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

OPLAH Gene

protein-coding   GIFtS: 61
GCID: GC08M145106

5-Oxoprolinase (ATP-Hydrolysing)

  See 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)
About This Section

Aliases
5-Oxoprolinase (ATP-Hydrolysing)1 2     OPLA2
5-oxo-L-prolinase2 3     OPLAHD2
EC 3.5.2.93 8     pyroglutamase2
5-Opase2     5-OPase3
5-oxoprolinase2     Pyroglutamase3

External Ids:    HGNC: 81491   Entrez Gene: 268732   Ensembl: ENSG000001788147   OMIM: 6142435   UniProtKB: O148413   

Export aliases for OPLAH gene to outside databases

Previous GC identifers: GC08U990099 GC08P145325 GC08M144881 GC08M145212 GC08M145178 GC08M140381


(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 OPLAH Gene:
The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of
5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). (provided
by RefSeq, Jun 2012)

GeneCards Summary for OPLAH Gene: 
OPLAH (5-oxoprolinase (ATP-hydrolysing)) is a protein-coding gene. Diseases associated with OPLAH include 5-oxoprolinase deficiency, and glutathione synthetase deficiency, and among its related super-pathways are Glutathione metabolism and gamma-glutamyl cycle. GO annotations related to this gene include 5-oxoprolinase (ATP-hydrolyzing) activity and ATP binding.

UniProtKB/Swiss-Prot: OPLA_HUMAN, O14841
Function: Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP
and inorganic phosphate




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OPLAH gene promoter:
         Egr-3   SRF   E2F-4   E2F-3a   E2F-5   SRF (504 AA)   E2F-2   PPAR-gamma1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPLAH promoter sequence
   Search SABiosciences Chromatin IP Primers for OPLAH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPLAH


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M145106:  view genomic region     (about GC identifiers)

Start:
145,106,167 bp from pter      End:
145,118,735 bp from pter
Size:
12,569 bases      Orientation:
minus strand

1 alternative location:
Chr8-,NW_003315923 389,911-399,328     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OPLA_HUMAN, O14841 (See protein sequence)
Recommended Name: 5-oxoprolinase  
Size: 1288 amino acids; 137457 Da
Subunit: Homodimer (By similarity)
Sequence caution: Sequence=AAB81519.1; Type=Frameshift; Positions=1046, 1068, 1080; Sequence=CAB46426.2;
Type=Frameshift; Positions=Several;
Secondary accessions: A5PKY8 Q75W65 Q9Y4Q0

Explore the universe of human proteins at neXtProt for OPLAH: NX_O14841

Explore proteomics data for OPLAH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14841

  • 4/24 DME Specific Peptides for OPLAH (O14841) (see all 24)
     SQGCMNN  RLEEQCV  IQRYVQGF  SIRMGTTV 

    OPLAH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OPLAH Protein Expression
    REFSEQ proteins: NP_060040.1  
    ENSEMBL proteins: 
     ENSP00000475943  
    Reactome Protein details: O14841
    Human Recombinant Protein Products for OPLAH: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OPLAH 

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

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

    OPLAH for ontologies           About GeneDecksing



    OPLAH Antibody Products: 
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    Assay Products for OPLAH: 
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    Cloud-Clone Corp. ELISAs for OPLAH 
    Cloud-Clone Corp. CLIAs for OPLAH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR008040 Hydant_A_N
     IPR002821 Hydantoinase_A
     IPR003692 Hydantoinase_B

    Graphical View of Domain Structure for InterPro Entry O14841

    ProtoNet protein and cluster: O14841

    2 Blocks protein domains:
    IPB002821 Hydantoinase/oxoprolinase
    IPB003692 Hydantoinase B/oxoprolinase


    UniProtKB/Swiss-Prot: OPLA_HUMAN, O14841
    Similarity: Belongs to the oxoprolinase family


    OPLAH for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OPLA_HUMAN, O14841
    Function: Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP
    and inorganic phosphate
    Catalytic activity: ATP + 5-oxo-L-proline + 2 H(2)O = ADP + phosphate + L-glutamate

         Genatlas biochemistry entry for OPLAH:
    5-oxoprolinase (ATP-hydrolysing)

