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Aliases for UPB1 Gene

Aliases for UPB1 Gene

  • Beta-Ureidopropionase 1 2 3 5
  • N-Carbamoyl-Beta-Alanine Amidohydrolase 3 4
  • Ureidopropionase, Beta 2 3
  • Beta-Alanine Synthase 3 4
  • EC 4 58
  • BUP1 3 4
  • Beta-Ureidopropionase 3
  • BUP-1 4

External Ids for UPB1 Gene

Previous GeneCards Identifiers for UPB1 Gene

  • GC22P021587
  • GC22P023187
  • GC22P023215
  • GC22P023221
  • GC22P024891
  • GC22P007840

Summaries for UPB1 Gene

Entrez Gene Summary for UPB1 Gene

  • 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]

GeneCards Summary for UPB1 Gene

UPB1 (Beta-Ureidopropionase 1) is a Protein Coding gene. Diseases associated with UPB1 include Beta-Ureidopropionase Deficiency and Partial Optic Atrophy. Among its related pathways are Beta-alanine metabolism (TR) and Metabolism. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and beta-ureidopropionase activity.

UniProtKB/Swiss-Prot for UPB1 Gene

  • Converts N-carbamoyl-beta-aminoisobutyrate and N-carbamoyl-beta-alanine (3-ureidopropanoate) to, respectively, beta-aminoisobutyrate and beta-alanine, ammonia and carbon dioxide.

Gene Wiki entry for UPB1 Gene

Additional gene information for UPB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UPB1 Gene

Genomics for UPB1 Gene

Regulatory Elements for UPB1 Gene

Enhancers for UPB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H024548 2 FANTOM5 Ensembl ENCODE dbSUPER 16.1 +59.4 59355 8.9 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A SPECC1L ENSG00000272973 ZNF70 SGSM1 UPB1 ADORA2A ARL5AP4 LOC100421614 CRIP1P4 RPS10P29
GH22H024459 1.1 Ensembl ENCODE dbSUPER 26.2 -33.5 -33521 1.7 CTCF ZIC2 ZNF518A MEF2D SMARCA4 POLR2A IKZF1 GLIS1 PRDM4 UPB1 ADORA2A-AS1 ADORA2A SPECC1L ENSG00000228923 BCRP3 GC22P024440 GC22P024441
GH22H024449 1 Ensembl ENCODE dbSUPER 27.1 -43.4 -43441 1.5 BCOR POLR2A ADNP ZMYM3 RCOR1 UPB1 ADORA2A-AS1 ADORA2A SPECC1L ENSG00000228923 GC22P024441 GC22P024440
GH22H024425 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -62.2 -62150 13.9 HDGF PKNOX1 SIN3A YY1 GLIS2 ZNF143 ZNF207 ATF7 RUNX3 JUNB POM121L9P UPB1 ADORA2A-AS1 SPECC1L ENSG00000232545 SMARCB1 ZNF70 ENSG00000272578 BCRP3 GGTLC4P
GH22H024399 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -92.2 -92180 4.7 HDGF PKNOX1 SIN3A FEZF1 ZNF2 ATF7 FOS RUNX3 JUNB REST POM121L9P SPECC1L UPB1 ENSG00000228923 ADORA2A-AS1 GGT1 LOC105372960 SPECC1L-ADORA2A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UPB1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for UPB1 Gene

Genomic Locations for UPB1 Gene
34,284 bases
Plus strand

Genomic View for UPB1 Gene

Genes around UPB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPB1 Gene

Proteins for UPB1 Gene

  • Protein details for UPB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A3KMF8
    • Q9UIR3

    Protein attributes for UPB1 Gene

    384 amino acids
    Molecular mass:
    43166 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for UPB1 Gene

Selected DME Specific Peptides for UPB1 Gene


Post-translational modifications for UPB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for UPB1 Gene

Gene Families for UPB1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UPB1 Gene

Suggested Antigen Peptide Sequences for UPB1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the carbon-nitrogen hydrolase superfamily. BUP family.
  • Belongs to the carbon-nitrogen hydrolase superfamily. BUP family.
genes like me logo Genes that share domains with UPB1: view

Function for UPB1 Gene

Molecular function for UPB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-ureidopropanoate + H(2)O = beta-alanine + CO(2) + NH(3).
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosteric enzyme with positive cooperativity toward the substrate N-carbamoyl-beta-alanine.
UniProtKB/Swiss-Prot Function:
Converts N-carbamoyl-beta-aminoisobutyrate and N-carbamoyl-beta-alanine (3-ureidopropanoate) to, respectively, beta-aminoisobutyrate and beta-alanine, ammonia and carbon dioxide.

