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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
  • Beta-Ureidopropionase 3 4
  • EC 3.5.1.6 4 56
  • BUP1 3 4
  • BUP-1 4

External Ids for UPB1 Gene

Previous GeneCards Identifiers for UPB1 Gene

  • GC22P021587
  • GC22P023187
  • GC22P023215
  • GC22P023221
  • GC22P024891
  • GC22P007840
  • GC22P024467

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 Pyrimidine Metabolic Disorder. Among its related pathways are beta-Alanine metabolism (KEGG) and Beta-alanine metabolism (TR). Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and beta-ureidopropionase activity. An important paralog of this gene is NIT1.

UniProtKB/Swiss-Prot for UPB1 Gene

  • Catalyzes a late step in pyrimidine degradation (PubMed:22525402, PubMed:24526388). Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide (PubMed:10542323, PubMed:11508704, PubMed:10415095, PubMed:29976570, PubMed:22525402, PubMed:24526388). Likewise, converts N-carbamoyl-beta-aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable).

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

GeneHancer (GH) Regulatory Elements for UPB1 Gene

Promoters and enhancers for UPB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J024493 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 613.5 +0.4 372 1.9 ZNF652 SP1 RXRA FOXA2 EZH2 MGA JUND USF1 ATF3 YY1 UPB1 ADORA2A-AS1
GH22J024492 Promoter 0.5 Ensembl 600.7 -1.4 -1406 0.2 UPB1 ADORA2A ADORA2A-AS1 GC22P024449 GC22P024451
GH22J024548 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.1 +59.4 59355 8.9 ZNF652 SP1 ZFX ELF3 MNT SIX5 NKRF POLR2A ZNF121 CEBPG GGT1 SNRPD3 GUCD1 ENSG00000272973 SGSM1 UPB1 ADORA2A SLC2A11 ENSG00000228923 SMARCB1
GH22J024423 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.9 -63.0 -62953 15.5 SP1 NKRF ZNF687 CTCF RELA KLF14 CREM MLLT1 RAD21 ZBED1 ADORA2A POM121L9P SPECC1L ZNF70 ENSG00000232545 UPB1 ADORA2A-AS1 SMARCB1 SNRPD3 ENSG00000272578
GH22J024459 Enhancer 1.2 Ensembl ENCODE dbSUPER 27.4 -30.4 -30406 9.4 ZNF121 SP1 ZNF548 PRDM1 EGR1 ZNF639 SMARCA4 RXRA DPF2 IKZF1 UPB1 ADORA2A-AS1 SPECC1L POM121L9P ADORA2A ENSG00000228923 ZNF70 SNRPD3 BCRP3 GC22P024451
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UPB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UPB1 gene promoter:
  • aMEF-2
  • Cart-1
  • HEN1
  • HOXA9
  • HOXA9B
  • ITF-2
  • MEF-2A
  • Nkx2-5
  • p53
  • Tal-1beta

Genomic Locations for UPB1 Gene

Genomic Locations for UPB1 Gene
chr22:24,494,107-24,528,390
(GRCh38/hg38)
Size:
34,284 bases
Orientation:
Plus strand
chr22:24,863,206-24,924,358
(GRCh37/hg19)
Size:
61,153 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
    Quaternary structure:
    • Homodimer, homotetramer, homooctamer; can also form higher homooligomers.

    Three dimensional structures from OCA and Proteopedia for UPB1 Gene

neXtProt entry for UPB1 Gene

Selected DME Specific Peptides for UPB1 Gene

Q9UBR1:
  • RKNHIPR
  • GDFNESTYYME
  • NICYGRHH
  • MPFAFCTREK

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

Suggested Antigen Peptide Sequences for UPB1 Gene

GenScript: Design optimal peptide antigens:
  • UPB1 protein (A4QPH4_HUMAN)
  • N-carbamoyl-beta-alanine amidohydrolase (BUP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBR1

UniProtKB/Swiss-Prot:

