UPB1

Chr 22q11.23

beta-ureidopropionase 1

Aliases:: BUP1
MANE:: ENST00000326010.10

OMIM: 606673 ↗NCBI: 51733 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UPB1 · Q9UBR1

v62025-08-01

Predicted Aligned Error matrix for UPB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

97.0/ 100

Very high

384 residues

Confidence breakdown

Very high(≥ 90)97%
Confident(70–90)2%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

beta-ureidopropionase deficiency
0.79
hereditary disease
0.49
acne
0.30
metabolic disease
0.26
Abnormal urine sodium concentration
0.12
hepatocellular carcinoma
0.07
coronary artery disorder
0.06
colorectal cancer
0.05
neoplasm
0.04
hyperinsulinemic hypoglycemia, familial, 4
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Beta-ureidopropionase

Catalyzes a late step in pyrimidine degradation (PubMed:22525402, PubMed:24526388). Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide (PubMed:10415095, PubMed:10542323, PubMed:11508704, PubMed:22525402, PubMed:24526388, PubMed:29976570). Likewise, converts N-carbamoyl-beta-aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable)