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Protein

Pescadillo homolog

Gene

PES1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.UniRule annotation3 Publications

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • ribonucleoprotein complex binding Source: UniProtKB-HAMAP
  • RNA binding Source: GO_Central

GO - Biological processi

  • cell proliferation Source: UniProtKB
  • maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
  • maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
  • nucleolus organization Source: Ensembl
  • protein localization to organelle Source: Ensembl
  • regulation of cell cycle Source: UniProtKB
  • ribosomal large subunit biogenesis Source: UniProtKB
  • rRNA processing Source: MGI
Complete GO annotation...

Keywords - Biological processi

Ribosome biogenesis, rRNA processing

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100029-MONOMER.
ReactomeiR-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.
SignaLinkiO00541.

Names & Taxonomyi

Protein namesi
Recommended name:
Pescadillo homologUniRule annotation
Gene namesi
Name:PES1UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:8848. PES1.

Subcellular locationi

  • Nucleusnucleolus
  • Nucleusnucleoplasm
  • Chromosome

  • Note: Appears to localize to the periphery of metaphase chromosomes during mitosis and to the prenucleolar bodies that form in mitotic cells prior to the actual nucleoli.UniRule annotation

GO - Cellular componenti

  • condensed chromosome Source: Ensembl
  • cytoplasm Source: HPA
  • membrane Source: UniProtKB
  • nucleolus Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • nucleus Source: HPA
  • PeBoW complex Source: UniProtKB
  • preribosome, large subunit precursor Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi327F → R: Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA. 1 Publication1
Mutagenesisi347I → R: Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA. 1 Publication1
Mutagenesisi380R → W: Slightly impairs nucleolar localization. 1 Publication1
Mutagenesisi397W → R: Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA. 1 Publication1

Organism-specific databases

DisGeNETi23481.
OpenTargetsiENSG00000100029.
PharmGKBiPA33190.

Polymorphism and mutation databases

BioMutaiPES1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001861881 – 588Pescadillo homologAdd BLAST588

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei98N6-acetyllysineCombined sources1
Cross-linki517Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki517Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Sumoylated.

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiO00541.
MaxQBiO00541.
PaxDbiO00541.
PeptideAtlasiO00541.
PRIDEiO00541.

2D gel databases

SWISS-2DPAGEO00541.

PTM databases

iPTMnetiO00541.
PhosphoSitePlusiO00541.
SwissPalmiO00541.

Expressioni

Tissue specificityi

Significant levels are detected in a variety of cancer cell lines, including glioblastoma, breast carcinoma, colon carcinoma and cervical carcinoma cells. Levels are abnormally elevated in malignant tumors of astrocytic origin.

Inductioni

By MYC.1 Publication

Gene expression databases

BgeeiENSG00000100029.
CleanExiHS_PES1.
ExpressionAtlasiO00541. baseline and differential.
GenevisibleiO00541. HS.

Organism-specific databases

HPAiHPA040210.
HPA062439.

Interactioni

Subunit structurei

Component of the PeBoW complex, composed of BOP1, PES1 and WDR12 (PubMed:16043514, PubMed:16738141, PubMed:17189298, PubMed:17353269). The complex is held together by BOP1, which interacts with PES1 via its N-terminal domain and with WDR12 via a high-affinity interaction between the seven-bladed beta-propeller domains of the 2 proteins. The PeBoW complex associates with the 66S pre-ribosome (By similarity). The PeBoW complex also associates with DDX27, PES1 interacts directly with DDX27 (PubMed:25825154). Interacts with IRS1 and UBTF. May interact with MAP1B (By similarity).UniRule annotationBy similarity5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BOP1Q141373EBI-1053271,EBI-1050828
FOXM1Q080502EBI-1053271,EBI-866480

Protein-protein interaction databases

BioGridi117040. 121 interactors.
IntActiO00541. 12 interactors.
MINTiMINT-2997852.
STRINGi9606.ENSP00000346725.

