UPB1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- UPB1 (HGNC:16297) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- beta-ureidopropionase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- BUP1
- %HI
- 65(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.26(Read more about gnomAD LOEUF score)
- Cytoband
- 22q11.23
- Genomic Coordinates
-
GRCh37/hg19: chr22:24891300-24924358 NCBI Ensembl UCSC GRCh38/hg38: chr22:24495332-24528390 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016327.3 ENST00000326010.10 (Read more about MANE Select)
- Function
- 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:10542323, PubMed:11508704, PubMed:10415095, PubMed:29976570, PubMed:22525402, PubMed:24526388). Likewise, converts N-carbamoyl-beta- aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable). {ECO:0000269|PubMed:10415095, ECO:0000269|PubMed:10542323, ECO:00002... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15959
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- beta-ureidopropionase deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)