BUP1_HUMAN :
  • Belongs to the carbon-nitrogen hydrolase superfamily. BUP family.
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 Function:
Catalyzes a late step in pyrimidine degradation (PubMed:22525402, PubMed:24526388). Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide (PubMed:10542323, PubMed:11508704, PubMed:10415095, PubMed:29976570, PubMed:22525402, PubMed:24526388). Likewise, converts N-carbamoyl-beta-aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-(carbamoylamino)propanoate + 2 H(+) + H2O = beta-alanine + CO2 + NH4(+); Xref=Rhea:RHEA:11184, ChEBI:CHEBI:11892, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:28938, ChEBI:CHEBI:57966; EC=3.5.1.6; Evidence={ECO:0000269 PubMed:10415095, ECO:0000269 PubMed:10542323, ECO:0000269 PubMed:11508704, ECO:0000269 PubMed:22525402, ECO:0000269 PubMed:24526388, ECO:0000269 PubMed:29976570}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11185; Evidence={ECO:0000269 PubMed:10415095, ECO:0000269 PubMed:10542323, ECO:0000269 PubMed:11508704, ECO:0000269 PubMed:22525402, ECO:0000269 PubMed:24526388, ECO:0000269 PubMed:29976570};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-(carbamoylamino)-2-methylpropanoate + 2 H(+) + H2O = (R)-3-amino-2-methylpropanoate + CO2 + NH4(+); Xref=Rhea:RHEA:37339, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:28938, ChEBI:CHEBI:57731, ChEBI:CHEBI:74414; EC=3.5.1.6; Evidence={ECO:0000305 PubMed:22525402, ECO:0000305 PubMed:24526388}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37340; Evidence={ECO:0000305 PubMed:22525402, ECO:0000305 PubMed:24526388};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by 50 mM Zn(2+). Not inhibited by EDTA. Competitively inhibited by beta-alanine, 5-aminolevulinic acid (ALA), beta-aminoisobutyrate and 4-ureidobutyrate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=15.5 uM for N-carbamoyl-beta-alanine {ECO:0000269 PubMed:10415095}; KM=48 uM for N-carbamoyl-beta-alanine {ECO:0000269 PubMed:29976570}; Note=kcat is 0.47 sec(-1) with N-carbamoyl-beta-alanine as substrate. {ECO:0000269 PubMed:29976570}; pH dependence: Optimum pH is 6.5. {ECO:0000269 PubMed:29976570};

Enzyme Numbers (IUBMB) for UPB1 Gene

Phenotypes From GWAS Catalog for UPB1 Gene

Gene Ontology (GO) - Molecular Function for UPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003837 beta-ureidopropionase activity IDA 22525402
GO:0008270 NOT zinc ion binding IDA 29976570
GO:0016787 hydrolase activity IEA --
GO:0042803 protein homodimerization activity IDA 29976570
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

Animal Models for UPB1 Gene

MGI Knock Outs for UPB1:
  • Upb1 Upb1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for UPB1 - Now 50% OFF >
  • * UPB1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UPB1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for 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
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
cytosol 4
plasma membrane 2
peroxisome 0
nucleus 0
endoplasmic reticulum 0

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 HDA 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:0019482 beta-alanine metabolic process IBA 21873635
GO:0019483 beta-alanine biosynthetic process IEA --
GO:0033396 beta-alanine biosynthetic process via 3-ureidopropionate IDA 22525402
GO:0046135 pyrimidine nucleoside catabolic process TAS,IMP --
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, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Aminoisobutanoic acid
  • 2-(Aminomethyl)propionic acid
  • 2-Methyl-beta-alanine
  • 3-amino-2-Methylpropanoate
  • 3-Aminoisobutanoate
  • alpha-Methyl-beta-alanine
144-90-1
alpha-fluoro-beta-alanine
  • 3-amino-2-Fluoropropionic acid
  • 3-amino-2-Fluoropropionate
  • a-fluoro-b-Alanine
  • α-fluoro-β-alanine
  • 2-fluoro-beta-Alanine
alpha-Fluoro-beta-ureidopropionic acid
  • 2-fluoro-3-Ureidopropionic acid
  • 2-fluoro-3-Ureidopropionate
  • a-fluoro-b-Ureidopropionate
  • a-fluoro-b-Ureidopropionic acid
  • alpha-fluoro-beta-Ureidopropionate
Ureidoisobutyric acid
  • 3-((Aminocarbonyl)amino)-2-methylpropanoic acid
  • 3-Ureidoisobutyrate
  • beta-UBA
  • beta-Ureidoisobutyric acid
  • 3-((Aminocarbonyl)amino)-2-methylpropanoate
2905-86-4
Ureidopropionic acid
  • 3-[(Aminocarbonyl)amino]propanoic acid
  • 3-Ureidopropanoate
  • 3-Ureidopropanoic acid
  • 3-Ureidopropionate
  • 3-Ureidopropionic acid
462-88-4
genes like me logo Genes that share compounds with UPB1: view

