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

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 name Gene Name - the full gene name approved by the HGNC.	Beta-ureidopropionase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UPB1
Synonyms (NCBI Gene) Gene synonyms aliases	BUP1
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.23
Summary Summary 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

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(15)

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
GO:0033396	Process	Beta-alanine biosynthetic process via 3-ureidopropionate	IBA	21873635
GO:0033396	Process	Beta-alanine biosynthetic process via 3-ureidopropionate	IDA	22525402, 29976570
GO:0042803	Function	Protein homodimerization activity	IDA	29976570
GO:0046050	Process	UMP catabolic process	IEA
GO:0046079	Process	DUMP catabolic process	IEA
GO:0046135	Process	Pyrimidine nucleoside catabolic process	IMP	22525402
GO:0046135	Process	Pyrimidine nucleoside catabolic process	TAS
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

Protein

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

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

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	18853477
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104	18853477

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Bladder exstrophy	Bladder Exstrophy		ClinVar
Celiac disease	Celiac Disease	30097691	ClinVar
Metabolic diseases	Metabolic Diseases	18853477	ClinVar
Acne	Acne		GWAS
Myocardial Infarction	Myocardial Infarction		GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	36119068
Autism Spectrum Disorder	Associate	23275889
Autistic Disorder	Associate	24526388
Beta Ureidopropionase Deficiency	Associate	24526388, 30608453
Carcinoma Hepatocellular	Associate	26414287, 28717245
Colorectal Neoplasms	Associate	27733154
Drug Related Side Effects and Adverse Reactions	Associate	23238479, 32619063
Gastrointestinal Diseases	Associate	23238479
Metabolism Inborn Errors	Associate	27453504
Mucositis	Associate	23238479
Neoplasms	Associate	32619063
Neurologic Manifestations	Associate	24526388
Prostatic Neoplasms	Associate	37279148
Status Epilepticus	Associate	16417553

UPB1 (beta-ureidopropionase 1)