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Protein

DNA-directed RNA polymerase I subunit RPA49

Gene

POLR1E

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. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription

Enzyme and pathway databases

BioCyciZFISH:HS13656-MONOMER.
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 RPA49
Short name:
RNA polymerase I subunit A49
Alternative name(s):
DNA-directed RNA polymerase I subunit E
RNA polymerase I-associated factor 1
RNA polymerase I-associated factor 53
Gene namesi
Name:POLR1E
Synonyms:PAF53, PRAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:17631. POLR1E.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

DNA-directed RNA polymerase, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi64425.
OpenTargetsiENSG00000137054.
PharmGKBiPA142671136.

Polymorphism and mutation databases

BioMutaiPOLR1E.
DMDMi62901107.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000739561 – 481DNA-directed RNA polymerase I subunit RPA49Add BLAST481

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei97PhosphoserineCombined sources1
Modified residuei225PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9GZS1.
MaxQBiQ9GZS1.
PaxDbiQ9GZS1.
PeptideAtlasiQ9GZS1.
PRIDEiQ9GZS1.

2D gel databases

SWISS-2DPAGEQ9GZS1.

PTM databases

iPTMnetiQ9GZS1.
PhosphoSitePlusiQ9GZS1.

Expressioni

Gene expression databases

BgeeiENSG00000137054.
CleanExiHS_POLR1E.
ExpressionAtlasiQ9GZS1. baseline and differential.
GenevisibleiQ9GZS1. HS.

Organism-specific databases

HPAiHPA022527.
HPA052400.

Interactioni

Subunit structurei

Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (By similarity). Interacts with PAF49/CD3EAP. Also binds UBTF/UBF (By similarity).By similarity

Protein-protein interaction databases

BioGridi122173. 35 interactors.
DIPiDIP-27546N.
IntActiQ9GZS1. 12 interactors.
MINTiMINT-1137773.
STRINGi9606.ENSP00000367029.

Structurei

3D structure databases

ProteinModelPortaliQ9GZS1.
SMRiQ9GZS1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG4183. Eukaryota.
ENOG410XSWJ. LUCA.
GeneTreeiENSGT00390000018004.
HOGENOMiHOG000035116.
HOVERGENiHBG053490.
InParanoidiQ9GZS1.
KOiK03005.
OMAiRRMNRVG.
OrthoDBiEOG091G0YKY.
PhylomeDBiQ9GZS1.
TreeFamiTF331685.

Family and domain databases

InterProiIPR009668. RNA_pol-assoc_fac_A49-like.
[Graphical view]
PfamiPF06870. RNA_pol_I_A49. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9GZS1-1) [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
MYQASAVSLL PRDIPSCHSP SPGFSHLPTS SSQLAPDLLQ FPLGQDPSFL
60 70 80 90 100
AIPILTLPPS DSLVPPYIVW YIVWPSALIS FLGCTLTVQF SNGKLQSPGN
110 120 130 140 150
MRFTLYENKD STNPRKRNQR ILAAETDRLS YVGNNFGTGA LKCNTLCRHF
160 170 180 190 200
VGILNKTSGQ MEVYDAELFN MQPLFSDVSV ESELALESQT KTYREKMDSC
210 220 230 240 250
IEAFGTTKQK RALNTRRMNR VGNESLNRAV AKAAETIIDT KGVTALVSDA
260 270 280 290 300
IHNDLQDDSL YLPPCYDDAA KPEDVYKFED LLSPAEYEAL QSPSEAFRNV
310 320 330 340 350
TSEEILKMIE ENSHCTFVIE ALKSLPSDVE SRDRQARCIW FLDTLIKFRA
360 370 380 390 400
HRVVKRKSAL GPGVPHIINT KLLKHFTCLT YNNGRLRNLI SDSMKAKITA
410 420 430 440 450
YVIILALHIH DFQIDLTVLQ RDLKLSEKRM MEIAKAMRLK ISKRRVSVAA
460 470 480
GSEEDHKLGT LSLPLPPAQT SDRLAKRRKI T
Length:481
Mass (Da):53,962
Last modified:April 26, 2005 - v2
Checksum:i8E43E238D0C669CB
GO
Isoform 2 (identifier: Q9GZS1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: MYQASAVSLL...LISFLGCTLT → MAAEVLPSARWQYCGAPDGSQRAVL

Show »
Length:419
Mass (Da):47,260
Checksum:iAB9EF3B9E8230053
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti56T → A in BAC03629 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022372254D → H.Corresponds to variant rs7863488dbSNPEnsembl.1
Natural variantiVAR_022373418V → M.Corresponds to variant rs7867180dbSNPEnsembl.1
Natural variantiVAR_022374445R → K.1 PublicationCorresponds to variant rs10814571dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0135351 – 87MYQAS…GCTLT → MAAEVLPSARWQYCGAPDGS QRAVL in isoform 2. 3 PublicationsAdd BLAST87

