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Aliases for UPB1 Gene

Aliases for UPB1 Gene

  • Ureidopropionase, Beta 2 3 5
  • N-Carbamoyl-Beta-Alanine Amidohydrolase 3 4
  • Beta-Alanine Synthase 3 4
  • EC 3.5.1.6 4 63
  • BUP1 3 4
  • Beta-Ureidopropionase 2
  • 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 (Ureidopropionase, Beta) 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 (KEGG) and Porphyrin and chlorophyll 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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UPB1 on UCSC Golden Path with GeneCards custom track

Promoters for UPB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UPB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UPB1 Gene

Chromosome:
22
Start:
24,494,107 bp from pter
End:
24,528,390 bp from pter
Size:
34,284 bases
Orientation:
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:
    Q9UBR1-BUP1_HUMAN
    Recommended name:
    Beta-ureidopropionase
    Protein Accession:
    Q9UBR1
    Secondary Accessions:
    • A3KMF8
    • Q9UIR3

    Protein attributes for UPB1 Gene

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

neXtProt entry for UPB1 Gene

Proteomics data for UPB1 Gene at MOPED

Selected DME Specific Peptides for UPB1 Gene

Post-translational modifications for UPB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UPB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UPB1 Gene

Protein Domains for UPB1 Gene

Suggested Antigen Peptide Sequences for UPB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBR1

UniProtKB/Swiss-Prot:

BUP1_HUMAN :
  • Contains 1 CN hydrolase domain.
  • Belongs to the carbon-nitrogen hydrolase superfamily. BUP family.
Domain:
  • Contains 1 CN hydrolase domain.
Family:
  • Belongs to the carbon-nitrogen hydrolase superfamily. BUP family.
genes like me logo Genes that share domains with UPB1: view

No data available for Gene Families for UPB1 Gene

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

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UPB1 Gene COMPARTMENTS Subcellular localization image for UPB1 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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:0019483 beta-alanine biosynthetic process IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0046135 pyrimidine nucleoside catabolic process TAS --
GO:0055086 nucleobase-containing small molecule metabolic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

(13) 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
144-90-1
alpha-fluoro-beta-alanine
alpha-Fluoro-beta-ureidopropionic acid
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
genes like me logo Genes that share compounds with UPB1: view

Transcripts for UPB1 Gene

Unigene Clusters for UPB1 Gene

Ureidopropionase, beta:
Representative Sequences:

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: - - - -
SP3:
SP4: - - - -
SP5:

Relevant External Links for UPB1 Gene

GeneLoc Exon Structure for
UPB1
ECgene alternative splicing isoforms for
UPB1

Expression for UPB1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for UPB1 Gene Hs.731656

genes like me logo Genes that share expression patterns with UPB1: view

Protein tissue co-expression partners for UPB1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia UPB1 35
  • 83.42 (n)
  • 87.24 (a)
UPB1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UPB1 35
  • 87.76 (n)
  • 89.58 (a)
UPB1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Upb1 35
  • 83.25 (n)
  • 85.68 (a)
Upb1 16
Upb1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UPB1 35
  • 99.74 (n)
  • 100 (a)
UPB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Upb1 35
  • 82.9 (n)
  • 84.64 (a)
oppossum
(Monodelphis domestica)
Mammalia UPB1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPB1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPB1 35
  • 73.54 (n)
  • 79.63 (a)
UPB1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UPB1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia upb1 35
  • 71.37 (n)
  • 78.07 (a)
zebrafish
(Danio rerio)
Actinopterygii upb1 35
  • 70.49 (n)
  • 76.04 (a)
wufb69e03 35
upb1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pyd3 37
  • 63 (a)
pyd3 35
  • 62.07 (n)
  • 64.06 (a)
pyd3 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010229 35
  • 61.28 (n)
  • 65.36 (a)
worm
(Caenorhabditis elegans)
Secernentea F13H8.7 37
  • 62 (a)
upb-1 35
  • 60.4 (n)
  • 62.14 (a)
upb-1 36
  • 61 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons BETA-UP 35
  • 58.09 (n)
  • 60.74 (a)
soybean
(Glycine max)
eudicotyledons Gma.11275 35
barley
(Hordeum vulgare)
Liliopsida Hv.11047 35
rice
(Oryza sativa)
Liliopsida Os.8024 35
Os07g0485100 35
  • 58.93 (n)
  • 57.87 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.14887 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3055 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3091 36
  • 67 (a)
OneToOne
Species with no ortholog for UPB1:
  • 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

ENSEMBL:
Gene Tree for UPB1 (if available)
TreeFam:
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 Beta-ureidopropionase deficiency (BUPD) 24,500,256(+) CCCCG(A/C/T)AAATG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs34110964 - 24,523,721(+) AGTTG(A/C)TAAGC intron-variant, nc-transcript-variant, reference, missense
rs1314 -- 24,526,484(-) ggcag(A/C)ctgtc nc-transcript-variant, utr-variant-3-prime
rs131452 -- 24,509,746(+) ATACA(-/T)TAACA intron-variant
rs131453 -- 24,510,066(+) catct(C/T)tacta intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
esv2724041 CNV Deletion 23290073
nsv526567 CNV Gain 19592680
nsv914599 CNV Gain 21882294
nsv914629 CNV Gain 21882294
esv2724068 CNV Deletion 23290073
nsv834160 CNV Gain 17160897
nsv9884 CNV Gain+Loss 18304495

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

HapMap Linkage Disequilibrium report
UPB1
Human Gene Mutation Database (HGMD)
UPB1

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

Disorders for UPB1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
beta-ureidopropionase deficiency
  • beta-ureidopropionase
partial optic atrophy
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search UPB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BUP1_HUMAN
  • Beta-ureidopropionase deficiency (BUPD) [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)
UPB1
Human Genome Epidemiology (HuGE) Navigator
UPB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UPB1
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 A.H. (Biochim. Biophys. Acta 1999) 2 3 4 23 67
  2. Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. (PMID: 18216719) Thomas H.R. … Diasio R.B. (Pharmacogenet. Genomics 2008) 3 23
  3. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PMID: 18075467) Thomas H.R. … Diasio R.B. (Pharmacogenet. Genomics 2007) 3 23
  4. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. (PMID: 17065070) van Kuilenburg A.B. … van Gennip A.H. (Nucleosides Nucleotides Nucleic Acids 2006) 3 23
  5. Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (PMID: 15385443) van Kuilenburg A.B.P. … van Gennip A.H. (Hum. Mol. Genet. 2004) 3 23

Products for UPB1 Gene

Sources for UPB1 Gene

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