Beta-ureidopropionase - Homo sapiens (Human)

Contribute

Send feedback

Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot Q9UBR1 (BUP1_HUMAN)

Last modified June 16, 2009. Version 66. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data |

Customize display

text xml rdf/xml gff fasta

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein names

Recommended name:
    Beta-ureidopropionase
    EC=3.5.1.6
Alternative name(s):
    Beta-alanine synthase
    N-carbamoyl-beta-alanine amidohydrolase
    BUP-1

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

Hide | Top

Protein attributes

Sequence length	384 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

Hide | Top

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 [MIM:606673]. 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.4
Sequence similarities	Belongs to the CN hydrolase family. BUP subfamily. Contains 1 CN hydrolase domain.

Hide | Top

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	Metal-binding Zinc
Molecular function	Hydrolase
Technical term	Allosteric enzyme
Gene Ontology (GO)
Biological process	nitrogen compound metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	cytosol Ref.4 Inferred from Experiment. Source: Reactome
Molecular function	beta-ureidopropionase activity Ref.1 Ref.4 Inferred from Experiment. Source: Reactome zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Hide | Top

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

Zinc Potential

Metal binding

158

Zinc Potential

Metal binding

280

Zinc Potential

Metal binding

293

Zinc Potential

Metal binding

307

Zinc Potential

Natural variations

Natural variant

A → E in beta-ureidopropionase deficiency; complete loss of activity. Ref.4

VAR_026752

Natural variant

340

A → D: dbSNP rs34110964.

VAR_050280

Experimental info

Sequence conflict

263

L → LRSL in AAF06739. Ref.1

Hide | Top

Sequences

Sequence

Length

Mass (Da)

Tools

Q9UBR1-1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 62B81982D2D63CC3
Show »

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

« Hide

Hide | Top

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:RESEARCH84.1-RESEARCH84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"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 BETA-UREIDOPROPIONASE DEFICIENCY GLU-85, CHARACTERIZATION OF VARIANT BETA-UREIDOPROPIONASE DEFICIENCY GLU-85.
+	Additional computationally mapped references.

Hide | Top

Web resources

GeneReviews

Hide | Top

Cross-references

Sequence databases
	AF163312 mRNA. Translation: AAF06735.1. AF169559 AF169558 Genomic DNA. Translation: AAF06739.1. AB013885 mRNA. Translation: BAA88634.1. CR456375 mRNA. Translation: CAG30261.1.
IPI	IPI00008842.
RefSeq	NP_057411.1.
UniGene	Hs.474388
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q9UBR1.
Genome annotation databases
Ensembl	ENSG00000100024. Homo sapiens. [Contig view]
GeneID	51733.
KEGG	hsa:51733.
NMPDR	fig\|9606.3.peg.21425.
Organism-specific databases
GeneCards	GC22P023215.
H-InvDB	HIX0021458.
HGNC	HGNC:16297. UPB1.
HPA	HPA000728.
MIM	606673. gene+phenotype.
Orphanet	65287. Beta-ureidopropionase deficiency.
PharmGKB	PA418.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9UBR1.
HOVERGEN	Q9UBR1.
OMA	Q9UBR1. AIANSYF.
Enzyme and pathway databases
BRENDA	3.5.1.6. 247.
Reactome	REACT_1698. Nucleotide metabolism.
Gene expression databases
ArrayExpress	Q9UBR1.
Bgee	Q9UBR1.
CleanEx	HS_UPB1.
GermOnline	ENSG00000100024. Homo sapiens.
Family and domain databases
InterPro	IPR003010. Ntlse/CNhydtse. [Graphical view]
Gene3D	G3DSA:3.60.110.10. Ntlse/CNhydtse. 1 hit.
Pfam	PF00795. CN_hydrolase. 1 hit. [Graphical view]
PROSITE	PS50263. CN_HYDROLASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	55796.
SOURCE	Search...

Hide | Top

Entry information

Entry name

BUP1_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	May 1, 2000
Last modified:	June 16, 2009
This is version 66 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents