MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP005242

Record overview

MGPD IDMGP005242
Gene ID51733
SpeciesHomo sapiens (Human)
Gene Nameureidopropionase, beta
Gene Symbol UPB1
SynonymsBUP1;
Alternate namesbeta-ureidopropionase; beta-alanine synthase; n-carbamoyl-beta-alanine amidohydrolase;
Chromosome22
Map Location22q11.2
EC Number3.5.1.6
SummaryThis 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]
OrthologsView orthologs and multiple alignments for UPB1

Proteins

beta-ureidopropionase
Refseq ID:NP_057411
Protein GI:7706509
UniProt ID:Q9UBR1
mRNA ID:NM_016327
Length:384
RefSeq Status:
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNRIPLPANAPVAEQVSALHRRI
KAIVEVAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIP
RVGDFNESTYYMEGNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTEHFPNEFTS
GDGKKAHQDFGYFYGSSYVAAPDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTGRYEMYARELAEAVKSNYSPTIVKE
 
  logo