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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UPB1 Gene

protein-coding   GIFtS: 61
GCID: GC22P024891

ureidopropionase, beta

 Explore 8 diseases affiliated with
UPB1 via our new
 Human Malady Compendium 
Biological research products
for UPB1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ureidopropionase, Beta1 2     BUP-12 3
BUP11 2 3 5     EC 3.5.1.63 8
Beta-Alanine Synthase2 3     Beta-Ureidopropionase1
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UPB1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UPB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Cytoplasm
Secondary accessions: A3KMF8 Q9UIR3

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBR1

  • 4 DME Specific Peptides for UPB1 (Q9UBR1)
     RKNHIPR  NICYGRHH  MPFAFCTREK  GDFNESTYYME 

    UPB1 Protein expression data from MOPED and PaxDb:    About this image 
    UPB1 Protein Expression
    REFSEQ proteins: NP_057411.1  
    ENSEMBL proteins: 
     ENSP00000400684   ENSP00000324343   ENSP00000372208   ENSP00000406057  
    Reactome Protein details: Q9UBR1
    Human Recombinant Protein Products for UPB1: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    UPB1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    UPB1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003010 C-N_Hydrolase

    Graphical View of Domain Structure for InterPro Entry Q9UBR1

    ProtoNet protein and cluster: Q9UBR1

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

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    UPB1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for UPB1 

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    In Situ Assay
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Beta-alanine metabolism
    Beta-alanine metabolism1.00
    thymine degradation0.25
    Beta-alanine metabolism0.90
    uracil degradation II (reductive)0.25
    2Pyrimidine metabolism
    Pyrimidine metabolism1.00
    Pyrimidine catabolism0.50
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Fluoropyrimidine Activity
    Fluoropyrimidine Activity1.00
    Fluoropyrimidine Pathway, Pharmacokinetics0.73
    5beta-Alanine metabolism
    beta-Alanine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for UPB1
        Beta-alanine metabolism


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

    3 BioSystems Pathways for UPB1 
        Fluoropyrimidine Activity
    uracil degradation II (reductive)
    thymine degradation

    4        Reactome Pathways for UPB1
        Metabolism of nucleotides
    Metabolism
    Pyrimidine catabolism
    Pyrimidine metabolism

    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


    UPB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UPB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/17 Interacting proteins for UPB1 (Q9UBR13 ENSP000003243434) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCB1Q128243I2D: score=5 
    ABATENSP000002682514STRING: ENSP00000268251
    ALDH7A1ENSP000003871234STRING: ENSP00000387123
    DPYSENSP000002766514STRING: ENSP00000276651
    ALDH1A3ENSP000003322564STRING: ENSP00000332256
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (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--

    UPB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UPB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for UPB1

    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 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)

    Search CenterWatch for drugs/clinical trials and news about UPB1 / BUP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UPB1 gene: 
    NM_016327.2  

    Unigene Cluster for UPB1:

    Ureidopropionase, beta
    Hs.731656  [show with all ESTs]
    Unigene Representative Sequence: CR627429
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415388(uc003aaf.3) ENST00000326010 ENST00000382760 ENST00000498140(uc021wnh.1)
    ENST00000486043 ENST00000413389(uc003aae.3)

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    Additional cDNA sequence: 

    AB013885.1 AF163312.1 AK024277.1 AK314727.1 BC033388.1 BC131703.1 BC139840.1 BC139843.1 
    BX537493.1 CR456375.1 CR627429.1 

    8 DOTS entries:

    DT.75100808  DT.40126701  DT.97836899  DT.100752498  DT.95216645  DT.95263143  DT.40246735  DT.91703194 

    24/75 AceView cDNA sequences (see all 75):

    BF476557 F02979 AB013885 AW237260 BX281661 AW001678 BC033388 AW271340 
    NM_016327 AF163312 H55374 AV681862 H55419 AV647795 AV718545 CR456375 
    AV720239 AV654966 CB163933 AV650334 AV654404 AV699567 H11714 AI470928 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UPB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTAGCCAGC
    UPB1 Expression
    About this image
    See UPB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UPB1

