PES1 (pescadillo ribosomal biogenesis factor 1)

2003-02-01  

Identity

HGNC
PES1
LOCATION
22q12.2
LOCUSID
23481
ALIAS
NOP7,PES
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23481
MIM: 605819
HGNC: 8848
Ensembl: ENSG00000100029

Variants:

dbSNP: 23481
ClinVar: 23481
TCGA: ENSG00000100029
COSMIC: PES1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100029ENST00000335214O00541
ENSG00000100029ENST00000354694O00541
ENSG00000100029ENST00000354694B2RDF2
ENSG00000100029ENST00000402281B3KXD6
ENSG00000100029ENST00000402284B5MCF9
ENSG00000100029ENST00000405677B3KXD6
ENSG00000100029ENST00000406208H7BYY8
ENSG00000100029ENST00000441668H7C267

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
160435142005Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.74
173532692007Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.46
154677612004Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability.25
228202892012PES1 promotes breast cancer by differentially regulating ERα and ERβ.22
197649982009Down-regulation of pescadillo inhibits proliferation and tumorigenicity of breast cancer cells.20
228600982012Transcriptional regulation of PES1 expression by c-Jun in colon cancer.13
152737282004Role of pescadillo in the transformation and immortalization of mammalian cells.8
200119732009B23 interacts with PES1 and is involved in nucleolar localization of PES1.7
258251542015DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex.7
274096672016SUMOylation of PES1 upregulates its stability and function via inhibiting its ubiquitination.7

Citation

Dessen P

PES1 (pescadillo ribosomal biogenesis factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41692/pes1