Enzyme Numbers (IUBMB) for UPB1 Gene

Gene Ontology (GO) - Molecular Function for UPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003837 beta-ureidopropionase activity EXP 15385443
GO:0016787 hydrolase activity IEA --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UPB1: view
genes like me logo Genes that share phenotypes with UPB1: view

Human Phenotype Ontology for UPB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UPB1 Gene

Localization for UPB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UPB1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UPB1 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for UPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with UPB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UPB1 Gene

Pathways & Interactions for UPB1 Gene

genes like me logo Genes that share pathways with UPB1: view

UniProtKB/Swiss-Prot Q9UBR1-BUP1_HUMAN

  • Pathway: Amino-acid biosynthesis; beta-alanine biosynthesis.

Gene Ontology (GO) - Biological Process for UPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006807 nitrogen compound metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0019483 beta-alanine biosynthetic process IEA --
GO:0046135 pyrimidine nucleoside catabolic process TAS --
genes like me logo Genes that share ontologies with UPB1: view

No data available for SIGNOR curated interactions for UPB1 Gene

Drugs & Compounds for UPB1 Gene

(4) Drugs for UPB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Carbon dioxide Approved, Vet_approved Pharma 0
Water Approved Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist 0

(10) Additional Compounds for UPB1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Aminoisobutanoic acid
  • (+/-)-3-Amino-2-methylpropanoate
  • (+/-)-3-Amino-2-methylpropanoic acid
  • (+/-)-3-Aminoisobutyric acid
  • (+/-)-b-Aminoisobutyric acid
  • (+/-)-beta-Aminoisobutyric acid
alpha-Fluoro-beta-ureidopropionic acid
Ureidoisobutyric acid
  • 3-Carbamoylamino-2-methylpropanoate
  • 3-Carbamoylamino-2-methylpropanoic acid
  • 3-Ureidoisobutyrate
  • 3-Ureidoisobutyric acid
  • beta-Uba
Ureidopropionic acid
  • 3-(Carbamoylamino)propanoate
  • 3-(Carbamoylamino)propanoic acid
  • 3-Ureido-propionate
  • 3-Ureidopropanoate
  • 3-Ureidopropanoic acid
genes like me logo Genes that share compounds with UPB1: view

Transcripts for UPB1 Gene

Unigene Clusters for UPB1 Gene

Ureidopropionase, beta:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UPB1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - -
SP2: - - - -
SP4: - - - -

Relevant External Links for UPB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UPB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UPB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UPB1 Gene

This gene is overexpressed in Liver (x35.2) and Kidney - Cortex (x7.4).

Protein differential expression in normal tissues from HIPED for UPB1 Gene

This gene is overexpressed in Liver, secretome (48.2), Liver (9.6), and Gallbladder (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UPB1 Gene

Protein tissue co-expression partners for UPB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UPB1 Gene:


SOURCE GeneReport for Unigene cluster for UPB1 Gene:


Evidence on tissue expression from TISSUES for UPB1 Gene

  • Liver(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UPB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • head
  • kidney
  • ureter
  • urinary bladder
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with UPB1: view

