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Q9UBR1 (BUP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length384 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Beta-ureidopropionase deficiency (BUPD) [MIM:613161]: An inborn error of metabolism due to a defect in pyrimidine degradation. 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the carbon-nitrogen hydrolase superfamily. BUP family.

Contains 1 CN hydrolase domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 384384Beta-ureidopropionase
PRO_0000204051

Regions

Domain72 – 366295CN hydrolase

Sites

Metal binding971Zinc Potential
Metal binding1581Zinc Potential
Metal binding2801Zinc Potential
Metal binding2931Zinc Potential
Metal binding3071Zinc Potential

Natural variations

Natural variant851A → E in BUPD; complete loss of activity. Ref.6
Corresponds to variant rs34035085 [ dbSNP | Ensembl ].
VAR_026752
Natural variant3401A → D.
Corresponds to variant rs34110964 [ dbSNP | Ensembl ].
VAR_050280

Experimental info

Sequence conflict2631L → LRSL in AAF06739. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9UBR1 [UniParc].

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

FASTA38443,166
        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

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: VARIANT BUPD GLU-85, CHARACTERIZATION OF VARIANT BUPD GLU-85.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF163312 mRNA. Translation: AAF06735.1.
AF169559 expand/collapse EMBL AC list , 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.
RefSeqNP_057411.1. NM_016327.2.
UniGeneHs.731656.

3D structure databases

ProteinModelPortalQ9UBR1.
SMRQ9UBR1. Positions 5-384.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-5005710.
STRING9606.ENSP00000324343.

PTM databases

PhosphoSiteQ9UBR1.

Polymorphism databases

DMDM17373540.

Proteomic databases

PaxDbQ9UBR1.
PRIDEQ9UBR1.

Protocols and materials databases

DNASU51733.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326010; ENSP00000324343; ENSG00000100024.
GeneID51733.
KEGGhsa:51733.
UCSCuc003aaf.3. human.

Organism-specific databases

CTD51733.
GeneCardsGC22P024891.
HGNCHGNC:16297. UPB1.
HPAHPA000728.
MIM606673. gene.
613161. phenotype.
neXtProtNX_Q9UBR1.
Orphanet65287. Beta-ureidopropionase deficiency.
PharmGKBPA418.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0388.
HOVERGENHBG018848.
InParanoidQ9UBR1.
KOK01431.
OMAYGKETRK.
PhylomeDBQ9UBR1.
TreeFamTF313402.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00131.

Gene expression databases

ArrayExpressQ9UBR1.
BgeeQ9UBR1.
CleanExHS_UPB1.
GenevestigatorQ9UBR1.

Family and domain databases

Gene3D3.60.110.10. 1 hit.
InterProIPR003010. C-N_Hydrolase.
[Graphical view]
PfamPF00795. CN_hydrolase. 1 hit.
[Graphical view]
SUPFAMSSF56317. SSF56317. 1 hit.
PROSITEPS50263. CN_HYDROLASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiUPB1.
GenomeRNAi51733.
NextBio55796.
PROQ9UBR1.
SOURCESearch...

Entry information

Entry nameBUP1_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

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