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UPB1 Gene

protein-coding   GIFtS: 59
GCID: GC22P024891

Ureidopropionase, Beta

  See UPB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ureidopropionase, Beta1 2     BUP-12 3
BUP12 3 5     EC 3.5.1.63 8
Beta-Alanine Synthase2 3     beta-ureidopropionase2
N-Carbamoyl-Beta-Alanine Amidohydrolase2 3     

External Ids:    HGNC: 162971   Entrez Gene: 517332   Ensembl: ENSG000001000247   OMIM: 6066735   UniProtKB: Q9UBR13   

Export aliases for UPB1 gene to outside databases

Previous GC identifers: GC22P021587 GC22P023187 GC22P023215 GC22P023221 GC22P007840


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ornithine carbamoyltransferase deficiency.

UniProtKB/Swiss-Prot: BUP1_HUMAN, Q9UBR1
Function: Converts N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to, respectively,
beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide

Gene Wiki entry for UPB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the UPB1 gene promoter:
         HOXA9B   HOXA9   p53   Nkx2-5   Tal-1beta   HEN1   MEF-2A   Cart-1   aMEF-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPB1 promoter sequence
   Search Chromatin IP Primers for UPB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UPB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.2   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.2

UPB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPB1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P024891:  view genomic region     (about GC identifiers)

Start:
24,863,206 bp from pter      End:
24,924,358 bp from pter
Size:
61,153 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BUP1_HUMAN, Q9UBR1 (See protein sequence)
Recommended Name: Beta-ureidopropionase  
Size: 384 amino acids; 43166 Da
Cofactor: Binds 1 zinc ion per subunit (Probable)
Secondary accessions: A3KMF8 Q9UIR3

Explore the universe of human proteins at neXtProt for UPB1: NX_Q9UBR1

Explore proteomics data for UPB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for UPB1 (Q9UBR1)
     RKNHIPR  NICYGRHH  MPFAFCTREK  GDFNESTYYME 


    See UPB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057411.1  
    ENSEMBL proteins: 
     ENSP00000400684   ENSP00000324343   ENSP00000372208   ENSP00000406057  
    Reactome Protein details: Q9UBR1

    UPB1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for UPB1 

     
    antibodies-online proteins for UPB1 (10 products) 

     
    antibodies-online peptides for UPB1

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    antibodies-online antibodies for UPB1 (12 products) 

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    antibodies-online kits for UPB1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003010 C-N_Hydrolase

    Graphical View of Domain Structure for InterPro Entry Q9UBR1

    ProtoNet protein and cluster: Q9UBR1

    1 Blocks protein domain: IPB003010 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase

    UniProtKB/Swiss-Prot: BUP1_HUMAN, Q9UBR1
    Similarity: Belongs to the carbon-nitrogen hydrolase superfamily. BUP family
    Similarity: Contains 1 CN hydrolase domain


    Find genes that share domains with UPB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BUP1_HUMAN, Q9UBR1
    Function: Converts N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to, respectively,
    beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide
    Catalytic activity: N-carbamoyl-beta-alanine + H(2)O = beta-alanine + CO(2) + NH(3)
    Enzyme regulation: Allosteric enzyme with positive cooperativity toward the substrate N-carbamoyl-beta-alanine (By
    similarity)

         Enzyme Number (IUBMB): EC 3.5.1.61 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003837beta-ureidopropionase activity EXP--
    GO:0016810hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with UPB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for UPB1:
     Increased S DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for UPB1

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    hsa-miR-661 hsa-miR-216a
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BUP1_HUMAN, Q9UBR1: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with UPB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UPB1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Pyrimidine metabolism0.33
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    Pyrimidine catabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3superpathway of pyrimidine ribonucleosides degradation
    superpathway of pyrimidine ribonucleosides degradation0.60
    uracil degradation I (reductive)0.00
    thymine degradation0.60
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    5Purine metabolism (KEGG)
    Pyrimidine metabolism0.38


    Find genes that share SuperPaths with UPB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for UPB1
        Beta-alanine metabolism

    4 BioSystems Pathways for UPB1
        Fluoropyrimidine Activity
    uracil degradation I (reductive)
    thymine degradation
    superpathway of pyrimidine ribonucleosides degradation


    1 Reactome Pathway for UPB1
        Pyrimidine catabolism

    1 PharmGKB Pathway for UPB1
        Fluoropyrimidine Pathway, Pharmacokinetics

    5 Kegg Pathways  (Kegg details for UPB1):
        Pyrimidine metabolism
    beta-Alanine metabolism
    Pantothenate and CoA biosynthesis
    Drug metabolism - other enzymes
    Metabolic pathways