Structurei

Secondary structure

1588
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi331 – 333Combined sources3
Beta strandi336 – 338Combined sources3
Helixi340 – 349Combined sources10
Beta strandi353 – 355Combined sources3
Turni358 – 360Combined sources3
Beta strandi375 – 377Combined sources3
Turni381 – 383Combined sources3
Beta strandi390 – 393Combined sources4
Helixi396 – 404Combined sources9
Turni410 – 412Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EP8NMR-A322-414[»]
ProteinModelPortaliO00541.
SMRiO00541.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00541.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini322 – 415BRCTUniRule annotationAdd BLAST94

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 257Sufficient for nucleolar localizationAdd BLAST257
Regioni1 – 54Required for 28S ribosomal RNA processingAdd BLAST54
Regioni306 – 415Sufficient for interaction with MAP1BBy similarityAdd BLAST110
Regioni539 – 588Required for 28S ribosomal RNA processingAdd BLAST50

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi456 – 531Glu-richAdd BLAST76

Sequence similaritiesi

Belongs to the pescadillo family.UniRule annotation
Contains 1 BRCT domain.UniRule annotation

Phylogenomic databases

eggNOGiKOG2481. Eukaryota.
COG5163. LUCA.
GeneTreeiENSGT00390000002626.
HOGENOMiHOG000006022.
HOVERGENiHBG023409.
InParanoidiO00541.
KOiK14843.
OMAiHVIRERY.
OrthoDBiEOG091G05ZE.
PhylomeDBiO00541.
TreeFamiTF300671.

Family and domain databases

CDDicd00027. BRCT. 1 hit.
Gene3Di3.40.50.10190. 1 hit.
HAMAPiMF_03028. Pescadillo. 1 hit.
InterProiIPR001357. BRCT_dom.
IPR010613. PES.
[Graphical view]
PfamiPF16589. BRCT_2. 1 hit.
PF06732. Pescadillo_N. 1 hit.
[Graphical view]
SMARTiSM00292. BRCT. 1 hit.
[Graphical view]
SUPFAMiSSF52113. SSF52113. 1 hit.
PROSITEiPS50172. BRCT. 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: O00541-1) [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
MGGLEKKKYE RGSATNYITR NKARKKLQLS LADFRRLCIL KGIYPHEPKH
60 70 80 90 100
KKKVNKGSTA ARTFYLIKDI RFLLHEPIVN KFREYKVFVR KLRKAYGKSE
110 120 130 140 150
WNTVERLKDN KPNYKLDHII KERYPTFIDA LRDLDDALSM CFLFSTFPRT
160 170 180 190 200
GKCHVQTIQL CRRLTVEFMH YIIAARALRK VFLSIKGIYY QAEVLGQPIV
210 220 230 240 250
WITPYAFSHD HPTDVDYRVM ATFTEFYTTL LGFVNFRLYQ LLNLHYPPKL
260 270 280 290 300
EGQAQAEAKA GEGTYALDSE SCMEKLAALS ASLARVVVPA TEEEAEVDEF
310 320 330 340 350
PTDGEMSAQE EDRRKELEAQ EKHKKLFEGL KFFLNREVPR EALAFIIRSF
360 370 380 390 400
GGEVSWDKSL CIGATYDVTD SRITHQIVDR PGQQTSVIGR CYVQPQWVFD
410 420 430 440 450
SVNARLLLPV AEYFSGVQLP PHLSPFVTEK EGDYVPPEKL KLLALQRGED
460 470 480 490 500
PGNLNESEEE EEEDDNNEGD GDEEGENEEE EEDAEAGSEK EEEARLAALE
510 520 530 540 550
EQRMEGKKPR VMAGTLKLED KQRLAQEEES EAKRLAIMMM KKREKYLYQK
560 570 580
IMFGKRRKIR EANKLAEKRK AHDEAVRSEK KAKKARPE
Length:588
Mass (Da):68,003
Last modified:July 1, 1997 - v1
Checksum:iCB6201D6E34D82B1
GO
Isoform 2 (identifier: O00541-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     306-310: Missing.

