UPB1 Gene (Beta-Ureidopropionase)
UPB1: Beta-Ureidopropionase – Pyrimidine Catabolism and Genetic Disorders
Gene Information Card
| Symbol | UPB1 |
|---|---|
| Full Name | Beta-ureidopropionase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 51733 ncbi.nlm.nih.gov/gene/51733 |
| Ensembl ID | ENSG00000100024 |
| UniProt ID | Q9UBR1 |
| OMIM ID | 606673 |
| HGNC ID | 12567 |
| Aliases | BUP1, N-carbamoyl-beta-alanine amidohydrolase |
Description
The UPB1 gene encodes beta-ureidopropionase, the third enzyme in the pyrimidine degradation pathway. It catalyzes the conversion of N-carbamoyl-beta-alanine and N-carbamoyl-beta-aminoisobutyric acid to beta-alanine and beta-aminoisobutyric acid, respectively, releasing carbon dioxide and ammonia. This enzyme is critical for the catabolism of uracil and thymine. Mutations in UPB1 cause beta-ureidopropionase deficiency, an autosomal recessive disorder characterized by elevated N-carbamoyl-beta-alanine and N-carbamoyl-beta-aminoisobutyric acid in urine and cerebrospinal fluid, often presenting with neurological symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Beta-ureidopropionase deficiency | Loss-of-function mutations in UPB1 impair conversion of N-carbamoyl-beta-alanine to beta-alanine, leading to accumulation of toxic intermediates. | ClinVar, OMIM |
| Developmental delay / intellectual disability | Accumulation of N-carbamoyl-beta-alanine and N-carbamoyl-beta-aminoisobutyric acid is associated with neurotoxicity and neurological impairment. | ClinVar, OMIM |
| Seizures | Metabolic disturbance from pyrimidine catabolism block may contribute to epileptic phenotypes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 4.1 | Low |
| Small intestine | 3.9 | Low |
| Testis | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 6.7 | Embryonic kidney cells |
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.977G>A (p.Arg326Gln) | Missense | Rare | Reduced enzyme activity; associated with beta-ureidopropionase deficiency |
| c.130C>T (p.Arg44*) | Nonsense | Rare | Premature stop; loss of function |
| c.680_681delAG (p.Glu227Valfs*13) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported UPB1 mutations are loss-of-function, leading to beta-ureidopropionase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003837 – beta-ureidopropionase activity | • GO:0006212 – uracil catabolic process |
| • GO:0006213 – thymine catabolic process | • GO:0005737 – cytoplasm |
| • GO:0005829 – cytosol |
Pathways
• Pyrimidine degradation (Reactome: R-HSA-73621)
• Beta-alanine metabolism (KEGG: map00410)
Protein Summary
Beta-ureidopropionase is a homooctameric enzyme belonging to the nitrilase superfamily. It is predominantly expressed in liver and kidney. The enzyme catalyzes the final step of pyrimidine catabolism, converting N-carbamoyl-beta-alanine and N-carbamoyl-beta-aminoisobutyric acid to beta-alanine and beta-aminoisobutyric acid. Deficiency leads to accumulation of N-carbamoyl amino acids, which are excreted in urine and can cause neurological symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UPB1 Knockout HEK293 Cell Line | EDJ-KQ11206 | Human | 51733 | Details Get a Quote |
| UPB1 Knockout HeLa Cell Line | EDJ-KQ56354 | Human | 51733 | Details Get a Quote |
| UPB1 Knockout A-549 Cell Line | EDJ-KQ64844 | Human | 51733 | Details Get a Quote |
| UPB1 Knockout HCT 116 Cell Line | EDJ-KQ73288 | Human | 51733 | Details Get a Quote |
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