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Protein

Pescadillo homolog

Gene

PES1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Biological processRibosome biogenesis, rRNA processing

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000100029.17
HGNCiHGNC:8848 PES1
MIMi605819 gene
neXtProtiNX_O00541

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

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); alternateCombined sources
Cross-linki517Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources

Post-translational modificationi

Sumoylated.

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiO00541
MaxQBiO00541
PaxDbiO00541
PeptideAtlasiO00541
PRIDEiO00541
ProteomicsDBi47963
47964 [O00541-2]

2D gel databases

SWISS-2DPAGEiO00541

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 Expressed in 204 organ(s), highest expression level in left coronary artery
CleanExiHS_PES1
ExpressionAtlasiO00541 baseline and differential
GenevisibleiO00541 HS

Organism-specific databases

HPAiHPA040210
HPA062439
HPA066670

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

Protein-protein interaction databases

BioGridi117040, 124 interactors
CORUMiO00541
IntActiO00541, 20 interactors
MINTiO00541
STRINGi9606.ENSP00000346725

Structurei

Secondary structure

1588
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Phylogenomic databases

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

Family and domain databases

CDDicd00027 BRCT, 1 hit
Gene3Di3.40.50.10190, 1 hit
HAMAPiMF_03028 Pescadillo, 1 hit
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR010613 PES
PANTHERiPTHR12221 PTHR12221, 1 hit
PfamiView protein in Pfam
PF16589 BRCT_2, 1 hit
PF06732 Pescadillo_N, 1 hit
SMARTiView protein in SMART
SM00292 BRCT, 1 hit
SUPFAMiSSF52113 SSF52113, 1 hit
PROSITEiView protein in PROSITE
PS50172 BRCT, 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 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MCF9B5MCF9_HUMAN
Pescadillo homolog
PES1
571Annotation score:
B3KXD6B3KXD6_HUMAN
Pescadillo homolog 1, containing BR...
PES1 hCG_2010949
449Annotation score:
H7C267H7C267_HUMAN
Pescadillo homolog
PES1
194Annotation score:
H7BYY8H7BYY8_HUMAN
Pescadillo homolog
PES1
135Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034375264T → S. Corresponds to variant dbSNP:rs42942Ensembl.1
Natural variantiVAR_053570370D → H. Corresponds to variant dbSNP:rs11541876Ensembl.1
Natural variantiVAR_053571411A → T. Corresponds to variant dbSNP:rs34123894Ensembl.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

Similar proteinsi

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, 124 interactors
CORUMiO00541
IntActiO00541, 20 interactors
MINTiO00541
STRINGi9606.ENSP00000346725

PTM databases

iPTMnetiO00541
PhosphoSitePlusiO00541
SwissPalmiO00541

Polymorphism and mutation databases

BioMutaiPES1

2D gel databases

SWISS-2DPAGEiO00541

Proteomic databases

EPDiO00541
MaxQBiO00541
PaxDbiO00541
PeptideAtlasiO00541
PRIDEiO00541
ProteomicsDBi47963
47964 [O00541-2]

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
EuPathDBiHostDB:ENSG00000100029.17
GeneCardsiPES1
HGNCiHGNC:8848 PES1
HPAiHPA040210
HPA062439
HPA066670
MIMi605819 gene
neXtProtiNX_O00541
OpenTargetsiENSG00000100029
PharmGKBiPA33190
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
SignaLinkiO00541

Miscellaneous databases

ChiTaRSiPES1 human
EvolutionaryTraceiO00541
GeneWikiiPES1
GenomeRNAii23481
PROiPR:O00541
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100029 Expressed in 204 organ(s), highest expression level in left coronary artery
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
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR010613 PES
PANTHERiPTHR12221 PTHR12221, 1 hit
PfamiView protein in Pfam
PF16589 BRCT_2, 1 hit
PF06732 Pescadillo_N, 1 hit
SMARTiView protein in SMART
SM00292 BRCT, 1 hit
SUPFAMiSSF52113 SSF52113, 1 hit
PROSITEiView protein in PROSITE
PS50172 BRCT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPESC_HUMAN
AccessioniPrimary (citable) accession number: O00541
Secondary accession number(s): Q6IC29
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: July 1, 1997
Last modified: October 10, 2018
This is version 167 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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