         Enzyme Number (IUBMB): EC 3.5.2.91 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0016787hydrolase activity ----
    GO:00171685-oxoprolinase (ATP-hydrolyzing) activity TAS--
         
    OPLAH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OPLAH:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for OPLAH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OPLAH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OPLAH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OPLAH 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPLAH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate OPLAH
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    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPLAH


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OPLAH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glutathione metabolism
    Glutathione metabolism0.92
    Glutathione conjugation0.60
    Glutathione metabolism0.67
    Glutathione metabolism0.45
    2Glutathione synthesis and recycling
    gamma-glutamyl cycle0.38
    Glutathione synthesis and recycling0.38
    3Biological oxidations
    Biological oxidations0.55
    Phase II conjugation0.55
    4Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for OPLAH
        Glutathione metabolism


    1 GeneGo (Thomson Reuters) Pathway for OPLAH
        Glutathione metabolism

    2 BioSystems Pathways for OPLAH
        Glutathione metabolism
    gamma-glutamyl cycle

    5        Reactome Pathways for OPLAH
        Glutathione synthesis and recycling
    Metabolism
    Biological oxidations
    Glutathione conjugation
    Phase II conjugation


    1         Kegg Pathway  (Kegg details for OPLAH):
        Glutathione metabolism


    OPLAH for pathways           About GeneDecksing

    Interactions:

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

    5/11 Interacting proteins for OPLAH (O148413) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EBF1Q9UH733I2D: score=2 
    EBF3Q9H4W63I2D: score=2 
    ACO2Q997983I2D: score=1 
    CCT2P783713I2D: score=1 
    DNAJA1P316893I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006750glutathione biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:1901687glutathione derivative biosynthetic process TAS--

    OPLAH for ontologies           About GeneDecksing



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

    OPLAH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OPLAH (OPLA)

    7 HMDB Compounds for OPLAH    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Pyroglutamic acid(-)-2-Pyrrolidone-5-carboxylate (see all 65)98-79-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for OPLAH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--11302195 17139284 6145710 17016423 4514988

    10/11 Novoseek inferred chemical compound relationships for OPLAH gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyroglutamate 92.6 14 10078874 (2), 9474033 (1), 9516961 (1), 10094443 (1) (see all 10)
    l-2-oxothiazolidine-4-carboxylate 90.7 9 9751079 (5), 8194136 (1), 9516961 (1), 8786549 (1)
    gamma-glutamylcysteine 71.4 4 20413906 (2), 15981742 (1)
    cysteine 57.9 7 9233839 (2), 8194136 (1), 9516961 (1), 20413906 (1) (see all 5)
    buthionine sulfoximine 52.5 1 9751079 (1)
    glutamate 43.7 11 11302195 (2), 10078874 (2), 9751079 (2), 20413906 (1) (see all 6)
    melphalan 43.2 8 9751079 (5), 9516961 (1)
    n acetylcysteine 42.4 2 16950796 (1)
    homocysteine 27.1 2 8194136 (1)
    atp 21.2 7 11302195 (2), 20413906 (1), 10078874 (1), 10460889 (1)

    Search CenterWatch for drugs/clinical trials and news about OPLAH / OPLA

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OPLAH gene: 
    NM_017570.3  

    Unigene Cluster for OPLAH:

    5-oxoprolinase (ATP-hydrolysing)
    Hs.305882  [show with all ESTs]
    Unigene Representative Sequence: BC150206
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534424(uc003zar.3) ENST00000527993 ENST00000531027 ENST00000567871
    ENST00000426825(uc003zas.1 uc003zat.1)
    miRNA
    Products:
         
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPLAH
    Clone
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    OriGene clones in human, mouse for OPLAH (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OPLAH (NM_017570)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPLAH
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPLAH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPLAH

    Additional mRNA sequence: 

    AB122018.1 AL096750.1 BC036944.1 BC041576.1 BC142672.1 BC150206.1 

    5 DOTS entries:

    DT.100023359  DT.95093987  DT.100751187  DT.95242152  DT.100669540 

    24/59 AceView cDNA sequences (see all 59):

    AW236309 AL040368 AW771526 AW059836 BU543959 BU541354 BU542808 BQ936306 
    AB122018 AL096750 NM_017570 BC041576 BG674825 CB241270 BM754842 BX106030 
    BC036944 BU543623 AI216507 BM759444 BM708512 BM043883 BM047508 BQ575794 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for OPLAH (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for OPLAH

