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Protein

DNA-directed RNA polymerases I and III subunit RPAC2

Gene

POLR1D

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 core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively.

Caution

Contrary to isoform 2, isoform 1 contains an RNA polymerase domain and has DNA-dependent RNA polymerase function. Synteny studies in vertebrates suggest that this isoform has been created by a mammalian-specific retrotransposition event of an ancestral gene which has been lost later on in this lineage.Curated

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTranscription

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-directed RNA polymerases I and III subunit RPAC2
Short name:
RNA polymerases I and III subunit AC2
Alternative name(s):
AC19
DNA-directed RNA polymerase I subunit D
RNA polymerase I 16 kDa subunit
Short name:
RPA16
RPC16
hRPA19
Gene namesi
Name:POLR1D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:20422 POLR1D
MIMi613715 gene
neXtProtiNX_P0DPB6

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 2 (TCS2)1 Publication
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:613717
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06489247E → K in TCS2. 1 PublicationCorresponds to variant dbSNP:rs767196650Ensembl.1
Natural variantiVAR_06489350T → I in TCS2. 1 Publication1
Natural variantiVAR_06489451L → R in TCS2. 1 Publication1
Natural variantiVAR_06489552G → E in TCS2. 1 Publication1
Natural variantiVAR_06489656R → C in TCS2. 1 PublicationCorresponds to variant dbSNP:rs1014369151Ensembl.1
Natural variantiVAR_06489782L → S in TCS2. 1 Publication1
Natural variantiVAR_06489899G → S in TCS2. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiPOLR1D
MIMi613717 phenotype
OpenTargetsiENSG00000186184

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001493161 – 133DNA-directed RNA polymerases I and III subunit RPAC2Add BLAST133

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

PRIDEiP0DPB6

2D gel databases

SWISS-2DPAGEiP0DPB6

Expressioni

Gene expression databases

ExpressionAtlasiP0DPB6 baseline and differential

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.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
POLR1CO1516011EBI-359498,EBI-1055079

GO - Molecular functioni

Protein-protein interaction databases

IntActiP0DPB6, 16 interactors
MINTiP0DPB6

Structurei

3D structure databases

SMRiP0DPB6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

GeneTreeiENSGT00550000075160
KOiK03020
OMAiSEPKMNI

Family and domain databases

CDDicd07029 RNAP_I_III_AC19, 1 hit
Gene3Di3.30.1360.10, 1 hit
InterProiView protein in InterPro
IPR036603 RBP11-like
IPR009025 RBP11-like_dimer
IPR008193 RNA_pol_Rpb11_13-16kDa_CS
IPR033898 RNAP_AC19
PfamiView protein in Pfam
PF13656 RNA_pol_L_2, 1 hit
SUPFAMiSSF55257 SSF55257, 1 hit
PROSITEiView protein in PROSITE
PS01154 RNA_POL_L_13KD, 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P0DPB6-1) [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
MEEDQELERK ISGLKTSMAE GERKTALEMV QAAGTDRHCV TFVLHEEDHT
60 70 80 90 100
LGNSLRYMIM KNPEVEFCGY TTTHPSESKI NLRIQTRGTL PAVEPFQRGL
110 120 130
NELMNVCQHV LDKFEASIKD YKDQKASRNE STF
Length:133
Mass (Da):15,237
Last modified:November 22, 2017 - v1
Checksum:i715DAEF2B22B1C76
GO
Isoform 2 (identifier: P0DPB5-1) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry P0DPB5.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:122
Mass (Da):14,332
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0R4J2F3A0A0R4J2F3_HUMAN
Protein POLR1D, isoform 2
POLR1D
116Annotation score:
Q7Z776Q7Z776_HUMAN
POLR1D protein
POLR1D
33Annotation score:
A0A087X0U2A0A087X0U2_HUMAN
HCG2020048, isoform CRA_c
POLR1D hCG_2020048
42Annotation score:
A0A1B0GUZ5A0A1B0GUZ5_HUMAN
Protein POLR1D, isoform 2
POLR1D
46Annotation score:
A0A087WTY1A0A087WTY1_HUMAN
Protein POLR1D, isoform 2
POLR1D
94Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06489247E → K in TCS2. 1 PublicationCorresponds to variant dbSNP:rs767196650Ensembl.1
Natural variantiVAR_06489350T → I in TCS2. 1 Publication1
Natural variantiVAR_06489451L → R in TCS2. 1 Publication1
Natural variantiVAR_06489552G → E in TCS2. 1 Publication1
Natural variantiVAR_06489656R → C in TCS2. 1 PublicationCorresponds to variant dbSNP:rs1014369151Ensembl.1
Natural variantiVAR_06489782L → S in TCS2. 1 Publication1
Natural variantiVAR_06489899G → S in TCS2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077044 mRNA Translation: AAD27777.1
AL136439 Genomic DNA No translation available.
BC000889 mRNA Translation: AAH00889.1
CCDSiCCDS9325.1
RefSeqiNP_057056.1, NM_015972.3 [P0DPB6-1]
XP_005266469.1, XM_005266412.1 [P0DPB6-1]
UniGeneiHs.507584
Hs.735744

Genome annotation databases

EnsembliENST00000302979; ENSP00000302478; ENSG00000186184 [P0DPB6-1]
ENST00000647448; ENSP00000495898; ENSG00000186184 [P0DPB6-1]
GeneIDi51082
KEGGihsa:51082

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077044 mRNA Translation: AAD27777.1
AL136439 Genomic DNA No translation available.
BC000889 mRNA Translation: AAH00889.1
CCDSiCCDS9325.1
RefSeqiNP_057056.1, NM_015972.3 [P0DPB6-1]
XP_005266469.1, XM_005266412.1 [P0DPB6-1]
UniGeneiHs.507584
Hs.735744

3D structure databases

SMRiP0DPB6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP0DPB6, 16 interactors
MINTiP0DPB6

2D gel databases

SWISS-2DPAGEiP0DPB6

Proteomic databases

PRIDEiP0DPB6

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302979; ENSP00000302478; ENSG00000186184 [P0DPB6-1]
ENST00000647448; ENSP00000495898; ENSG00000186184 [P0DPB6-1]
GeneIDi51082
KEGGihsa:51082

Organism-specific databases

CTDi51082
GeneCardsiPOLR1D
HGNCiHGNC:20422 POLR1D
MalaCardsiPOLR1D
MIMi613715 gene
613717 phenotype
neXtProtiNX_P0DPB6
OpenTargetsiENSG00000186184
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00550000075160
KOiK03020
OMAiSEPKMNI

Miscellaneous databases

ChiTaRSiPOLR1D human
SOURCEiSearch...

Gene expression databases

ExpressionAtlasiP0DPB6 baseline and differential

Family and domain databases

CDDicd07029 RNAP_I_III_AC19, 1 hit
Gene3Di3.30.1360.10, 1 hit
InterProiView protein in InterPro
IPR036603 RBP11-like
IPR009025 RBP11-like_dimer
IPR008193 RNA_pol_Rpb11_13-16kDa_CS
IPR033898 RNAP_AC19
PfamiView protein in Pfam
PF13656 RNA_pol_L_2, 1 hit
SUPFAMiSSF55257 SSF55257, 1 hit
PROSITEiView protein in PROSITE
PS01154 RNA_POL_L_13KD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRPAC2_HUMAN
AccessioniPrimary (citable) accession number: P0DPB6
Secondary accession number(s): Q5TBX2, Q96BR3, Q9Y2S0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2017
Last sequence update: November 22, 2017
Last modified: November 7, 2018
This is version 10 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 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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