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Entry version 161 (29 Sep 2021)
Sequence version 1 (01 May 2000)
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Protein

Beta-ureidopropionase

Gene

UPB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes a late step in pyrimidine degradation (PubMed:22525402, PubMed:24526388).

Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide (PubMed:10542323, PubMed:11508704, PubMed:10415095, PubMed:29976570, PubMed:22525402, PubMed:24526388).

Likewise, converts N-carbamoyl-beta-aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable).

2 Publications6 Publications

Caution

The purified enzyme was shown to contain 0.5 zinc atoms per subunit, and sequence analysis was used to predict the zinc binding site (PubMed:11508704). The crystal structure indicates a lack of bound zinc ions, and shows that the residues that were predicted to bind zinc are too far apart in space to form a zinc binding site (PubMed:29976570).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Strongly inhibited by 50 mM Zn2+. Not inhibited by EDTA. Competitively inhibited by beta-alanine, 5-aminolevulinic acid (ALA), beta-aminoisobutyrate and 4-ureidobutyrate.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 0.47 sec(-1) with N-carbamoyl-beta-alanine as substrate.1 Publication
  1. KM=15.5 µM for N-carbamoyl-beta-alanine1 Publication
  2. KM=48 µM for N-carbamoyl-beta-alanine1 Publication

pH dependencei

Optimum pH is 6.5.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: beta-alanine biosynthesis

This protein is involved in the pathway beta-alanine biosynthesis, which is part of Amino-acid biosynthesis.6 Publications
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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei119Proton acceptorPROSITE-ProRule annotation1
Active sitei196Proton donorPROSITE-ProRule annotation1
Active sitei233NucleophilePROSITE-ProRule annotation1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS01953-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.5.1.6, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9UBR1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-73621, Pyrimidine catabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00131

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Beta-ureidopropionase (EC:3.5.1.66 Publications)
Alternative name(s):
BUP-11 Publication
Beta-alanine synthase
N-carbamoyl-beta-alanine amidohydrolase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UPB1
Synonyms:BUP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16297, UPB1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606673, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UBR1

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000100024

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Beta-ureidopropionase deficiency (UPB1D)3 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08120713L → S in UPB1D; strongly reduced activity; reduced formation of higher oligomers. 2 PublicationsCorresponds to variant dbSNP:rs200688546Ensembl.1
Natural variantiVAR_02675285A → E in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs34035085EnsemblClinVar.1
Natural variantiVAR_081208235G → R in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs766196011Ensembl.1
Natural variantiVAR_081209236R → W in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs144135211Ensembl.1
Natural variantiVAR_081210264S → R in UPB1D; complete loss of activity. 1 Publication1
Natural variantiVAR_081211271E → K in UPB1D; complete loss of activity; abolishes formation of higher oligomers. 1 PublicationCorresponds to variant dbSNP:rs747454154Ensembl.1
Natural variantiVAR_081212286I → T in UPB1D; unknown pathological significance; mildly reduced enzyme activity; no effect on formation of higher oligomers. 1 PublicationCorresponds to variant dbSNP:rs200034079Ensembl.1
Natural variantiVAR_081213326R → Q in UPB1D; complete loss of activity; abolishes formation of higher oligomers. 2 PublicationsCorresponds to variant dbSNP:rs118163237EnsemblClinVar.1
Natural variantiVAR_081214359T → M in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs369879221EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi130R → I: Loss of catalytic activity. 1 Publication1
Mutagenesisi132K → L: Loss of catalytic activity. Forms dimers, but no higher oligomers. 1 Publication1
Mutagenesisi208S → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi208S → C: Loss of catalytic activity. Forms dimers, but no higher oligomers. 1 Publication1
Mutagenesisi208S → R: Loss of catalytic activity. Forms dimers, but no higher oligomers. 1 Publication1
Mutagenesisi233C → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi299T → C: Loss of catalytic activity. Forms dimers, but no higher oligomers. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
51733

MalaCards human disease database

More...
MalaCardsi
UPB1
MIMi613161, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100024

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
65287, Beta-ureidopropionase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA418

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UBR1, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3430874

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
UPB1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17373540

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002040511 – 384Beta-ureidopropionaseAdd BLAST384

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei378PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UBR1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9UBR1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UBR1

PeptideAtlas

More...
PeptideAtlasi
Q9UBR1

PRoteomics IDEntifications database

More...
PRIDEi
Q9UBR1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
84035

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UBR1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UBR1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in liver (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100024, Expressed in right lobe of liver and 199 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UBR1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UBR1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000100024, Tissue enriched (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer, homotetramer, homooctamer; can also form higher homooligomers.