No data available for mRNA Expression by UniProt/SwissProt for UPB1 Gene

Orthologs for UPB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UPB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia UPB1 33 34
  • 99.74 (n)
(Canis familiaris)
Mammalia UPB1 33 34
  • 87.76 (n)
(Bos Taurus)
Mammalia UPB1 33 34
  • 83.42 (n)
(Mus musculus)
Mammalia Upb1 33 16 34
  • 83.25 (n)
(Rattus norvegicus)
Mammalia Upb1 33
  • 82.9 (n)
(Monodelphis domestica)
Mammalia UPB1 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia UPB1 34
  • 73 (a)
(Gallus gallus)
Aves UPB1 33 34
  • 73.54 (n)
(Anolis carolinensis)
Reptilia UPB1 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia upb1 33
  • 71.37 (n)
(Danio rerio)
Actinopterygii upb1 33 34
  • 70.49 (n)
wufb69e03 33
fruit fly
(Drosophila melanogaster)
Insecta pyd3 35 33 34
  • 62.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010229 33
  • 61.28 (n)
(Caenorhabditis elegans)
Secernentea F13H8.7 35
  • 62 (a)
upb-1 33 34
  • 60.4 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons BETA-UP 33
  • 58.09 (n)
(Glycine max)
eudicotyledons Gma.11275 33
(Oryza sativa)
Liliopsida Os07g0485100 33
  • 58.93 (n)
Os.8024 33
(Hordeum vulgare)
Liliopsida Hv.11047 33
(Triticum aestivum)
Liliopsida Ta.14887 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3091 34
  • 67 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3055 33
Species where no ortholog for UPB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UPB1 Gene

Gene Tree for UPB1 (if available)
Gene Tree for UPB1 (if available)

Paralogs for UPB1 Gene

(1) SIMAP similar genes for UPB1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with UPB1: view

No data available for Paralogs for UPB1 Gene

Variants for UPB1 Gene

Sequence variations from dbSNP and Humsavar for UPB1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs34035085 Pathogenic, Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] 24,500,256(+) CCCCG(A/C/T)AAATG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121908066 Pathogenic 24,500,211(+) ACCCC(A/C/G)CATTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs138081800 Pathogenic 24,500,105(+) CATCT(A/G)GGAAG splice-acceptor-variant
rs747539101 Pathogenic 24,520,469(+) GCACC(A/G)TAAGT splice-donor-variant
rs876657373 Pathogenic 24,523,617(+) TTTAA(A/G)GCTCA intron-variant, splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for UPB1 Gene

Variant ID Type Subtype PubMed ID
nsv9884 CNV gain+loss 18304495
nsv834160 CNV gain 17160897
nsv7350 OTHER inversion 18451855
nsv588744 CNV gain 21841781
nsv526567 CNV gain 19592680
nsv1110863 OTHER inversion 24896259
nsv1057819 CNV gain 25217958
nsv1055830 CNV gain 25217958
esv3893463 CNV gain 25118596
esv3575443 CNV gain 25503493
esv2724068 CNV deletion 23290073
esv2724041 CNV deletion 23290073
dgv8039n54 CNV gain 21841781
dgv4528n100 CNV gain 25217958

Variation tolerance for UPB1 Gene

Residual Variation Intolerance Score: 87.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UPB1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UPB1 Gene

Disorders for UPB1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UPB1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
beta-ureidopropionase deficiency
  • beta-alanine synthase deficiency
partial optic atrophy
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
urea cycle disorder
  • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
- elite association - COSMIC cancer census association via MalaCards
Search UPB1 in MalaCards View complete list of genes associated with diseases


  • Beta-ureidopropionase deficiency (UPB1D) [MIM:613161]: An 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. {ECO:0000269 PubMed:15385443}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UPB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with UPB1: view

No data available for Genatlas for UPB1 Gene

Publications for UPB1 Gene

  1. cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. (PMID: 10542323) Vreken P … van Gennip AH (Biochimica et biophysica acta 1999) 2 3 4 22 60
  2. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PMID: 18075467) Thomas HR … Diasio RB (Pharmacogenetics and genomics 2007) 3 22 45 60
  3. beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (PMID: 15385443) van Kuilenburg AB … van Gennip AH (Human molecular genetics 2004) 3 4 22 60
  4. Expression and properties of human liver beta-ureidopropionase. (PMID: 11508704) Sakamoto T … Tamaki N (Journal of nutritional science and vitaminology 2001) 3 4 22 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for UPB1 Gene

Sources for UPB1 Gene

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