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Entry version 150 (18 Sep 2019)
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

    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

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    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 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.
    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; compound heterozygous with Q-326; 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 mutation

    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

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3430874

    Polymorphism and mutation 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.<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

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9UBR1

    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 human 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 185 organ(s), highest expression level in right lobe of liver

    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
    HPA000728

    <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

    <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...

    <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
    COG0388 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000004906

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9UBR1

    KEGG Orthology (KO)

    More...
    KOi
    K01431

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    LVQNRTP

    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; compound heterozygous with Q-326; 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

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    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

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS13827.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_057411.1, NM_016327.2

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000326010; ENSP00000324343; ENSG00000100024

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    51733

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:51733

    UCSC genome browser

    More...
    UCSCi
    uc003aaf.4 human

    Keywords - Coding sequence diversityi

    Polymorphism

    <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
    , 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

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

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    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

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

    Protein-protein interaction databases

    BioGridi119703, 1 interactor
    STRINGi9606.ENSP00000324343

    Chemistry databases

    ChEMBLiCHEMBL3430874

    PTM databases

    iPTMnetiQ9UBR1
    PhosphoSitePlusiQ9UBR1

    Polymorphism and mutation databases

    BioMutaiUPB1
    DMDMi17373540

    Proteomic databases

    jPOSTiQ9UBR1
    MassIVEiQ9UBR1
    MaxQBiQ9UBR1
    PaxDbiQ9UBR1
    PeptideAtlasiQ9UBR1
    PRIDEiQ9UBR1
    ProteomicsDBi84035

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    51733
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    51733
    DisGeNETi51733

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    UPB1
    HGNCiHGNC:16297 UPB1
    HPAiHPA000728
    MalaCardsiUPB1
    MIMi606673 gene
    613161 phenotype
    neXtProtiNX_Q9UBR1
    OpenTargetsiENSG00000100024
    Orphaneti65287 Beta-ureidopropionase deficiency
    PharmGKBiPA418

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0808 Eukaryota
    COG0388 LUCA
    GeneTreeiENSGT00390000004906
    InParanoidiQ9UBR1
    KOiK01431
    OMAiLVQNRTP
    OrthoDBi996578at2759
    PhylomeDBiQ9UBR1
    TreeFamiTF313402

    Enzyme and pathway databases

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

    Miscellaneous databases

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    UPB1

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

    More...
    GenomeRNAii
    51733

    Pharos

    More...
    Pharosi
    Q9UBR1

    Protein Ontology

    More...
    PROi
    PR:Q9UBR1

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000100024 Expressed in 185 organ(s), highest expression level in right lobe of liver
    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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    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 18, 2019
    This is version 150 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, Complete proteome, Reference proteome

    Documents

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