Skip Header

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

DNA-directed RNA polymerases I and III subunit RPAC1

Gene

POLR1C

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. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).By similarity1 Publication

GO - Molecular functioni

  • DNA binding Source: InterPro
  • DNA-directed 5'-3' RNA polymerase activity Source: ProtInc
  • protein dimerization activity Source: InterPro

GO - Biological processi

Keywordsi

Biological processTranscription

Enzyme and pathway databases

ReactomeiR-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-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-73780 RNA Polymerase III Chain Elongation
R-HSA-73863 RNA Polymerase I Transcription Termination
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 polymerases I and III subunit RPAC1
Short name:
DNA-directed RNA polymerase I subunit C
Short name:
RNA polymerases I and III subunit AC1
Alternative name(s):
AC40
DNA-directed RNA polymerases I and III 40 kDa polypeptide
Short name:
RPA40
RPA39
RPC40
Gene namesi
Name:POLR1C
Synonyms:POLR1E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000171453.17
HGNCiHGNC:20194 POLR1C
MIMi610060 gene
neXtProtiNX_O15160

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

Treacher Collins syndrome 3 (TCS3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
See also OMIM:248390
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064899279R → Q in TCS3; no effect on localization to the nucleus; no effect on association with RNA polymerase I and RNA polymerase III complexes. 2 PublicationsCorresponds to variant dbSNP:rs191582628EnsemblClinVar.1
Natural variantiVAR_064900279R → W in TCS3. 1 PublicationCorresponds to variant dbSNP:rs141156009EnsemblClinVar.1
Leukodystrophy, hypomyelinating, 11 (HLD11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism.
See also OMIM:616494
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07465526T → I in HLD11. 1 PublicationCorresponds to variant dbSNP:rs796052126EnsemblClinVar.1
Natural variantiVAR_07465632N → I in HLD11; decreased localization to the nucleus and retained in the cytoplasm; loss of association with RNA polymerase III-transcribed genes; decreased association with RNA polymerase III complex; probably prevents RNA polymerase III complex assembly and activity. 1 PublicationCorresponds to variant dbSNP:rs796052124EnsemblClinVar.1
Natural variantiVAR_07465765M → V in HLD11. 1 PublicationCorresponds to variant dbSNP:rs141471029EnsemblClinVar.1
Natural variantiVAR_07465874N → S in HLD11; decreased localization to the nucleus and retained in the cytoplasm; loss of association with RNA polymerase III-transcribed genes; decreased association with RNA polymerase III complex; probably prevents RNA polymerase III complex assembly and activity. 1 PublicationCorresponds to variant dbSNP:rs371802902EnsemblClinVar.1
Natural variantiVAR_07465994V → A in HLD11. 1 Publication1
Natural variantiVAR_074660109R → H in HLD11. 1 PublicationCorresponds to variant dbSNP:rs796052127EnsemblClinVar.1
Natural variantiVAR_074661132G → D in HLD11. 1 PublicationCorresponds to variant dbSNP:rs201320592Ensembl.1
Natural variantiVAR_074662146C → R in HLD11. 1 PublicationCorresponds to variant dbSNP:rs796052125EnsemblClinVar.1
Natural variantiVAR_074663191R → Q in HLD11. 1 PublicationCorresponds to variant dbSNP:rs373046018EnsemblClinVar.1
Natural variantiVAR_074664262I → T in HLD11. 1 PublicationCorresponds to variant dbSNP:rs751006626Ensembl.1
Natural variantiVAR_074665295Missing in HLD11. 1 Publication1
Natural variantiVAR_074666324E → K in HLD11. 1 Publication1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi9533
GeneReviewsiPOLR1C
MalaCardsiPOLR1C
MIMi248390 phenotype
616494 phenotype
OpenTargetsiENSG00000171453
Orphaneti88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
861 Treacher-Collins syndrome
PharmGKBiPA134882004

Polymorphism and mutation databases

BioMutaiPOLR1C

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00001327392 – 346DNA-directed RNA polymerases I and III subunit RPAC1Add BLAST345

