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    UPB1 beta-ureidopropionase 1 [ Homo sapiens (human) ]

    Gene ID: 51733, updated on 21-Dec-2019

    Summary

    Official Symbol
    UPB1provided by HGNC
    Official Full Name
    beta-ureidopropionase 1provided by HGNC
    Primary source
    HGNC:HGNC:16297
    See related
    Ensembl:ENSG00000100024 MIM:606673
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BUP1
    Summary
    This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in liver (RPKM 34.8) and kidney (RPKM 13.3) See more
    Orthologs

    Genomic context

    See UPB1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (24495060..24528681)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24863344..24922553)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SPECC1L-ADORA2A readthrough (NMD candidate) Neighboring gene sperm antigen with calponin homology and coiled-coil domains 1 like Neighboring gene uncharacterized LOC105372960 Neighboring gene ADORA2A antisense RNA 1 Neighboring gene adenosine A2a receptor Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene leucine rich repeat containing 75B Neighboring gene gamma-glutamyltransferase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Deficiency of beta-ureidopropionase
    MedGen: C1291512 OMIM: 613161 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    beta-ureidopropionase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    beta-ureidopropionase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    beta-alanine biosynthetic process via 3-ureidopropionate IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    beta-alanine biosynthetic process via 3-ureidopropionate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-alanine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyrimidine nucleoside catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pyrimidine nucleoside catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    beta-ureidopropionase
    Names
    beta-alanine synthase
    n-carbamoyl-beta-alanine amidohydrolase
    ureidopropionase, beta
    NP_057411.1
    XP_011528524.1
    XP_011528525.1
    XP_011528526.1
    XP_011528527.1
    XP_016884314.1
    XP_016884315.1
    XP_016884316.1
    XP_016884317.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012858.2 RefSeqGene

      Range
      5050..38108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016327.3NP_057411.1  beta-ureidopropionase

      See identical proteins and their annotated locations for NP_057411.1

      Status: REVIEWED

      Source sequence(s)
      AP000355, BC033388, CR456375
      Consensus CDS
      CCDS13827.1
      UniProtKB/Swiss-Prot
      Q9UBR1
      UniProtKB/TrEMBL
      A0A024R1H3, B3KNC1
      Related
      ENSP00000324343.5, ENST00000326010.10
      Conserved Domains (1) summary
      cd07587
      Location:9371
      ML_beta-AS; mammalian-like beta-alanine synthase (beta-AS) and similar proteins (class 5 nitrilases)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      24495060..24528681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530222.2XP_011528524.1  beta-ureidopropionase isoform X1

      Conserved Domains (2) summary
      cd07587
      Location:9398
      ML_beta-AS; mammalian-like beta-alanine synthase (beta-AS) and similar proteins (class 5 nitrilases)
      PLN00202
      Location:6411
      PLN00202; beta-ureidopropionase
    2. XM_017028826.1XP_016884315.1  beta-ureidopropionase isoform X5

    3. XM_011530224.2XP_011528526.1  beta-ureidopropionase isoform X3

      Conserved Domains (2) summary
      PLN00202
      Location:6345
      PLN00202; beta-ureidopropionase
      cl11424
      Location:9318
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes
    4. XM_017028825.1XP_016884314.1  beta-ureidopropionase isoform X4

    5. XM_017028828.1XP_016884317.1  beta-ureidopropionase isoform X7

    6. XM_017028827.2XP_016884316.1  beta-ureidopropionase isoform X6

    7. XM_011530223.2XP_011528525.1  beta-ureidopropionase isoform X2

      Conserved Domains (1) summary
      cl11424
      Location:9318
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes
    8. XM_011530225.2XP_011528527.1  beta-ureidopropionase isoform X8

      Conserved Domains (1) summary
      cl11424
      Location:1249
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

    RNA

    1. XR_937867.2 RNA Sequence

    2. XR_001755250.1 RNA Sequence

    3. XR_001755249.1 RNA Sequence

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