UPB1

Protein identityUniProt · HPA

UniProt accession

Q9UBR1

Gene

UPB1

Ensembl

ENSG00000100024

Chromosome

22

Canonical length

384 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homooctamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

384 residues, UniProt reviewed canonical sequence.

>Q9UBR1|UPB1
     1  MAGAEWKSLE ECLEKHLPLP DLQEVKRVLY GKELRKLDLP REAFEAASRE DFELQGYAFE
    61  AAEEQLRRPR IVHVGLVQNR IPLPANAPVA EQVSALHRRI KAIVEVAAMC GVNIICFQEA
   121  WTMPFAFCTR EKLPWTEFAE SAEDGPTTRF CQKLAKNHDM VVVSPILERD SEHGDVLWNT
   181  AVVISNSGAV LGKTRKNHIP RVGDFNESTY YMEGNLGHPV FQTQFGRIAV NICYGRHHPL
   241  NWLMYSINGA EIIFNPSATI GALSESLWPI EARNAAIANH CFTCAINRVG TEHFPNEFTS
   301  GDGKKAHQDF GYFYGSSYVA APDSSRTPGL SRSRDGLLVA KLDLNLCQQV NDVWNFKMTG
   361  RYEMYARELA EAVKSNYSPT IVKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UPB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

152 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UPB1.

Disease | AllUniProt

Conditions UPB1 is implicated in, by any mechanism.

• Beta-ureidopropionase deficiency (UPB1D) MIM:613161

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 251 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deficiency of beta-ureidopropionase
• Inborn genetic diseases
• UPB1-related disorder
• Hepatocellular carcinoma
• Clear cell carcinoma of kidney

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.26

gnomAD pLI

0

gnomAD missense Z

-0.87

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• CMP catabolic process
• dCMP catabolic process
• dUMP catabolic process
• in utero embryonic development
• liver development
• protein homooligomerization
• protein homotetramerization
• UMP catabolic process
• beta-alanine biosynthetic process via 3-ureidopropionate
• pyrimidine nucleoside catabolic process

Molecular functions

• protein homodimerization activity
• beta-ureidopropionase activity

Cellular components

• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Carbon-nitrogen hydrolase
• Carbon-nitrogen hydrolase superfamily
• Carbon-nitrogen hydrolase
• Aliphatic Amidase/Beta-Ureidopropionase

KeywordsUniProt

• Cytoplasm
• Hydrolase
• Phosphoprotein