UPB1 (beta-ureidopropionase 1)

2019-04-01  

Identity

HGNC
UPB1
LOCATION
22q11.23
LOCUSID
51733
ALIAS
BUP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51733
MIM: 606673
HGNC: 16297
Ensembl: ENSG00000100024

Variants:

dbSNP: 51733
ClinVar: 51733
TCGA: ENSG00000100024
COSMIC: UPB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100024ENST00000326010Q9UBR1
ENSG00000100024ENST00000326010A0A024R1H3
ENSG00000100024ENST00000382760Q6AHZ8
ENSG00000100024ENST00000415388F8WC94

Expression (GTEx)

0
10
20
30
40
50
60
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
Pyrimidine metabolismKEGGko00240
beta-Alanine metabolismKEGGko00410
Pantothenate and CoA biosynthesisKEGGko00770
Drug metabolism - other enzymesKEGGko00983
Pyrimidine metabolismKEGGhsa00240
beta-Alanine metabolismKEGGhsa00410
Pantothenate and CoA biosynthesisKEGGhsa00770
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Pyrimidine degradation, uracil => beta-alanine, thymine => 3-aminoisobutanoateKEGGM00046
Pyrimidine degradation, uracil => beta-alanine, thymine => 3-aminoisobutanoateKEGGhsa_M00046
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine catabolismREACTOMER-HSA-73621

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
153854432004beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
180754672007Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism.7
225254022012ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.7
182167192008Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism.5
245263882014Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].4
232384792012Contribution of the β-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity.3
252364662014Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.3
243285612013Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.2

Citation

Dessen P

UPB1 (beta-ureidopropionase 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57807/upb1