Transcripts for UPB1 Gene

mRNA/cDNA for UPB1 Gene

Unigene Clusters for UPB1 Gene

Ureidopropionase, beta:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for UPB1 - Now 50% OFF >
  • * UPB1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UPB1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 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 and MOPED for UPB1 Gene



Protein tissue co-expression partners for UPB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UPB1 Gene:

UPB1

SOURCE GeneReport for Unigene cluster for UPB1 Gene:

Hs.731656

mRNA Expression by UniProt/SwissProt for UPB1 Gene:

Q9UBR1-BUP1_HUMAN
Tissue specificity: Detected in liver (at protein level).

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
Systems:
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with UPB1: view

Orthologs for UPB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UPB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UPB1 35 34
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UPB1 35 34
  • 87.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UPB1 35 34
  • 83.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Upb1 17 35 34
  • 83.25 (n)
rat
(Rattus norvegicus)
Mammalia Upb1 34
  • 82.9 (n)
oppossum
(Monodelphis domestica)
Mammalia UPB1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPB1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPB1 35 34
  • 73.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UPB1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia upb1 34
  • 71.37 (n)
zebrafish
(Danio rerio)
Actinopterygii upb1 35 34
  • 70.49 (n)
OneToOne
wufb69e03 34
fruit fly
(Drosophila melanogaster)
Insecta pyd3 35 36 34
  • 62.07 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010229 34
  • 61.28 (n)
worm
(Caenorhabditis elegans)
Secernentea F13H8.7 36
  • 62 (a)
upb-1 35 34
  • 60.4 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons BETA-UP 34
  • 58.09 (n)
soybean
(Glycine max)
eudicotyledons Gma.11275 34
rice
(Oryza sativa)
Liliopsida Os07g0485100 34
  • 58.93 (n)
Os.8024 34
barley
(Hordeum vulgare)
Liliopsida Hv.11047 34
wheat
(Triticum aestivum)
Liliopsida Ta.14887 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3091 35
  • 67 (a)
OneToOne
Cin.3055 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3055 34
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

ENSEMBL:
Gene Tree for UPB1 (if available)
TreeFam:
Gene Tree for UPB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UPB1: view image

Paralogs for UPB1 Gene

Paralogs for UPB1 Gene

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

  • BUP1_HUMAN
  • A4QPH4_HUMAN
  • E7EUZ5_HUMAN
  • F8WC94_HUMAN
genes like me logo Genes that share paralogs with UPB1: view

Variants for UPB1 Gene

Sequence variations from dbSNP and Humsavar for UPB1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs111674727 not-provided, uncertain-significance, not provided, Deficiency of beta-ureidopropionase 24,520,477(+) C/T intron_variant
rs113492967 benign, Deficiency of beta-ureidopropionase 24,526,080(+) AAAAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs113975342 not-provided, uncertain-significance, not provided, Deficiency of beta-ureidopropionase 24,523,678(+) C/A/G/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs116629687 uncertain-significance, Deficiency of beta-ureidopropionase 24,495,341(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs118163237 uncertain-significance, not specified, Deficiency of beta-ureidopropionase, not provided, Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] 24,523,679(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

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

Additional Variant Information for UPB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPB1
Human Gene Mutation Database (HGMD)
UPB1

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 (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, ECO:0000269 PubMed:22525402, ECO:0000269 PubMed:24526388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UPB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 58
  2. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PMID: 18075467) Thomas HR … Diasio RB (Pharmacogenetics and genomics 2007) 3 23 45 58
  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 23 58
  4. Expression and properties of human liver beta-ureidopropionase. (PMID: 11508704) Sakamoto T … Tamaki N (Journal of nutritional science and vitaminology 2001) 3 4 23 58
  5. Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism. (PMID: 29976570) Maurer D … Dobritzsch D (The Biochemical journal 2018) 3 4 58

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