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Q9UBR1

- BUP1_HUMAN

UniProt

Q9UBR1 - BUP1_HUMAN

Protein

Beta-ureidopropionase

Gene

UPB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Converts N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to, respectively, beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide.

    Catalytic activityi

    N-carbamoyl-beta-alanine + H2O = beta-alanine + CO2 + NH3.

    Cofactori

    Binds 1 zinc ion per subunit.Curated

    Enzyme regulationi

    Allosteric enzyme with positive cooperativity toward the substrate N-carbamoyl-beta-alanine.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi97 – 971ZincSequence Analysis
    Active sitei119 – 1191Proton acceptorPROSITE-ProRule annotation
    Metal bindingi158 – 1581ZincSequence Analysis
    Active sitei196 – 1961Proton donorPROSITE-ProRule annotation
    Active sitei233 – 2331NucleophilePROSITE-ProRule annotation
    Metal bindingi280 – 2801ZincSequence Analysis
    Metal bindingi293 – 2931ZincSequence Analysis
    Metal bindingi307 – 3071ZincSequence Analysis

    GO - Molecular functioni

    1. beta-ureidopropionase activity Source: Reactome
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. beta-alanine biosynthetic process Source: UniProtKB-UniPathway
    2. nucleobase-containing small molecule metabolic process Source: Reactome
    3. pyrimidine nucleobase metabolic process Source: Reactome
    4. pyrimidine nucleoside catabolic process Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_1023. Pyrimidine catabolism.
    UniPathwayiUPA00131.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-ureidopropionase (EC:3.5.1.6)
    Alternative name(s):
    BUP-1
    Beta-alanine synthase
    N-carbamoyl-beta-alanine amidohydrolase
    Gene namesi
    Name:UPB1
    Synonyms:BUP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:16297. UPB1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851A → E in BUPD; complete loss of activity. 1 Publication
    Corresponds to variant rs34035085 [ dbSNP | Ensembl ].
    VAR_026752

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi613161. phenotype.
    Orphaneti65287. Beta-ureidopropionase deficiency.
    PharmGKBiPA418.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 384384Beta-ureidopropionasePRO_0000204051Add
    BLAST

    Proteomic databases

    MaxQBiQ9UBR1.
    PaxDbiQ9UBR1.
    PRIDEiQ9UBR1.

    PTM databases

    PhosphoSiteiQ9UBR1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UBR1.
    BgeeiQ9UBR1.
    CleanExiHS_UPB1.
    GenevestigatoriQ9UBR1.

    Organism-specific databases

    HPAiHPA000728.

    Interactioni

    Protein-protein interaction databases

    MINTiMINT-5005710.
    STRINGi9606.ENSP00000324343.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBR1.
    SMRiQ9UBR1. Positions 5-384.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini72 – 366295CN hydrolasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 CN hydrolase domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0388.
    HOVERGENiHBG018848.
    InParanoidiQ9UBR1.
    KOiK01431.
    OMAiYGKETRK.
    PhylomeDBiQ9UBR1.
    TreeFamiTF313402.

