PUDP (pseudouridine 5-phosphatase)

2015-09-01  

Identity

HGNC
PUDP
LOCATION
Xp22.31
LOCUSID
8226
ALIAS
DXF68S1E,FAM16AX,GS1,HDHD1,HDHD1A

Other Information

Locus ID:

NCBI: 8226
MIM: 306480
HGNC: 16818
Ensembl: ENSG00000130021

Variants:

dbSNP: 8226
ClinVar: 8226
TCGA: ENSG00000130021
COSMIC: PUDP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130021ENST00000381077Q08623
ENSG00000130021ENST00000412827Q08623
ENSG00000130021ENST00000424830Q08623
ENSG00000130021ENST00000486446Q08623
ENSG00000130021ENST00000486446E7EVH9
ENSG00000130021ENST00000655425A0A590UJH7

Expression (GTEx)

0
5
10
15
20
25
30
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
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine salvage reactionsREACTOMER-HSA-73614

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
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
378952742023STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.1
378952742023STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.1
207226312010HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.20
207226312010HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.20

Citation

Dessen P

PUDP (pseudouridine 5-phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2015-09-01

Online version: http://atlasgeneticsoncology.org/gene/77804/pudp-(pseudouridine-5-phosphatase)