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
378593332024Low UPB1 Level Correlates With Poor Prognosis in Lung Adenocarcinoma.0
378593332024Low UPB1 Level Correlates With Poor Prognosis in Lung Adenocarcinoma.0
381366342023The Allosteric Regulation of Β-Ureidopropionase Depends on Fine-Tuned Stability of Active-Site Loops and Subunit Interfaces.0
381366342023The Allosteric Regulation of Β-Ureidopropionase Depends on Fine-Tuned Stability of Active-Site Loops and Subunit Interfaces.0
351515352022β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.2
359263222022The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.1
351515352022β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.2
359263222022The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.1
299765702018Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism.5
305121552018[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency].0
299765702018Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism.5
305121552018[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency].0
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].10
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.6
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].10

Citation

Dessen P

UPB1 (beta-ureidopropionase 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57807/upb1-(beta-ureidopropionase-1)