Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51733
Gene name	Beta-ureidopropionase 1
Gene symbol	UPB1
Synonyms (NCBI Gene)	BUP1
Chromosome	22
Chromosome location	22q11.23
Summary	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

Show/Hide all (6)

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
rs876657373	A>G	Pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments
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
MIRT1476029	hsa-let-7f	CLIP-seq
MIRT1476030	hsa-let-7g	CLIP-seq
MIRT1476031	hsa-let-7i	CLIP-seq
MIRT1476032	hsa-miR-1587	CLIP-seq
MIRT1476033	hsa-miR-202	CLIP-seq
MIRT1476034	hsa-miR-2110	CLIP-seq
MIRT1476035	hsa-miR-3150a-3p	CLIP-seq
MIRT1476036	hsa-miR-3175	CLIP-seq
MIRT1476037	hsa-miR-3690	CLIP-seq
MIRT1476038	hsa-miR-3909	CLIP-seq
MIRT1476039	hsa-miR-4269	CLIP-seq
MIRT1476040	hsa-miR-4282	CLIP-seq
MIRT1476041	hsa-miR-4458	CLIP-seq
MIRT1476042	hsa-miR-4492	CLIP-seq
MIRT1476043	hsa-miR-4498	CLIP-seq
MIRT1476044	hsa-miR-4500	CLIP-seq
MIRT1476045	hsa-miR-4514	CLIP-seq
MIRT1476046	hsa-miR-4638-3p	CLIP-seq
MIRT1476047	hsa-miR-4656	CLIP-seq
MIRT1476048	hsa-miR-4675	CLIP-seq
MIRT1476049	hsa-miR-4692	CLIP-seq
MIRT1476050	hsa-miR-4741	CLIP-seq
MIRT1476051	hsa-miR-4742-5p	CLIP-seq
MIRT1476052	hsa-miR-490-3p	CLIP-seq
MIRT1476053	hsa-miR-589	CLIP-seq
MIRT1476054	hsa-miR-619	CLIP-seq
MIRT1476055	hsa-miR-626	CLIP-seq
MIRT1476056	hsa-miR-762	CLIP-seq
MIRT1476057	hsa-miR-939	CLIP-seq
MIRT1476058	hsa-miR-98	CLIP-seq
MIRT1476054	hsa-miR-619	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001889	Process	Liver development	IEA
GO:0003837	Function	Beta-ureidopropionase activity	IBA
GO:0003837	Function	Beta-ureidopropionase activity	IDA	22525402, 29976570
GO:0003837	Function	Beta-ureidopropionase activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006248	Process	CMP catabolic process	IEA
GO:0006249	Process	DCMP catabolic process	IEA
GO:0008270	Function	Zinc ion binding	IDA	29976570
GO:0016787	Function	Hydrolase activity	IEA
GO:0019482	Process	Beta-alanine metabolic process	IEA
GO:0019483	Process	Beta-alanine biosynthetic process	IEA
GO:0033396	Process	Beta-alanine biosynthetic process via 3-ureidopropionate	IBA
GO:0033396	Process	Beta-alanine biosynthetic process via 3-ureidopropionate	IDA	22525402, 29976570
GO:0042803	Function	Protein homodimerization activity	IDA	29976570
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0046050	Process	UMP catabolic process	IEA
GO:0046079	Process	DUMP catabolic process	IEA
GO:0046135	Process	Pyrimidine nucleoside catabolic process	IMP	22525402
GO:0051260	Process	Protein homooligomerization	IDA	22525402
GO:0051289	Process	Protein homotetramerization	IDA	29976570
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
606673	16297	ENSG00000100024

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

Tissue specificity

TISSUE SPECIFICITY: Detected in liver (at protein level). {ECO:0000269|PubMed:22525402}.

Sequence

MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFE
AAEEQLRRPRIVHVGLVQNRIPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEA
WTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNT
AVVISNSGAVLGKTRKNHIPRVGDFNESTYYMEGNLGHPVFQTQFGRIAVNICYGRHHPL
NWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTEHFPNEFTS
GDGKKAHQDFGYFYGSSYVAAPDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTG
RYEMYARELAEAVKSNYSPTIVKE

Sequence length

384

Interactions

View interactions

	KEGG		Reactome
	Pyrimidine metabolism beta-Alanine metabolism Pantothenate and CoA biosynthesis Drug metabolism - other enzymes Metabolic pathways		Pyrimidine catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Likely pathogenic; Pathogenic	rs143493067	RCV005901092	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs143493067	RCV005901093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of beta-ureidopropionase	Pathogenic; Likely pathogenic	rs140157113, rs770644036, rs772212502, rs1012254852, rs2147041278, rs138081800, rs747539101, rs1296034492, rs1568979622, rs143493067, rs765062693	RCV005432699 RCV003989419 RCV002279889 RCV002279890 RCV002279891 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs747539101	RCV005895478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs143493067	RCV005901091	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UPB1-related disorder	Likely pathogenic; Pathogenic	rs1012254852, rs138081800, rs143493067	RCV004750721 RCV004751199 RCV003424067	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-UREIDOPROPIONASE DEFICIENCY	—	CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOGENIC WEST SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	23275889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	18853477		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	24526388	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Ureidopropionase Deficiency	Beta-Ureidopropionase Deficiency	UNIPROT_DG	15385443, 22525402, 24526388		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Ureidopropionase Deficiency	Beta-Ureidopropionase Deficiency	ORPHANET_DG	15385443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-ureidopropionase deficiency	Beta-Ureidopropionase Deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Ureidopropionase Deficiency	Beta-Ureidopropionase Deficiency	BEFREE	17964839, 25236466		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Ureidopropionase Deficiency	Beta-Ureidopropionase Deficiency	GENOMICS_ENGLAND_DG	17964839, 25445412, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Ureidopropionase Deficiency	Beta-Ureidopropionase Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Ureidopropionase Deficiency	Beta-Ureidopropionase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Exstrophy	Bladder Exstrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26414287, 28717245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	CTD_human_DG	30097691		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27733154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27733154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptogenic Infantile Spasms	Cryptogenic West syndrome	CTD_human_DG	18853477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	23238479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30608453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jackknife Seizures	Jackknife Seizures	CTD_human_DG	18853477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26414287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	CTD_human_DG	18853477		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucositis	Mucositis	Pubtator	23238479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodding spasm	Spasmus nutans	CTD_human_DG	18853477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37279148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	CTD_human_DG	18853477		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
spasmus nutans	Spasmus nutans	CTD_human_DG	18853477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	16417553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Symptomatic Infantile Spasms	Symptomatic West syndrome	CTD_human_DG	18853477		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	CTD_human_DG	18853477		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

UPB1 (beta-ureidopropionase 1)