Show »
Length:583
Mass (Da):67,456
Checksum:i89BEC8BB4328F707
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034375264T → S.Corresponds to variant rs42942dbSNPEnsembl.1
Natural variantiVAR_053570370D → H.Corresponds to variant rs11541876dbSNPEnsembl.1
Natural variantiVAR_053571411A → T.Corresponds to variant rs34123894dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013023306 – 310Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U78310 mRNA. Translation: AAB61140.1.
CR456539 mRNA. Translation: CAG30425.1.
AC005006 Genomic DNA. No translation available.
BC032489 mRNA. Translation: AAH32489.1.
CCDSiCCDS13880.1. [O00541-1]
CCDS58802.1. [O00541-2]
RefSeqiNP_001230154.1. NM_001243225.1. [O00541-2]
NP_055118.1. NM_014303.3. [O00541-1]
UniGeneiHs.517543.

Genome annotation databases

EnsembliENST00000335214; ENSP00000334612; ENSG00000100029. [O00541-2]
ENST00000354694; ENSP00000346725; ENSG00000100029. [O00541-1]
GeneIDi23481.
KEGGihsa:23481.
UCSCiuc003aij.2. human. [O00541-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U78310 mRNA. Translation: AAB61140.1.
CR456539 mRNA. Translation: CAG30425.1.
AC005006 Genomic DNA. No translation available.
BC032489 mRNA. Translation: AAH32489.1.
CCDSiCCDS13880.1. [O00541-1]
CCDS58802.1. [O00541-2]
RefSeqiNP_001230154.1. NM_001243225.1. [O00541-2]
NP_055118.1. NM_014303.3. [O00541-1]
UniGeneiHs.517543.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EP8NMR-A322-414[»]
ProteinModelPortaliO00541.
SMRiO00541.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117040. 121 interactors.
IntActiO00541. 12 interactors.
MINTiMINT-2997852.
STRINGi9606.ENSP00000346725.

PTM databases

iPTMnetiO00541.
PhosphoSitePlusiO00541.
SwissPalmiO00541.

Polymorphism and mutation databases

BioMutaiPES1.

2D gel databases

SWISS-2DPAGEO00541.

Proteomic databases

EPDiO00541.
MaxQBiO00541.
PaxDbiO00541.
PeptideAtlasiO00541.
PRIDEiO00541.

Protocols and materials databases

DNASUi23481.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335214; ENSP00000334612; ENSG00000100029. [O00541-2]
ENST00000354694; ENSP00000346725; ENSG00000100029. [O00541-1]
GeneIDi23481.
KEGGihsa:23481.
UCSCiuc003aij.2. human. [O00541-1]

Organism-specific databases

CTDi23481.
DisGeNETi23481.
GeneCardsiPES1.
HGNCiHGNC:8848. PES1.
HPAiHPA040210.
HPA062439.
MIMi605819. gene.
neXtProtiNX_O00541.
OpenTargetsiENSG00000100029.
PharmGKBiPA33190.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2481. Eukaryota.
COG5163. LUCA.
GeneTreeiENSGT00390000002626.
HOGENOMiHOG000006022.
HOVERGENiHBG023409.
InParanoidiO00541.
KOiK14843.
OMAiHVIRERY.
OrthoDBiEOG091G05ZE.
PhylomeDBiO00541.
TreeFamiTF300671.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100029-MONOMER.
ReactomeiR-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.
SignaLinkiO00541.

Miscellaneous databases

ChiTaRSiPES1. human.
EvolutionaryTraceiO00541.
GeneWikiiPES1.
GenomeRNAii23481.
PROiO00541.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100029.
CleanExiHS_PES1.
ExpressionAtlasiO00541. baseline and differential.
GenevisibleiO00541. HS.

Family and domain databases

CDDicd00027. BRCT. 1 hit.
Gene3Di3.40.50.10190. 1 hit.
HAMAPiMF_03028. Pescadillo. 1 hit.
InterProiIPR001357. BRCT_dom.
IPR010613. PES.
[Graphical view]
PfamiPF16589. BRCT_2. 1 hit.
PF06732. Pescadillo_N. 1 hit.
[Graphical view]
SMARTiSM00292. BRCT. 1 hit.
[Graphical view]
SUPFAMiSSF52113. SSF52113. 1 hit.
PROSITEiPS50172. BRCT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPESC_HUMAN
AccessioniPrimary (citable) accession number: O00541
Secondary accession number(s): Q6IC29
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: July 1, 1997
Last modified: November 30, 2016
This is version 153 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.