    SOURCE GeneReport for Unigene cluster: Hs.731656
        SABiosciences Custom PCR Arrays for UPB1

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UPB1 gene from 8/31 species (see all 31)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves UPB11 ureidopropionase, beta 73.54(n)
    79.63(a)
      416949  XM_415242.3  XP_415242.1 
    lizard
    (Anolis carolinensis)
    Reptilia UPB16
    --
    76(a)
    1 ↔ 1
    GL343947.1(70323-75297)
    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
    CG3027-PA1
    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
    Protein UPB-11
    62(a)3
    60.4(n)1
    62.14(a)1
      II(6288461-6290041)3
    1740401  NM_062860.21  NP_495261.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BETA-UP1 beta-ureidopropionase 58.18(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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/678 NCBI SNPs in UPB1 are shown (see all 678    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219080661,2
    Cpathogenic7845847(+) ACCCCG/CCATTG 2 /P /R mis11Minor allele frequency- C:0.00NA 4552
    rs340350851,2
    C,Fpathogenic7845892(+) CCCCGC/AAAATG 2 /E /A mis12Minor allele frequency- A:0.01NA 4624
    rs780007711,2
    --7839420(+) TGAGAC/TTGCGT 1 -- us2k10--------
    rs72890161,2
    C--7839939(+) CTCTGG/TATTCG 1 -- us2k10--------
    rs72891591,2
    C,F,H--7840016(+) GGAAAG/TTGCCC 1 -- us2k13Minor allele frequency- T:0.28NS EA 646
    rs22328571,2
    C,F--7840612(+) AGGGGG/TACAGC 1 -- us2k1 trp32Minor allele frequency- T:0.14NS WA 180
    rs22328591,2
    C,F--7840648(+) GCGACG/AACTCC 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs22328611,2
    C,F--7840821(+) GGCACG/ATGCCG 1 -- us2k1 tfbs34Minor allele frequency- A:0.11NA WA CSA 124
    rs622318861,2
    --7840833(+) AGGAGA/CGCTAA 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs622318871,2
    --7840843(+) AAGGCC/GAGGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UPB1 (24863206 - 24924358 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for UPB1
         1 CNV: 31081
    Human Gene Mutation Database (HGMD): UPB1

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    (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.)
    About This Section

    UPB1 for disorders           About GeneDecksing

    OMIM gene information: 606673   
    OMIM disorders: 613161  
    UniProtKB/Swiss-Prot: BUP1_HUMAN, Q9UBR1
  • Defects in UPB1 are the cause of beta-ureidopropionase deficiency (BUPD) [MIM:613161]. 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

    8 diseases for UPB1:    About MalaCards
    beta-ureidopropionase deficiency    ornithine carbamoyltransferase deficiency    propionic acidemia    partial optic atrophy
    optic atrophy    scoliosis    microcephaly    hypotonia

    2 Novoseek 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)

    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)
    About This Section

    PubMed articles for UPB1 gene, integrated from 9 sources (see all 33):
    (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. (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. (2004)
    3. Expression and properties of human liver beta-ureidopropionase. (PubMed id 11508704)1, 2, 9 Sakamoto T.... Tamaki N. (2001)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. (PubMed id 18216719)1, 9 Thomas H.R....Diasio R.B. (2008)
    6. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. (PubMed id 17065070)1, 9 van Kuilenburg A.B....van Gennip A.H. (2006)
    7. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PubMed id 18075467)1, 9 Thomas H.R....Diasio R.B. (2007)
    8. 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. (2001)
    9. s-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. (PubMed id 22525402)1 van Kuilenburg A.B....Hennekam R.C. (2012)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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      (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)
    About This Section
    Entrez Gene: 51733 HGNC: 16297 AceView: UPB1 Ensembl:ENSG00000100024 euGenes: HUgn51733
    ECgene: UPB1 Kegg: 51733 H-InvDB: UPB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UPB1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UPB1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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