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(Top) 1 Interactive pathway map 2 References 3 Further reading

UPB1

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UPB1

Identifiers

Aliases

UPB1, BUP1, beta-ureidopropionase 1

External IDs

OMIM: 606673; MGI: 2143535; HomoloGene: 9471; GeneCards: UPB1; OMA:UPB1 - orthologs

Gene location (Human)

Chr.	Chromosome 22 (human)^[1]

Band	22q11.23	Start	24,494,107 bp^[1]
Band	22q11.23	End	24,528,390 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 10 (mouse)^[2]

Band	10\|10 C1	Start	75,236,949 bp^[2]
Band	10\|10 C1	End	75,277,513 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right lobe of liver

kidney tubule

glomerulus

metanephric glomerulus

oocyte

jejunal mucosa

human kidney

testicle

renal medulla

cerebellar vermis

Top expressed in

left lobe of liver

human kidney

right kidney

proximal tubule

lacrimal gland

islet of Langerhans

seminal vesicula

olfactory epithelium

parotid gland

fetal liver hematopoietic progenitor cell

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	beta-ureidopropionase activity catalytic activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds metal ion binding
Cellular component	cytoplasm cytosol extracellular exosome
Biological process	beta-alanine biosynthetic process metabolism nitrogen compound metabolic process pyrimidine nucleoside catabolic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


51733


103149

Ensembl


ENSG00000100024


ENSMUSG00000033427

UniProt


Q9UBR1


Q8VC97

RefSeq (mRNA)


NM_016327


NM_133995

RefSeq (protein)


NP_057411


NP_598756

Location (UCSC)

Chr 22: 24.49 – 24.53 Mb

Chr 10: 75.24 – 75.28 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.^[5]^[6]

This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity.^[6]

Interactive pathway map

[edit]

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Fluorouracil (5-FU) Activity edit]]

Fluorouracil (5-FU) Activity edit

^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

References

[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100024 – Ensembl, May 2017

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033427 – Ensembl, May 2017

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH (Dec 1999). "cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase". Biochim Biophys Acta. 1447 (2–3): 251–7. doi:10.1016/s0167-4781(99)00182-7. PMID 10542323.

^ ^a ^b "Entrez Gene: UPB1 ureidopropionase, beta".

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