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 |
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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 |
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| 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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 | |
| Subcellular location | |
| 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. |
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 bindingInferred 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 beta-ureidopropionase deficiency; complete loss of activity. Ref.4 | VAR_026752 | |||||
| Natural variant | 340 | 1 | A → D: dbSNP rs34110964. | VAR_050280 | |||||
Experimental info | |||||||||
| Sequence conflict | 263 | 1 | L → LRSL in AAF06739. Ref.1 | ||||||
Sequences
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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: 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. |
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... |
Entry information
| Entry name | BUP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UBR1 Secondary accession number(s): Q9UIR3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |

Clusters with


