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UPB1

GENERAL INFORMATION

Gene name

 UPB1

Gene description

 Ureidopropionase, beta

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (liver, kidney)
GTEx:Tissue enriched (liver)
FANTOM5:Tissue enriched (liver)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in liver.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA000728
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, kidney)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)

GENE INFORMATION

Gene name

 UPB1 (HGNC Symbol)

Synonyms

 BUP1

Description

 Ureidopropionase, beta (HGNC Symbol)

Entrez gene summary

 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. [provided by RefSeq, Jul 2008]

Chromosome

 22

Cytoband

 q11.23

Chromosome location (bp)

 24494107 - 24528390

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000100024 (version 83.38)

Entrez gene

 51733

UniProt

 Q9UBR1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UBR1

Antibodypedia

 UPB1 antibodies

PROTEIN BROWSER
UPB1-001
UPB1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
UPB1-001
ENSP00000324343
ENST00000326010
Q9UBR1 [Direct mapping]
Beta-ureidopropionase
A0A024R1H3 [Target identity:100%; Query identity:100%]
Ureidopropionase, beta, isoform CRA_b
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Enzymes
   ENZYME proteins
   Hydrolases
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003837 [beta-ureidopropionase activity]
GO:0005829 [cytosol]
GO:0006206 [pyrimidine nucleobase metabolic process]
GO:0006807 [nitrogen compound metabolic process]
GO:0016810 [hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds]
GO:0019483 [beta-alanine biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0046135 [pyrimidine nucleoside catabolic process]
GO:0046872 [metal ion binding]
GO:0055086 [nucleobase-containing small molecule metabolic process]
GO:0070062 [extracellular exosome]
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 384 aa
43.2 kDa 		No 0
UPB1-003
ENSP00000372208
ENST00000382760
Q6AHZ8 [Direct mapping]
Beta-ureidopropionase; Putative uncharacterized protein DKFZp779O1248
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   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006807 [nitrogen compound metabolic process]
GO:0016810 [hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds]
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 186 aa
20.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.