3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
119703, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000324343

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UBR1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1384
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UBR1

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini72 – 344CN hydrolasePROSITE-ProRule annotationAdd BLAST273

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0808, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004906

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_030130_4_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UBR1

Identification of Orthologs from Complete Genome Data

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OMAi
CFQELFY

Database of Orthologous Groups

More...
OrthoDBi
996578at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UBR1

TreeFam database of animal gene trees

More...
TreeFami
TF313402

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.60.110.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003010, C-N_Hydrolase
IPR036526, C-N_Hydrolase_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00795, CN_hydrolase, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56317, SSF56317, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50263, CN_HYDROLASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i62B81982D2D63CC3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6AHZ8Q6AHZ8_HUMAN
Beta-ureidopropionase
UPB1 DKFZp779O1248
186Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WC94F8WC94_HUMAN
Beta-ureidopropionase
UPB1
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti263L → LRSL in AAF06739 (PubMed:10542323).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08120713L → S in UPB1D; strongly reduced activity; reduced formation of higher oligomers. 2 PublicationsCorresponds to variant dbSNP:rs200688546Ensembl.1
Natural variantiVAR_02675285A → E in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs34035085EnsemblClinVar.1
Natural variantiVAR_081208235G → R in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs766196011Ensembl.1
Natural variantiVAR_081209236R → W in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs144135211Ensembl.1
Natural variantiVAR_081210264S → R in UPB1D; complete loss of activity. 1 Publication1
Natural variantiVAR_081211271E → K in UPB1D; complete loss of activity; abolishes formation of higher oligomers. 1 PublicationCorresponds to variant dbSNP:rs747454154Ensembl.1
Natural variantiVAR_081212286I → T in UPB1D; unknown pathological significance; mildly reduced enzyme activity; no effect on formation of higher oligomers. 1 PublicationCorresponds to variant dbSNP:rs200034079Ensembl.1
Natural variantiVAR_081213326R → Q in UPB1D; complete loss of activity; abolishes formation of higher oligomers. 2 PublicationsCorresponds to variant dbSNP:rs118163237EnsemblClinVar.1
Natural variantiVAR_050280340A → D. Corresponds to variant dbSNP:rs34110964Ensembl.1
Natural variantiVAR_081214359T → M in UPB1D; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs369879221EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF163312 mRNA Translation: AAF06735.1
AF169559 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

The Consensus CDS (CCDS) project

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CCDSi
CCDS13827.1

NCBI Reference Sequences

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RefSeqi
NP_057411.1, NM_016327.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000326010; ENSP00000324343; ENSG00000100024

Database of genes from NCBI RefSeq genomes

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GeneIDi
51733

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51733

UCSC genome browser

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UCSCi
uc003aaf.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF163312 mRNA Translation: AAF06735.1
AF169559 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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6FTQX-ray2.08A1-384[»]
SMRiQ9UBR1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119703, 1 interactor
STRINGi9606.ENSP00000324343

Chemistry databases

ChEMBLiCHEMBL3430874

PTM databases

iPTMnetiQ9UBR1
PhosphoSitePlusiQ9UBR1

Genetic variation databases

BioMutaiUPB1
DMDMi17373540

Proteomic databases

MassIVEiQ9UBR1
MaxQBiQ9UBR1
PaxDbiQ9UBR1
PeptideAtlasiQ9UBR1
PRIDEiQ9UBR1
ProteomicsDBi84035

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
252, 91 antibodies

The DNASU plasmid repository

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DNASUi
51733

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51733
DisGeNETi51733

GeneCards: human genes, protein and diseases

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GeneCardsi
UPB1
HGNCiHGNC:16297, UPB1
HPAiENSG00000100024, Tissue enriched (liver)
MalaCardsiUPB1
MIMi606673, gene
613161, phenotype
neXtProtiNX_Q9UBR1
OpenTargetsiENSG00000100024
Orphaneti65287, Beta-ureidopropionase deficiency
PharmGKBiPA418
VEuPathDBiHostDB:ENSG00000100024

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0808, Eukaryota
GeneTreeiENSGT00390000004906
HOGENOMiCLU_030130_4_1_1
InParanoidiQ9UBR1
OMAiCFQELFY
OrthoDBi996578at2759
PhylomeDBiQ9UBR1
TreeFamiTF313402

Enzyme and pathway databases

UniPathwayiUPA00131
BioCyciMetaCyc:HS01953-MONOMER
BRENDAi3.5.1.6, 2681
PathwayCommonsiQ9UBR1
ReactomeiR-HSA-73621, Pyrimidine catabolism

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
51733, 4 hits in 1009 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
UPB1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
UPB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51733
PharosiQ9UBR1, Tbio

Protein Ontology

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PROi
PR:Q9UBR1
RNActiQ9UBR1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100024, Expressed in right lobe of liver and 199 other tissues
ExpressionAtlasiQ9UBR1, baseline and differential
GenevisibleiQ9UBR1, HS

Family and domain databases

Gene3Di3.60.110.10, 1 hit
InterProiView protein in InterPro
IPR003010, C-N_Hydrolase
IPR036526, C-N_Hydrolase_sf
PfamiView protein in Pfam
PF00795, CN_hydrolase, 1 hit
SUPFAMiSSF56317, SSF56317, 1 hit
PROSITEiView protein in PROSITE
PS50263, CN_HYDROLASE, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBUP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UBR1
Secondary accession number(s): A3KMF8, Q9UIR3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 1, 2000
Last modified: September 29, 2021
This is version 161 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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