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Q9UBR1

- BUP1_HUMAN

UniProt

Q9UBR1 - BUP1_HUMAN

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Protein

Beta-ureidopropionase

Gene

UPB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9UBR1.
CleanExiHS_UPB1.
ExpressionAtlasiQ9UBR1. baseline and differential.
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.
GeneTreeiENSGT00390000004906.
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

        10         20         30         40         50
MAGAEWKSLE ECLEKHLPLP DLQEVKRVLY GKELRKLDLP REAFEAASRE
60 70 80 90 100
DFELQGYAFE AAEEQLRRPR IVHVGLVQNR IPLPANAPVA EQVSALHRRI
110 120 130 140 150
KAIVEVAAMC GVNIICFQEA WTMPFAFCTR EKLPWTEFAE SAEDGPTTRF
160 170 180 190 200
CQKLAKNHDM VVVSPILERD SEHGDVLWNT AVVISNSGAV LGKTRKNHIP
210 220 230 240 250
RVGDFNESTY YMEGNLGHPV FQTQFGRIAV NICYGRHHPL NWLMYSINGA
260 270 280 290 300
EIIFNPSATI GALSESLWPI EARNAAIANH CFTCAINRVG TEHFPNEFTS
310 320 330 340 350
GDGKKAHQDF GYFYGSSYVA APDSSRTPGL SRSRDGLLVA KLDLNLCQQV
360 370 380
NDVWNFKMTG RYEMYARELA EAVKSNYSPT IVKE
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.
GeneTreei ENSGT00390000004906.
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

Bgeei Q9UBR1.
CleanExi HS_UPB1.
ExpressionAtlasi Q9UBR1. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 117 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