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei4PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO15160
MaxQBiO15160
PaxDbiO15160
PeptideAtlasiO15160
PRIDEiO15160
ProteomicsDBi48481
48482 [O15160-2]

2D gel databases

REPRODUCTION-2DPAGEiIPI00217386
SWISS-2DPAGEiO15160

PTM databases

iPTMnetiO15160
PhosphoSitePlusiO15160

Expressioni

Gene expression databases

BgeeiENSG00000171453 Expressed in 221 organ(s), highest expression level in secondary oocyte
CleanExiHS_POLR1C
HS_POLR1E
ExpressionAtlasiO15160 baseline and differential
GenevisibleiO15160 HS

Organism-specific databases

HPAiHPA031010

Interactioni

Subunit structurei

Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114909, 112 interactors
DIPiDIP-27587N
IntActiO15160, 130 interactors
MINTiO15160
STRINGi9606.ENSP00000361465

Structurei

3D structure databases

ProteinModelPortaliO15160
SMRiO15160
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1521 Eukaryota
COG0202 LUCA
GeneTreeiENSGT00550000075060
HOGENOMiHOG000230845
HOVERGENiHBG017743
InParanoidiO15160
KOiK03027
OMAiRGKDHAK
OrthoDBiEOG091G03FZ
PhylomeDBiO15160
TreeFamiTF103034

Family and domain databases

CDDicd07032 RNAP_I_II_AC40, 1 hit
Gene3Di2.170.120.12, 1 hit
InterProiView protein in InterPro
IPR001514 DNA-dir_RNA_pol_30-40kDasu_CS
IPR011262 DNA-dir_RNA_pol_insert
IPR011263 DNA-dir_RNA_pol_RpoA/D/Rpb3
IPR036603 RBP11-like
IPR033901 RNAPI/II_AC40
IPR036643 RNApol_insert_sf
PANTHERiPTHR11800:SF13 PTHR11800:SF13, 1 hit
PfamiView protein in Pfam
PF01000 RNA_pol_A_bac, 1 hit
PF01193 RNA_pol_L, 1 hit
SMARTiView protein in SMART
SM00662 RPOLD, 1 hit
SUPFAMiSSF55257 SSF55257, 1 hit
SSF56553 SSF56553, 1 hit
PROSITEiView protein in PROSITE
PS00446 RNA_POL_D_30KD, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15160-1) [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
MAASQAVEEM RSRVVLGEFG VRNVHTTDFP GNYSGYDDAW DQDRFEKNFR
60 70 80 90 100
VDVVHMDENS LEFDMVGIDA AIANAFRRIL LAEVPTMAVE KVLVYNNTSI
110 120 130 140 150
VQDEILAHRL GLIPIHADPR LFEYRNQGDE EGTEIDTLQF RLQVRCTRNP
160 170 180 190 200
HAAKDSSDPN ELYVNHKVYT RHMTWIPLGN QADLFPEGTI RPVHDDILIA
210 220 230 240 250
QLRPGQEIDL LMHCVKGIGK DHAKFSPVAT ASYRLLPDIT LLEPVEGEAA
260 270 280 290 300
EELSRCFSPG VIEVQEVQGK KVARVANPRL DTFSREIFRN EKLKKVVRLA
310 320 330 340
RVRDHYIFSV ESTGVLPPDV LVSEAIKVLM GKCRRFLDEL DAVQMD
Length:346
Mass (Da):39,250
Last modified:January 1, 1998 - v1
Checksum:iB7D558BC8F33D92E
GO
Isoform 2 (identifier: O15160-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     308-346: FSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD → CKKDLLAAVAHTCNPSTLGGQGEWITGSRERDHPG

