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Protein

Beta-ureidopropionase

Gene

UPB1

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

Functioni

Converts N-carbamoyl-beta-aminoisobutyrate and N-carbamoyl-beta-alanine (3-ureidopropanoate) to, respectively, beta-aminoisobutyrate and beta-alanine, ammonia and carbon dioxide.

Catalytic activityi

3-ureidopropanoate + H2O = beta-alanine + CO2 + NH3.

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Enzyme regulationi

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

Pathwayi: beta-alanine biosynthesis

This protein is involved in the pathway beta-alanine biosynthesis, which is part of Amino-acid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway beta-alanine biosynthesis and in Amino-acid biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi97ZincSequence analysis1
Active sitei119Proton acceptorPROSITE-ProRule annotation1
Metal bindingi158ZincSequence analysis1
Active sitei196Proton donorPROSITE-ProRule annotation1
Active sitei233NucleophilePROSITE-ProRule annotation1
Metal bindingi280ZincSequence analysis1
Metal bindingi293ZincSequence analysis1
Metal bindingi307ZincSequence analysis1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciMetaCyc:HS01953-MONOMER.
ZFISH:HS01953-MONOMER.
BRENDAi3.5.1.6. 2681.
ReactomeiR-HSA-73621. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:16297. UPB1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Beta-ureidopropionase deficiency (UPB1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:613161
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02675285A → E in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant rs34035085dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51733.
MalaCardsiUPB1.
MIMi613161. phenotype.
OpenTargetsiENSG00000100024.
Orphaneti65287. Beta-ureidopropionase deficiency.
PharmGKBiPA418.

Chemistry databases

ChEMBLiCHEMBL3430874.

Polymorphism and mutation databases

BioMutaiUPB1.
DMDMi17373540.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002040511 – 384Beta-ureidopropionaseAdd BLAST384

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei378PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UBR1.
PaxDbiQ9UBR1.
PeptideAtlasiQ9UBR1.
PRIDEiQ9UBR1.

PTM databases

iPTMnetiQ9UBR1.
PhosphoSitePlusiQ9UBR1.

Expressioni

Gene expression databases

BgeeiENSG00000100024.
CleanExiHS_UPB1.
ExpressionAtlasiQ9UBR1. baseline and differential.
GenevisibleiQ9UBR1. HS.

Organism-specific databases

HPAiHPA000728.

Interactioni

Protein-protein interaction databases

BioGridi119703. 1 interactor.
MINTiMINT-5005710.
STRINGi9606.ENSP00000324343.

Structurei

3D structure databases

ProteinModelPortaliQ9UBR1.
SMRiQ9UBR1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini72 – 366CN hydrolasePROSITE-ProRule annotationAdd BLAST295

Sequence similaritiesi

Contains 1 CN hydrolase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0808. Eukaryota.
COG0388. LUCA.
GeneTreeiENSGT00390000004906.
HOVERGENiHBG018848.
InParanoidiQ9UBR1.
KOiK01431.
OMAiRILYGVE.
OrthoDBiEOG091G087Q.
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)DescriptionActionsGraphical viewLength
Sequence conflicti263L → LRSL in AAF06739 (PubMed:10542323).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02675285A → E in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant rs34035085dbSNPEnsembl.1
Natural variantiVAR_050280340A → D.Corresponds to variant rs34110964dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9UBR1.
SMRiQ9UBR1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119703. 1 interactor.
MINTiMINT-5005710.
STRINGi9606.ENSP00000324343.

Chemistry databases

ChEMBLiCHEMBL3430874.

PTM databases

iPTMnetiQ9UBR1.
PhosphoSitePlusiQ9UBR1.

Polymorphism and mutation databases

BioMutaiUPB1.
DMDMi17373540.

Proteomic databases

MaxQBiQ9UBR1.
PaxDbiQ9UBR1.
PeptideAtlasiQ9UBR1.
PRIDEiQ9UBR1.

Protocols and materials databases

DNASUi51733.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326010; ENSP00000324343; ENSG00000100024.
GeneIDi51733.
KEGGihsa:51733.
UCSCiuc003aaf.4. human.

Organism-specific databases

CTDi51733.
DisGeNETi51733.
GeneCardsiUPB1.
HGNCiHGNC:16297. UPB1.
HPAiHPA000728.
MalaCardsiUPB1.
MIMi606673. gene.
613161. phenotype.
neXtProtiNX_Q9UBR1.
OpenTargetsiENSG00000100024.
Orphaneti65287. Beta-ureidopropionase deficiency.
PharmGKBiPA418.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0808. Eukaryota.
COG0388. LUCA.
GeneTreeiENSGT00390000004906.
HOVERGENiHBG018848.
InParanoidiQ9UBR1.
KOiK01431.
OMAiRILYGVE.
OrthoDBiEOG091G087Q.
PhylomeDBiQ9UBR1.
TreeFamiTF313402.

Enzyme and pathway databases

UniPathwayiUPA00131.
BioCyciMetaCyc:HS01953-MONOMER.
ZFISH:HS01953-MONOMER.
BRENDAi3.5.1.6. 2681.
ReactomeiR-HSA-73621. Pyrimidine catabolism.

Miscellaneous databases

GeneWikiiUPB1.
GenomeRNAii51733.
PROiQ9UBR1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100024.
CleanExiHS_UPB1.
ExpressionAtlasiQ9UBR1. baseline and differential.
GenevisibleiQ9UBR1. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 136 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.