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UPB1 (beta-ureidopropionase 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51733
Gene nameGene Name - the full gene name approved by the HGNC.
Beta-ureidopropionase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
UPB1
SynonymsGene synonyms aliases
BUP1
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.23
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs34035085 C>A,T Likely-benign, benign, pathogenic 5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs118163237 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Intron variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs138081800 A>G Pathogenic-likely-pathogenic Splice acceptor variant
rs143493067 G>A Pathogenic Genic downstream transcript variant, splice acceptor variant, intron variant
rs747539101 G>A Pathogenic Splice donor variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT1476024 hsa-let-7a CLIP-seq
MIRT1476025 hsa-let-7b CLIP-seq
MIRT1476026 hsa-let-7c CLIP-seq
MIRT1476027 hsa-let-7d CLIP-seq
MIRT1476028 hsa-let-7e CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003837 Function Beta-ureidopropionase activity IBA 21873635
GO:0003837 Function Beta-ureidopropionase activity IDA 22525402, 29976570
GO:0005829 Component Cytosol TAS
GO:0008270 Function Zinc ion binding IDA 29976570
GO:0016811 Function Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UBR1
Protein name Beta-ureidopropionase (EC 3.5.1.6) (BUP-1) (Beta-alanine synthase) (N-carbamoyl-beta-alanine amidohydrolase)
Protein 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:10415095, PubMed:10542323, PubMed:11508704, PubMed:2
PDB 6FTQ , 8PT4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00795 CN_hydrolase
73 → 352
Carbon-nitrogen hydrolase
 Family
Sequence
Sequence length 384
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Pyrimidine metabolism
beta-Alanine metabolism
Pantothenate and CoA biosynthesis
Drug metabolism - other enzymes
Metabolic pathways 		  Pyrimidine catabolism
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 18853477
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypotonia Neonatal Hypotonia rs141138948, rs397517172, rs869312824, rs1583169151
West syndrome West Syndrome rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104 18853477
Unknown
Disease name Disease term dbSNP ID References
Beta-ureidopropionase deficiency Beta-Ureidopropionase Deficiency 15385443, 24526388, 27604308, 22525402, 17964839, 25445412
Bladder exstrophy Bladder Exstrophy rs760064852, rs751444145
Celiac disease Celiac Disease rs2305764, rs35218876 30097691
Cryptogenic west syndrome Cryptogenic Infantile Spasms 18853477

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