    UniProtKB/Swiss-Prot: BUP1_HUMAN, Q9UBR1
    Pathway: Amino-acid biosynthesis; beta-alanine biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UPB1
    Interactions:

        Search GeneGlobe Interaction Network for UPB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for UPB1 (Q9UBR13 ENSP000003243434) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCB1Q128243I2D: score=5 
    ABATENSP000002682514STRING: ENSP00000268251
    ALDH1A3ENSP000003322564STRING: ENSP00000332256
    ALDH1B1ENSP000003669274STRING: ENSP00000366927
    ALDH2ENSP000002617334STRING: ENSP00000261733
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006807nitrogen compound metabolic process ----
    GO:0019483beta-alanine biosynthetic process IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0046135pyrimidine nucleoside catabolic process TAS--

    Find genes that share ontologies with UPB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UPB1 (BUP1)

    7 HMDB Compounds for UPB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ureidopropionic acid3-Ureido-propionate (see all 20)462-88-411675655
    3-Aminoisobutanoic acid(+/-)-3-Amino-2-methylpropanoic acid (see all 17)144-90-1--
    AmmoniaNH3 (see all 31)7664-41-7--
    Beta-Alanine2-Carboxyethylamine (see all 21)107-95-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Ureidoisobutyric acid3-Ureidoisobutyrate (see all 12)2905-86-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    6 Novoseek inferred chemical compound relationships for UPB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-carbamoyl-beta-alanine 91.9 1 2121062 (1)
    beta-aminoisobutyric acid 90.6 2 15385443 (1), 17065070 (1)
    beta-alanine 87.7 9 15638804 (3), 2121062 (1), 7987228 (1), 17909293 (1) (see all 6)
    pyrimidine 79.3 6 15385443 (2), 11804209 (1), 12450676 (1), 17065070 (1) (see all 5)
    propionate 43 1 9266360 (1)
    purine 33.1 1 12450676 (1)



    Find genes that share compounds with UPB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UPB1 gene: 
    NM_016327.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415388(uc003aaf.3) ENST00000326010 ENST00000382760 ENST00000498140(uc021wnh.1)
    ENST00000486043 ENST00000413389(uc003aae.3)
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate UPB1:
    hsa-miR-661 hsa-miR-216a
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      QuantiTect SYBR Green Assays in human, mouse, rat UPB1
      QuantiFast Probe-based Assays in human, mouse, rat UPB1

    Selected AceView cDNA sequences (see all 75):

    AV654966 AV718545 AV720239 BX281661 AB013885 BF476557 AF163312 NM_016327 
    CR456375 AW237260 H55419 F02979 AV654404 BC033388 CB163933 AW001678 
    AV650334 AV647795 H55374 AW271340 AV681862 W55897 AW241904 AI470949 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UPB1    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for UPB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UPB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTAGCCAGC
    UPB1 Expression
    About this image


    UPB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Common Dendritic Cell Precursors Hematopoietic Bone Marrow
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Brain (Nervous System)
             Striatum
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)
    UPB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UPB1 Protein Expression
        Custom PCR Arrays for UPB1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UPB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UPB1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Upb11 , 5 ureidopropionase, beta1, 5 83.25(n)1
    85.68(a)1
      10 (38.53 cM)5
    1031491  NM_133995.31  NP_598756.11 
     754069115 
    chicken
    (Gallus gallus)
    Aves UPB11 ureidopropionase, beta 73.54(n)
    79.63(a)
      416949  XM_415242.4  XP_415242.1 
    lizard
    (Anolis carolinensis)
    Reptilia UPB16
    ureidopropionase, beta
    75(a)
    1 ↔ 1
    GL343947.1(68401-78772)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF589848.12   -- 72.32(n)    CF589848.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb69e032 wufb69e03 82.26(n)   322660  BC053204.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pyd31 , 3 beta-ureidopropionase3
    pyd31
    63(a)3
    62.07(n)1
    64.06(a)1
      84D143
    409161  NM_141475.21  NP_649732.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F13H8.73
    upb-11
    beta-ureidopropionase (rat)3
    upb-11
    62(a)3
    60.4(n)1
    62.14(a)1
      II(6288461-6290041)3
    1740401  NM_062860.31  NP_495261.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BETA-UP1 BETA-UP 58.09(n)
    60.74(a)
      836558  NM_125833.4  NP_201242.2 
    rice
    (Oryza sativa)
    Liliopsida Os.80242 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.27(n)    AK060443.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for UPB1 gene
    1 SIMAP similar gene for UPB1 using alignment to 4 protein entries:     BUP1_HUMAN (see all proteins):
    DKFZp779O1248

