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

    Gene ID: 51733, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:16297
    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
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    Genomic context

    See UPB1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24495332..24528390)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24956949..24989995)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24891300..24924358)

    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 ATAC-STARR-seq lymphoblastoid active region 18769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24804357-24804858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24804859-24805358 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24813636-24813812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24814323-24814932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24816151-24816760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24817371-24817980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24820284-24820935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24820936-24821586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24825428-24826389 Neighboring gene ADORA2A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24829365-24829914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24831043-24831543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13551 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24840685-24840876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13552 Neighboring gene adenosine A2a receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18773 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24875502-24875689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24901494-24902032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24902033-24902569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18776 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24905414-24905687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24957881-24958382 Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene uncharacterized LOC124905091 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-ureidopropionase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-ureidopropionase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in UMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in beta-alanine biosynthetic process via 3-ureidopropionate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in beta-alanine biosynthetic process via 3-ureidopropionate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dCMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dUMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyrimidine nucleoside catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in 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_011528525.1
    XP_047297360.1
    XP_047297361.1
    XP_054181664.1
    XP_054181665.1
    XP_054181666.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A3KMF8, Q9UBR1, Q9UIR3
      UniProtKB/TrEMBL
      B2RBM2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24495332..24528390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441404.1XP_047297360.1  beta-ureidopropionase isoform X1

    2. XM_047441405.1XP_047297361.1  beta-ureidopropionase isoform X3

    3. XM_011530223.3XP_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

    RNA

    1. XR_001755249.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24956949..24989995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325689.1XP_054181664.1  beta-ureidopropionase isoform X1

    2. XM_054325691.1XP_054181666.1  beta-ureidopropionase isoform X3

    3. XM_054325690.1XP_054181665.1  beta-ureidopropionase isoform X2

    RNA

    1. XR_008485400.1 RNA Sequence