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

Gene ID: 51733, updated on 5-Aug-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24495332..24528390)
110 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 ADORA2A antisense RNA 1 Neighboring gene adenosine A2a receptor 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

Homology

Gene Ontology Provided by GOA

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
PubMed 
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

NCBI Reference Sequences (RefSeq)

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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, Q9UIR3
    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 Annotation Release 110 details...Open this link in a new tab

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)