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Protein

DNA-directed RNA polymerase I subunit RPA49

Gene

POLR1E

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. 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

Keywordsi

Biological processTranscription

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 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

EuPathDBiHostDB:ENSG00000137054.15
HGNCiHGNC:17631 POLR1E
neXtProtiNX_Q9GZS1

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

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-2DPAGEiQ9GZS1

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi12217339 interactors.
CORUMiQ9GZS1
DIPiDIP-27546N
IntActiQ9GZS1 29 interactors.
MINTiQ9GZS1
STRINGi9606.ENSP00000367029

Structurei

3D structure databases

ProteinModelPortaliQ9GZS1
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

InterProiView protein in InterPro
IPR009668 RNA_pol-assoc_fac_A49-like
PANTHERiPTHR14440 PTHR14440, 1 hit
PfamiView protein in Pfam
PF06870 RNA_pol_I_A49, 1 hit

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 dbSNP:rs7863488Ensembl.1
Natural variantiVAR_022373418V → M. Corresponds to variant dbSNP:rs7867180Ensembl.1
Natural variantiVAR_022374445R → K1 PublicationCorresponds to variant dbSNP:rs10814571Ensembl.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiRPA49_HUMAN
AccessioniPrimary (citable) accession number: Q9GZS1
Secondary accession number(s): Q5VZT3, Q8NBA9, Q96L20
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 26, 2005
Last modified: April 25, 2018
This is version 147 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