• Gene id: 51733

Gene Summary

• Gene Symbol: UPB1   Gene   UCSC   Ensembl
• Aliases: BUP1
• Gene name: beta-ureidopropionase 1
• Alternate names: beta-ureidopropionase, beta-alanine synthase, n-carbamoyl-beta-alanine amidohydrolase, ureidopropionase, beta,
• Gene location: 22q11.23 (24495059: 24528680)     Exons: 13     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 606673

Protein Summary

• Protein general information: Q9UBR1  
  • Name: Beta ureidopropionase (EC 3.5.1.6) (BUP 1) (Beta alanine synthase) (N carbamoyl beta alanine amidohydrolase)
  • Length: 384  
  • Mass: 43166
  • Tissue specificity: Detected in liver (at protein level). {ECO
• Sequence:

  MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVG
  LVQNRIPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAESAEDGPTTRF
  CQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYMEGNLGHPVFQTQF
  GRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTEHFPNEFTS
  GDGKKAHQDFGYFYGSSYVAAPDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTGRYEMYARELAEAVKS
  NYSPTIVKE

• Structural information:
  • Protein Domains: (72..34-)
    (/note="CN-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00054"-)
  • Interpro: IPR003010  IPR036526  
  • Prosite: PS50263
  • PDB: 6FTQ
  • PDBsum: 6FTQ
  • STRING: ENSP00000324343
• Other Databases: GeneCards:  UPB1  Malacards:  UPB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019482	beta-alanine metabolic process	IBA	biological process
GO:0003837	beta-ureidopropionase activity	IBA	molecular function
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IBA	molecular function
GO:0033396	beta-alanine biosynthetic process via 3-ureidopropionate	IBA	biological process
GO:0008270	zinc ion binding	IDA	NOT|molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0033396	beta-alanine biosynthetic process via 3-ureidopropionate	IDA	biological process
GO:0003837	beta-ureidopropionase activity	IDA	molecular function
GO:0003837	beta-ureidopropionase activity	IDA	molecular function
GO:0033396	beta-alanine biosynthetic process via 3-ureidopropionate	IDA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0046135	pyrimidine nucleoside catabolic process	IMP	biological process
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003837	beta-ureidopropionase activity	IEA	molecular function
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0019483	beta-alanine biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism
hsa00410	beta-Alanine metabolism
hsa00770	Pantothenate and CoA biosynthesis

Diseases

Associated diseases	References
Beta-ureidopropionase deficiency	KEGG:H00200
Beta-ureidopropionase deficiency	KEGG:H00200
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq