UPB1 - beta-ureidopropionase 1 Gene

Homo sapiens

Also known as BUP1

Gene ID: 51733 | Gene type: protein coding

About UPB1

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:24,495,332-24,528,390 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 34.8) and kidney (RPKM 13.3).

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]

UPB1 Products(1)

mRNA	Protein	Name
NM_016327.3	NP_057411.1	beta-ureidopropionase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-ureidopropionase activity	IDA IDA: Inferred from direct assay	22525402	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	29976570	GOA
NOT enables zinc ion binding	IDA IDA: Inferred from direct assay	29976570	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in beta-alanine biosynthetic process via 3-ureidopropionate	IDA IDA: Inferred from direct assay	22525402	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	22525402	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	29976570	GOA
involved in pyrimidine nucleoside catabolic process	IMP IMP: Inferred from mutant phenotype	22525402	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UPB1 Protein Structure

CN_hydrolase

0
100
200
300
384 a.a.

Protein Preferred Names

Protein Names

beta-ureidopropionase

beta-alanine synthase

Recombinant UPB1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7688	BUP-1 Protein, Human (His)	Q9UBR1 (M1-E384)	≥95%

Related Diseases

Diseases

Alias

Beta-Ureidopropionase Deficiency

Deficiency Of Beta-Ureidopropionase	UPB1D
Beta-Alanine Synthase Deficiency

Dihydropyrimidinase Deficiency

Dihydropyrimidinuria	Dpys Deficiency
Dph Deficiency	DPYSD
Dihydrouracil Amidohydrolase Deficiency	Dihydropyrimidinuria Due To Dpys Deficiency

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

Histidine Metabolism Disease

Disturbances Of Histidine Metabolism	Disorder Of Histidine Metabolism
Disturbance Of Histidine Metabolism

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15481	UPB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	UPB1	VGNC	VGNC:79029
Bos taurus	UPB1	VGNC	VGNC:36679
Rattus norvegicus	UPB1	RGD	RGD:620091
Canis familiaris	UPB1	VGNC	VGNC:48149
Felis catus	UPB1	VGNC	VGNC:66839
Mus musculus	UPB1	MGD	MGI:2143535

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