    Find genes that share paralogs with UPB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UPB1 (see all 731)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs340350851,2,,4
    C,FBeta-ureidopropionase deficiency (BUPD)4 pathogenic18819059(+) CCCCGC/AAAATG 2 /E /A mis12Minor allele frequency- A:0.01NA 4624
    rs1219080661,2
    Cpathogenic18819014(+) ACCCCG/CCATTG 2 /P /R mis11Minor allele frequency- C:0.00NA 4552
    rs2012069941,2
    --7857228(+) ATATA-/TTTTATAT 1 -- cds10--------
    rs352702981,2
    C,F--8815651(+) TAGCGG/TGTGAG 1 -- int15Minor allele frequency- T:0.02NA 188
    rs37883691,2
    C,F,A,H--8815808(+) GACATA/GTGTGG 1 -- int17Minor allele frequency- G:0.09NS EA CSA WA 657
    rs1435211221,2
    --8815824(+) TGTCCC/TTCTTT 1 -- int10--------
    rs10150111,2
    C,F,O,A,H--8815856(-) GATAGG/CGGGGA 1 -- int1 trp313Minor allele frequency- C:0.39EA NA NS WA CSA 984
    rs37883701,2
    C--8815860(+) CCCTAT/GCTCCC 1 -- int13Minor allele frequency- G:0.16CSA WA EA 239
    rs1509513051,2
    --8815879(+) TTCAAC/TGGGAG 1 -- int10--------
    rs1410614681,2
    --8816030(+) TACACA/GTAGGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for UPB1 (24863206 - 24924358 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for UPB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724068CNV Deletion23290073
    esv2724041CNV Deletion23290073
    nsv914629CNV Gain21882294
    nsv526567CNV Gain19592680
    nsv834160CNV Gain17160897
    nsv914599CNV Gain21882294
    nsv9884CNV Gain+Loss18304495
    nsv7350OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): UPB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UPB1
    DNA2.0 Custom Variant and Variant Library Synthesis for UPB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606673   
    OMIM disorders: 613161  
    UniProtKB/Swiss-Prot: BUP1_HUMAN, Q9UBR1
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 3 diseases for UPB1:    
    About MalaCards
    beta-ureidopropionase deficiency    ornithine carbamoyltransferase deficiency    propionic acidemia

    2 diseases from the University of Copenhagen DISEASES database for UPB1:
    Ornithine carbamoyltransferase deficiency     Propionic acidemia

    Find genes that share disorders with UPB1           About GenesLikeMe

    2 Novoseek inferred disease relationships for UPB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enzyme deficiency 57.8 1 17065070 (1)
    hyperammonemia 54.8 1 17467347 (1)

    Genetic Association Database (GAD): UPB1
    Human Genome Epidemiology (HuGE) Navigator: UPB1 (5 documents)

    Export disorders for UPB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UPB1 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with UPB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. (PubMed id 10542323)1, 2, 3, 9 Vreken P....van Gennip A.H. (Biochim. Biophys. Acta 1999)
    2. Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (PubMed id 15385443)1, 2, 9 van Kuilenburg A.B.P.... van Gennip A.H. (Hum. Mol. Genet. 2004)
    3. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PubMed id 18075467)1, 4, 9 Thomas H.R....Diasio R.B. (Pharmacogenet. Genomics 2007)
    4. Expression and properties of human liver beta-ureidopropionase. (PubMed id 11508704)1, 2, 9 Sakamoto T.... Tamaki N. (J. Nutr. Sci. Vitaminol. 2001)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. (PubMed id 18216719)1, 9 Thomas H.R....Diasio R.B. (Pharmacogenet. Genomics 2008)
    8. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. (PubMed id 17065070)1, 9 van Kuilenburg A.B....van Gennip A.H. (amp 2006)
    9. beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. (PubMed id 11675655)6, 9 Moolenaar S.H....Wevers R.A. (Magn Reson Med 2001)
    10. Contribution of the I^-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity. (PubMed id 23238479)1 Fidlerova J....Kleibl Z. (Pharmacol Rep 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51733 HGNC: 16297 AceView: UPB1 Ensembl:ENSG00000100024 euGenes: HUgn51733
    ECgene: UPB1 Kegg: 51733 H-InvDB: UPB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UPB1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/238925/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UPB1 gene:
    Search GeneIP for patents involving UPB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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