Note: No experimental confirmation available.
Show »
Length:342
Mass (Da):38,647
Checksum:i9E2785123BB74D8B
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RDJ3D6RDJ3_HUMAN
DNA-directed RNA polymerases I and ...
POLR1C
124Annotation score:
E7EQB9E7EQB9_HUMAN
DNA-directed RNA polymerases I and ...
POLR1C
296Annotation score:
H0Y723H0Y723_HUMAN
DNA-directed RNA polymerases I and ...
POLR1C
140Annotation score:
A0A2R8YEZ4A0A2R8YEZ4_HUMAN
DNA-directed RNA polymerases I and ...
POLR1C
307Annotation score:
A0A2R8YEY5A0A2R8YEY5_HUMAN
DNA-directed RNA polymerases I and ...
POLR1C
291Annotation score:
A0A2R8Y5D3A0A2R8Y5D3_HUMAN
DNA-directed RNA polymerases I and ...
POLR1C
343Annotation score:
A0A2R8Y8D6A0A2R8Y8D6_HUMAN
DNA-directed RNA polymerases I and ...
POLR1C
151Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07465526T → I in HLD11. 1 PublicationCorresponds to variant dbSNP:rs796052126EnsemblClinVar.1
Natural variantiVAR_07465632N → I in HLD11; decreased localization to the nucleus and retained in the cytoplasm; loss of association with RNA polymerase III-transcribed genes; decreased association with RNA polymerase III complex; probably prevents RNA polymerase III complex assembly and activity. 1 PublicationCorresponds to variant dbSNP:rs796052124EnsemblClinVar.1
Natural variantiVAR_07465765M → V in HLD11. 1 PublicationCorresponds to variant dbSNP:rs141471029EnsemblClinVar.1
Natural variantiVAR_07465874N → S in HLD11; decreased localization to the nucleus and retained in the cytoplasm; loss of association with RNA polymerase III-transcribed genes; decreased association with RNA polymerase III complex; probably prevents RNA polymerase III complex assembly and activity. 1 PublicationCorresponds to variant dbSNP:rs371802902EnsemblClinVar.1
Natural variantiVAR_07465994V → A in HLD11. 1 Publication1
Natural variantiVAR_074660109R → H in HLD11. 1 PublicationCorresponds to variant dbSNP:rs796052127EnsemblClinVar.1
Natural variantiVAR_074661132G → D in HLD11. 1 PublicationCorresponds to variant dbSNP:rs201320592Ensembl.1
Natural variantiVAR_074662146C → R in HLD11. 1 PublicationCorresponds to variant dbSNP:rs796052125EnsemblClinVar.1
Natural variantiVAR_074663191R → Q in HLD11. 1 PublicationCorresponds to variant dbSNP:rs373046018EnsemblClinVar.1
Natural variantiVAR_074664262I → T in HLD11. 1 PublicationCorresponds to variant dbSNP:rs751006626Ensembl.1
Natural variantiVAR_064899279R → Q in TCS3; no effect on localization to the nucleus; no effect on association with RNA polymerase I and RNA polymerase III complexes. 2 PublicationsCorresponds to variant dbSNP:rs191582628EnsemblClinVar.1
Natural variantiVAR_064900279R → W in TCS3. 1 PublicationCorresponds to variant dbSNP:rs141156009EnsemblClinVar.1
Natural variantiVAR_074665295Missing in HLD11. 1 Publication1
Natural variantiVAR_074666324E → K in HLD11. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005913308 – 346FSVES…AVQMD → CKKDLLAAVAHTCNPSTLGG QGEWITGSRERDHPG in isoform 2. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF008442 mRNA Translation: AAC14354.1
AF047441 mRNA Translation: AAC39892.1
AL355802 Genomic DNA No translation available.
BC008863 mRNA Translation: AAH08863.1
CCDSiCCDS4900.1 [O15160-2]
CCDS4901.1 [O15160-1]
RefSeqiNP_001305805.1, NM_001318876.1 [O15160-2]
NP_976035.1, NM_203290.3 [O15160-1]
UniGeneiHs.743509

Genome annotation databases

EnsembliENST00000304004; ENSP00000307212; ENSG00000171453 [O15160-2]
ENST00000372389; ENSP00000361465; ENSG00000171453 [O15160-1]
ENST00000607635; ENSP00000496683; ENSG00000171453 [O15160-2]
ENST00000642195; ENSP00000496044; ENSG00000171453 [O15160-1]
GeneIDi9533
KEGGihsa:9533
UCSCiuc003ovn.4 human [O15160-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF008442 mRNA Translation: AAC14354.1
AF047441 mRNA Translation: AAC39892.1
AL355802 Genomic DNA No translation available.
BC008863 mRNA Translation: AAH08863.1
CCDSiCCDS4900.1 [O15160-2]
CCDS4901.1 [O15160-1]
RefSeqiNP_001305805.1, NM_001318876.1 [O15160-2]
NP_976035.1, NM_203290.3 [O15160-1]
UniGeneiHs.743509

