOiK03021
OMAiFGMLCTS
OrthoDBiEOG091G00PZ
PhylomeDBiQ9NW08
TreeFamiTF103047

Enzyme and pathway databases

ReactomeiR-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-73780 RNA Polymerase III Chain Elongation
R-HSA-73980 RNA Polymerase III Transcription Termination
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation
R-HSA-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter
R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter
R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter

Miscellaneous databases

ChiTaRSiPOLR3B human
GenomeRNAii55703
PROiPR:Q9NW08
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000013503 Expressed in 189 organ(s), highest expression level in endometrium
CleanExiHS_POLR3B
ExpressionAtlasiQ9NW08 baseline and differential
GenevisibleiQ9NW08 HS

Family and domain databases

CDDicd00653 RNA_pol_B_RPB2, 1 hit
Gene3Di2.40.270.10, 1 hit
2.40.50.150, 1 hit
3.90.1110.10, 1 hit
InterProiView protein in InterPro
IPR015712 DNA-dir_RNA_pol_su2
IPR007120 DNA-dir_RNAP_su2_dom
IPR037033 DNA-dir_RNAP_su2_hyb_sf
IPR007121 RNA_pol_bsu_CS
IPR007644 RNA_pol_bsu_protrusion
IPR007642 RNA_pol_Rpb2_2
IPR037034 RNA_pol_Rpb2_2_sf
IPR007645 RNA_pol_Rpb2_3
IPR007646 RNA_pol_Rpb2_4
IPR007647 RNA_pol_Rpb2_5
IPR007641 RNA_pol_Rpb2_7
IPR014724 RNA_pol_RPB2_OB-fold
PANTHERiPTHR20856 PTHR20856, 1 hit
PfamiView protein in Pfam
PF04563 RNA_pol_Rpb2_1, 1 hit
PF04561 RNA_pol_Rpb2_2, 1 hit
PF04565 RNA_pol_Rpb2_3, 1 hit
PF04566 RNA_pol_Rpb2_4, 1 hit
PF04567 RNA_pol_Rpb2_5, 1 hit
PF00562 RNA_pol_Rpb2_6, 1 hit
PF04560 RNA_pol_Rpb2_7, 1 hit
PROSITEiView protein in PROSITE
PS01166 RNA_POL_BETA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRPC2_HUMAN
AccessioniPrimary (citable) accession number: Q9NW08
Secondary accession number(s): A8K6H0
, B3KV73, F5H1E6, Q9NW59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: March 28, 2003
Last modified: November 7, 2018
This is version 164 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 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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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