UPB1

Chr 22AR

beta-ureidopropionase 1

Also known as: BUP1

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]

OMIMResearchGenerating clinical summary…
DNmechanismARLOEUF 1.261 OMIM phenotype
Clinical SummaryUPB1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.26LOEUF
pLI 0.000
Z-score 0.63
OE 0.86 (0.601.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.87Z-score
OE missense 1.16 (1.051.29)
261 obs / 224.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.86 (0.601.26)
00.351.4
Missense OE?1.16 (1.051.29)
00.61.4
Synonymous OE?1.19
01.21.6
LoF obs/exp: 19 / 22.2Missense obs/exp: 261 / 224.5Syn Z: -1.42

This gene — mechanism propensity

DN
0.6162th %ile
GOF
0.5661th %ile
LOF
0.3842th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UPB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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