3D structure databases

ProteinModelPortaliO15160
SMRiO15160
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114909, 112 interactors
DIPiDIP-27587N
IntActiO15160, 130 interactors
MINTiO15160
STRINGi9606.ENSP00000361465

PTM databases

iPTMnetiO15160
PhosphoSitePlusiO15160

Polymorphism and mutation databases

BioMutaiPOLR1C

2D gel databases

REPRODUCTION-2DPAGEiIPI00217386
SWISS-2DPAGEiO15160

Proteomic databases

EPDiO15160
MaxQBiO15160
PaxDbiO15160
PeptideAtlasiO15160
PRIDEiO15160
ProteomicsDBi48481
48482 [O15160-2]

Protocols and materials databases

DNASUi9533
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304004; ENSP00000307212; ENSG00000171453 [O15160-2]
ENST00000372389; ENSP00000361465; ENSG00000171453 [O15160-1]
ENST00000607635; ENSP00000496683; ENSG00000171453 [O15160-2]
ENST00000642195; ENSP00000496044; ENSG00000171453 [O15160-1]
GeneIDi9533
KEGGihsa:9533
UCSCiuc003ovn.4 human [O15160-1]

Organism-specific databases

CTDi9533
DisGeNETi9533
EuPathDBiHostDB:ENSG00000171453.17
GeneCardsiPOLR1C
GeneReviewsiPOLR1C
H-InvDBiHIX0005907
HGNCiHGNC:20194 POLR1C
HPAiHPA031010
MalaCardsiPOLR1C
MIMi248390 phenotype
610060 gene
616494 phenotype
neXtProtiNX_O15160
OpenTargetsiENSG00000171453
Orphaneti88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
861 Treacher-Collins syndrome
PharmGKBiPA134882004
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1521 Eukaryota
COG0202 LUCA
GeneTreeiENSGT00550000075060
HOGENOMiHOG000230845
HOVERGENiHBG017743
InParanoidiO15160
KOiK03027
OMAiRGKDHAK
OrthoDBiEOG091G03FZ
PhylomeDBiO15160
TreeFamiTF103034

Enzyme and pathway databases

ReactomeiR-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-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-73780 RNA Polymerase III Chain Elongation
R-HSA-73863 RNA Polymerase I Transcription Termination
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

GeneWikiiPOLR1C
GenomeRNAii9533
PROiPR:O15160
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171453 Expressed in 221 organ(s), highest expression level in secondary oocyte
CleanExiHS_POLR1C
HS_POLR1E
ExpressionAtlasiO15160 baseline and differential
GenevisibleiO15160 HS

Family and domain databases

CDDicd07032 RNAP_I_II_AC40, 1 hit
Gene3Di2.170.120.12, 1 hit
InterProiView protein in InterPro
IPR001514 DNA-dir_RNA_pol_30-40kDasu_CS
IPR011262 DNA-dir_RNA_pol_insert
IPR011263 DNA-dir_RNA_pol_RpoA/D/Rpb3
IPR036603 RBP11-like
IPR033901 RNAPI/II_AC40
IPR036643 RNApol_insert_sf
PANTHERiPTHR11800:SF13 PTHR11800:SF13, 1 hit
PfamiView protein in Pfam
PF01000 RNA_pol_A_bac, 1 hit
PF01193 RNA_pol_L, 1 hit
SMARTiView protein in SMART
SM00662 RPOLD, 1 hit
SUPFAMiSSF55257 SSF55257, 1 hit
SSF56553 SSF56553, 1 hit
PROSITEiView protein in PROSITE
PS00446 RNA_POL_D_30KD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRPAC1_HUMAN
AccessioniPrimary (citable) accession number: O15160
Secondary accession number(s): O75395, Q5JTE3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 193 of the entry and version 1 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, Direct protein sequencing, 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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