Q9UBR1 (BUP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-ureidopropionase
EC=3.5.1.6

Alternative name(s):
BUP-1
Beta-alanine synthase
N-carbamoyl-beta-alanine amidohydrolase

Gene names

Name:	UPB1
Synonyms:	BUP1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	384 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Converts N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to, respectively, beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide.
Catalytic activity	N-carbamoyl-beta-alanine + H2O = beta-alanine + CO2 + NH3.
Cofactor	Binds 1 zinc ion per subunit Probable.
Enzyme regulation	Allosteric enzyme with positive cooperativity toward the substrate N-carbamoyl-beta-alanine By similarity.
Pathway	Amino-acid biosynthesis; beta-alanine biosynthesis.
Subcellular location	Cytoplasm.
Involvement in disease	Defects in UPB1 are the cause of beta-ureidopropionase deficiency (BUPD) [MIM:613161]. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. Ref.6
Sequence similarities	Belongs to the CN hydrolase family. BUP subfamily. Contains 1 CN hydrolase domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	Metal-binding Zinc
Molecular function	Hydrolase
Technical term	Allosteric enzyme Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	pyrimidine base metabolic process Traceable author statement. Source: Reactome pyrimidine nucleoside catabolic process Traceable author statement. Source: Reactome
Cellular component	cytosol Traceable author statement. Source: Reactome
Molecular function	beta-ureidopropionase activity Inferred from experiment. Source: Reactome metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 384	384	Beta-ureidopropionase		PRO_0000204051
Regions
	Domain	72 – 366	295	CN hydrolase
Sites
	Metal binding	97	1	Zinc Potential
	Metal binding	158	1	Zinc Potential
	Metal binding	280	1	Zinc Potential
	Metal binding	293	1	Zinc Potential
	Metal binding	307	1	Zinc Potential
Natural variations
	Natural variant	85	1	A → E in BUPD; complete loss of activity. Ref.6 Corresponds to variant rs34035085 [ dbSNP | Ensembl ].		VAR_026752
	Natural variant	340	1	A → D. Corresponds to variant rs34110964 [ dbSNP | Ensembl ].		VAR_050280
Experimental info
	Sequence conflict	263	1	L → LRSL in AAF06739. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9UBR1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 62B81982D2D63CC3	FASTA	384	43,166
	10 20 30 40 50 60 MAGAEWKSLE ECLEKHLPLP DLQEVKRVLY GKELRKLDLP REAFEAASRE DFELQGYAFE 70 80 90 100 110 120 AAEEQLRRPR IVHVGLVQNR IPLPANAPVA EQVSALHRRI KAIVEVAAMC GVNIICFQEA 130 140 150 160 170 180 WTMPFAFCTR EKLPWTEFAE SAEDGPTTRF CQKLAKNHDM VVVSPILERD SEHGDVLWNT 190 200 210 220 230 240 AVVISNSGAV LGKTRKNHIP RVGDFNESTY YMEGNLGHPV FQTQFGRIAV NICYGRHHPL 250 260 270 280 290 300 NWLMYSINGA EIIFNPSATI GALSESLWPI EARNAAIANH CFTCAINRVG TEHFPNEFTS 310 320 330 340 350 360 GDGKKAHQDF GYFYGSSYVA APDSSRTPGL SRSRDGLLVA KLDLNLCQQV NDVWNFKMTG 370 380 RYEMYARELA EAVKSNYSPT IVKE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase." Vreken P., van Kuilenburg A.B.P., Hamajima N., Meinsma R., van Lenthe H., Goehlich-Ratmann G., Assmann B.E., Wevers R.A., van Gennip A.H. Biochim. Biophys. Acta 1447:251-257(1999) [PubMed: 10542323] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]	"Expression and properties of human liver beta-ureidopropionase." Sakamoto T., Sakata S.F., Matsuda K., Horikawa Y., Tamaki N. J. Nutr. Sci. Vitaminol. 47:132-138(2001) [PubMed: 11508704] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION. Tissue: Liver.
[3]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities." van Kuilenburg A.B.P., Meinsma R., Beke E., Assmann B., Ribes A., Lorente I., Busch R., Mayatepek E., Abeling N.G.G.M., van Cruchten A., Stroomer A.E.M., van Lenthe H., Zoetekouw L., Kulik W., Hoffmann G.F., Voit T., Wevers R.A., Rutsch F., van Gennip A.H. Hum. Mol. Genet. 13:2793-2801(2004) [PubMed: 15385443] [Abstract] Cited for: VARIANT BUPD GLU-85, CHARACTERIZATION OF VARIANT BUPD GLU-85.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF163312 mRNA. Translation: AAF06735.1. AF169559 , AF169550, AF169551, AF169552, AF169553, AF169554, AF169555, AF169556, AF169557, AF169558 Genomic DNA. Translation: AAF06739.1. AB013885 mRNA. Translation: BAA88634.1. CR456375 mRNA. Translation: CAG30261.1. CH471095 Genomic DNA. Translation: EAW59663.1. BC131703 mRNA. Translation: AAI31704.1.
IPI	IPI00008842.
RefSeq	NP_057411.1. NM_016327.2.
UniGene	Hs.474388.
3D structure databases
ProteinModelPortal	Q9UBR1.
SMR	Q9UBR1. Positions 5-384.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9UBR1.
PTM databases
PhosphoSite	Q9UBR1.
Polymorphism databases
DMDM	17373540.
Proteomic databases
PRIDE	Q9UBR1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326010; ENSP00000324343; ENSG00000100024.
GeneID	51733.
KEGG	hsa:51733.
NMPDR	fig|9606.3.peg.21425.
UCSC	uc003aaf.1. human.
Organism-specific databases
CTD	51733.
GeneCards	GC22P024891.
H-InvDB	HIX0021458.
HGNC	HGNC:16297. UPB1.
HPA	HPA000728.
MIM	606673. gene. 613161. phenotype.
neXtProt	NX_Q9UBR1.
Orphanet	65287. Beta-ureidopropionase deficiency.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000004906.
HOVERGEN	HBG018848.
InParanoid	Q9UBR1.
OMA	VGTEVFP.
PhylomeDB	Q9UBR1.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q9UBR1.
Bgee	Q9UBR1.
CleanEx	HS_UPB1.
Genevestigator	Q9UBR1.
GermOnline	ENSG00000100024. Homo sapiens.
Family and domain databases
InterPro	IPR003010. Ntlse/CNhydtse. [Graphical view]
Gene3D	G3DSA:3.60.110.10. Ntlse/CNhydtse. 1 hit.
KO	K01431.
Pfam	PF00795. CN_hydrolase. 1 hit. [Graphical view]
SUPFAM	SSF56317. Ntlse/CNhydtse. 1 hit.
PROSITE	PS50263. CN_HYDROLASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	55796.
SOURCE	Search...

Entry information

Entry name

BUP1_HUMAN

Accession

Primary (citable) accession number: Q9UBR1
Secondary accession number(s): A3KMF8, Q9UIR3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.