InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UPB1

Summary

InnateDB Protein

IDBP-2866.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UPB1

Protein Name

ureidopropionase, beta

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000324343

InnateDB Gene

IDBG-2864 (UPB1)

Protein Structure

UniProt Annotation

Function

Converts N-carbamyl-beta-aminoisobutyric acid and N- carbamyl-beta-alanine to, respectively, beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide.

Subcellular Localization

Cytoplasm.

Disease Associations

Beta-ureidopropionase deficiency (BUPD) [MIM:613161]: An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. {ECO:0000269PubMed:15385443}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003837	beta-ureidopropionase activity
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
GO:0046872	metal ion binding

Biological Process

GO:0006206	pyrimidine nucleobase metabolic process
GO:0006807	nitrogen compound metabolic process
GO:0019483	beta-alanine biosynthetic process
GO:0044281	small molecule metabolic process
GO:0046135	pyrimidine nucleoside catabolic process
GO:0055086	nucleobase-containing small molecule metabolic process