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023452 mRNA. Translation: BAB14579.1.
AK024032 mRNA. Translation: BAB14791.1.
AK091294 mRNA. Translation: BAC03629.1.
CR457313 mRNA. Translation: CAG33594.1.
AL158156 Genomic DNA. Translation: CAH73518.1.
AL158156 Genomic DNA. Translation: CAH73519.1.
BC001337 mRNA. Translation: AAH01337.1.
BC014331 mRNA. Translation: AAH14331.1.
CCDSiCCDS6611.1. [Q9GZS1-2]
RefSeqiNP_001269695.1. NM_001282766.1.
NP_071935.1. NM_022490.2. [Q9GZS1-2]
XP_005251604.1. XM_005251547.2. [Q9GZS1-1]
UniGeneiHs.591087.
Hs.733126.

Genome annotation databases

EnsembliENST00000377792; ENSP00000367023; ENSG00000137054. [Q9GZS1-1]
ENST00000377798; ENSP00000367029; ENSG00000137054. [Q9GZS1-2]
GeneIDi64425.
KEGGihsa:64425.
UCSCiuc003zzy.2. human. [Q9GZS1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023452 mRNA. Translation: BAB14579.1.
AK024032 mRNA. Translation: BAB14791.1.
AK091294 mRNA. Translation: BAC03629.1.
CR457313 mRNA. Translation: CAG33594.1.
AL158156 Genomic DNA. Translation: CAH73518.1.
AL158156 Genomic DNA. Translation: CAH73519.1.
BC001337 mRNA. Translation: AAH01337.1.
BC014331 mRNA. Translation: AAH14331.1.
CCDSiCCDS6611.1. [Q9GZS1-2]
RefSeqiNP_001269695.1. NM_001282766.1.
NP_071935.1. NM_022490.2. [Q9GZS1-2]
XP_005251604.1. XM_005251547.2. [Q9GZS1-1]
UniGeneiHs.591087.
Hs.733126.

3D structure databases

ProteinModelPortaliQ9GZS1.
SMRiQ9GZS1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122173. 35 interactors.
DIPiDIP-27546N.
IntActiQ9GZS1. 12 interactors.
MINTiMINT-1137773.
STRINGi9606.ENSP00000367029.

PTM databases

iPTMnetiQ9GZS1.
PhosphoSitePlusiQ9GZS1.

Polymorphism and mutation databases

BioMutaiPOLR1E.
DMDMi62901107.

2D gel databases

SWISS-2DPAGEQ9GZS1.

Proteomic databases

EPDiQ9GZS1.
MaxQBiQ9GZS1.
PaxDbiQ9GZS1.
PeptideAtlasiQ9GZS1.
PRIDEiQ9GZS1.

Protocols and materials databases

DNASUi64425.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377792; ENSP00000367023; ENSG00000137054. [Q9GZS1-1]
ENST00000377798; ENSP00000367029; ENSG00000137054. [Q9GZS1-2]
GeneIDi64425.
KEGGihsa:64425.
UCSCiuc003zzy.2. human. [Q9GZS1-1]

Organism-specific databases

CTDi64425.
DisGeNETi64425.
GeneCardsiPOLR1E.
HGNCiHGNC:17631. POLR1E.
HPAiHPA022527.
HPA052400.
neXtProtiNX_Q9GZS1.
OpenTargetsiENSG00000137054.
PharmGKBiPA142671136.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4183. Eukaryota.
ENOG410XSWJ. LUCA.
GeneTreeiENSGT00390000018004.
HOGENOMiHOG000035116.
HOVERGENiHBG053490.
InParanoidiQ9GZS1.
KOiK03005.
OMAiRRMNRVG.
OrthoDBiEOG091G0YKY.
PhylomeDBiQ9GZS1.
TreeFamiTF331685.

Enzyme and pathway databases

BioCyciZFISH:HS13656-MONOMER.
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

GeneWikiiPOLR1E.
GenomeRNAii64425.
PROiQ9GZS1.

Gene expression databases

BgeeiENSG00000137054.
CleanExiHS_POLR1E.
ExpressionAtlasiQ9GZS1. baseline and differential.
GenevisibleiQ9GZS1. HS.

Family and domain databases

InterProiIPR009668. RNA_pol-assoc_fac_A49-like.
[Graphical view]
PfamiPF06870. RNA_pol_I_A49. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRPA49_HUMAN
AccessioniPrimary (citable) accession number: Q9GZS1
Secondary accession number(s): Q5VZT3, Q8NBA9, Q96L20
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 26, 2005
Last modified: November 2, 2016
This is version 136 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 9
    Human chromosome 9: 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. 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.