    Family and domain databases

    Gene3Di3.60.110.10. 1 hit.
    InterProiIPR003010. C-N_Hydrolase.
    [Graphical view]
    PfamiPF00795. CN_hydrolase. 1 hit.
    [Graphical view]
    SUPFAMiSSF56317. SSF56317. 1 hit.
    PROSITEiPS50263. CN_HYDROLASE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UBR1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGAEWKSLE ECLEKHLPLP DLQEVKRVLY GKELRKLDLP REAFEAASRE    50
    DFELQGYAFE AAEEQLRRPR IVHVGLVQNR IPLPANAPVA EQVSALHRRI 100
    KAIVEVAAMC GVNIICFQEA WTMPFAFCTR EKLPWTEFAE SAEDGPTTRF 150
    CQKLAKNHDM VVVSPILERD SEHGDVLWNT AVVISNSGAV LGKTRKNHIP 200
    RVGDFNESTY YMEGNLGHPV FQTQFGRIAV NICYGRHHPL NWLMYSINGA 250
    EIIFNPSATI GALSESLWPI EARNAAIANH CFTCAINRVG TEHFPNEFTS 300
    GDGKKAHQDF GYFYGSSYVA APDSSRTPGL SRSRDGLLVA KLDLNLCQQV 350
    NDVWNFKMTG RYEMYARELA EAVKSNYSPT IVKE 384
    Length:384
    Mass (Da):43,166
    Last modified:May 1, 2000 - v1
    Checksum:i62B81982D2D63CC3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti263 – 2631L → LRSL in AAF06739. (PubMed:10542323)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851A → E in BUPD; complete loss of activity. 1 Publication
    Corresponds to variant rs34035085 [ dbSNP | Ensembl ].
    VAR_026752
    Natural varianti340 – 3401A → D.
    Corresponds to variant rs34110964 [ dbSNP | Ensembl ].
    VAR_050280

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS13827.1.
    RefSeqiNP_057411.1. NM_016327.2.
    UniGeneiHs.731656.

    Genome annotation databases

    EnsembliENST00000326010; ENSP00000324343; ENSG00000100024.
    GeneIDi51733.
    KEGGihsa:51733.
    UCSCiuc003aaf.3. human.

    Polymorphism databases

    DMDMi17373540.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS13827.1.
    RefSeqi NP_057411.1. NM_016327.2.
    UniGenei Hs.731656.

    3D structure databases

    ProteinModelPortali Q9UBR1.
    SMRi Q9UBR1. Positions 5-384.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-5005710.
    STRINGi 9606.ENSP00000324343.

    PTM databases

    PhosphoSitei Q9UBR1.

    Polymorphism databases

    DMDMi 17373540.

    Proteomic databases

    MaxQBi Q9UBR1.
    PaxDbi Q9UBR1.
    PRIDEi Q9UBR1.

    Protocols and materials databases

    DNASUi 51733.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000326010 ; ENSP00000324343 ; ENSG00000100024 .
    GeneIDi 51733.
    KEGGi hsa:51733.
    UCSCi uc003aaf.3. human.

    Organism-specific databases

    CTDi 51733.
    GeneCardsi GC22P024891.
    HGNCi HGNC:16297. UPB1.
    HPAi HPA000728.
    MIMi 606673. gene.
    613161. phenotype.
    neXtProti NX_Q9UBR1.
    Orphaneti 65287. Beta-ureidopropionase deficiency.
    PharmGKBi PA418.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0388.
    HOVERGENi HBG018848.
    InParanoidi Q9UBR1.
    KOi K01431.
    OMAi YGKETRK.
    PhylomeDBi Q9UBR1.
    TreeFami TF313402.

    Enzyme and pathway databases

    UniPathwayi UPA00131 .
    Reactomei REACT_1023. Pyrimidine catabolism.

    Miscellaneous databases

    GeneWikii UPB1.
    GenomeRNAii 51733.
    NextBioi 55796.
    PROi Q9UBR1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBR1.
    Bgeei Q9UBR1.
    CleanExi HS_UPB1.
    Genevestigatori Q9UBR1.

    Family and domain databases

    Gene3Di 3.60.110.10. 1 hit.
    InterProi IPR003010. C-N_Hydrolase.
    [Graphical view ]
    Pfami PF00795. CN_hydrolase. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56317. SSF56317. 1 hit.
    PROSITEi PS50263. CN_HYDROLASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. 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. Cited for: VARIANT BUPD GLU-85, CHARACTERIZATION OF VARIANT BUPD GLU-85.

    Entry informationi

    Entry nameiBUP1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBR1
    Secondary accession number(s): A3KMF8, Q9UIR3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 116 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Allosteric enzyme, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3