    (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

    OPLAH expression in normal human tissues (normalized intensities)      OPLAH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCAACACAC
    OPLAH Expression
    About this image


    OPLAH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Prostate (Endocrine System)

    See OPLAH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OPLAH

    SOURCE GeneReport for Unigene cluster: Hs.305882
        SABiosciences Custom PCR Arrays for OPLAH
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPLAH

    (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 OPLAH gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oplah1 , 5 5-oxoprolinase (ATP-hydrolysing)1, 5 84.42(n)1
    92.55(a)1
      15 (35.67 cM)5
    754751  NM_153122.21  NP_694762.11 
     762965975 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.119542 Transcribed sequence with weak similarity to protein more 72.45(n)    BG729615.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG47521 CG4752 60.27(n)
    61.47(a)
      37569  NM_137831.2  NP_611675.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y38F2AR.121 Protein Y38F2AR.12 56.97(n)
    58.87(a)
      189679  NM_001083256.1  NP_001076725.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OXP11 Oxp1p 50.14(n)
    51.06(a)
      853665   NP_012707.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons OXP11 5-oxoprolinase 55.58(n)
    59.47(a)
      833761  NM_123142.4  NP_198599.1 
    rice
    (Oryza sativa)
    Liliopsida Os.203532 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.23(n)    AK120106.1 


    ENSEMBL Gene Tree for OPLAH (if available)
    TreeFam Gene Tree for OPLAH (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, 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) 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

    10/361 SNPs in OPLAH are shown (see all 361)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs767761871,2
    C--140382580(+) ACCAGA/GGGCGG 1 -- int10--------
    rs617403391,2
    C,F--145380113(+) CAGCAG/ACGCCT 2 /L syn11Minor allele frequency- A:0.02NS 46
    rs1482918101,2
    C--145380231(+) CGAGGG/ACGAGG 1 -- int11Minor allele frequency- A:0.01EU 141
    rs1858368031,2
    C--145380633(+) GATGAC/TATCCA 2 I V mis10--------
    rs284289561,2
    C--145380733(+) ACTGGC/TGCCAG 2 A syn1 ese32Minor allele frequency- T:0.30WA 120
    rs1917779831,2
    C--145380948(+) CAGCGA/CAGGCA 2 L syn10--------
    rs111362531,2
    C,F,H--145381038(+) AACACA/GGCGCT 2 A syn113Minor allele frequency- G:0.11NA NS WA CSA EA 659
    rs1836955561,2
    --145381106(+) GCCTAA/GAGGCA 1 -- int10--------
    rs2006200191,2
    C--145381158(+) GAGGCA/GGATGG 2 R C mis10--------
    rs1861921161,2
    C--145381183(+) ATGTGA/GTCTTC 2 D syn10--------

    HapMap Linkage Disequilibrium report for OPLAH (145106167 - 145118735 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for OPLAH (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv891809CNV Loss21882294
    dgv7949n71CNV Loss21882294
    dgv7950n71CNV Loss21882294
    dgv906n27CNV Loss19166990
    dgv7955n71CNV Loss21882294
    nsv891807CNV Loss21882294
    dgv7954n71CNV Loss21882294
    dgv7940n71CNV Loss21882294
    nsv891766CNV Loss21882294
    dgv7948n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): OPLAH
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing OPLAH
    DNA2.0 Custom Variant and Variant Library Synthesis for OPLAH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614243    OMIM disorders: --

    UniProtKB/Swiss-Prot: OPLA_HUMAN, O14841
  • 5-oxoprolinase deficiency (OPLAHD) [MIM:260005]: A disorder characterized by calcium oxalate/carbonate
    urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting,
    diarrhea, and abdominal pain. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 7 diseases for OPLAH:    About MalaCards
    5-oxoprolinase deficiency    glutathione synthetase deficiency    cystinosis    microcephaly
    diarrhea    tuberculosis    anemia

    1 disease from the University of Copenhagen DISEASES database for OPLAH:
    Metabolic acidosis

    OPLAH for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for OPLAH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutathione synthetase deficiency 96.6 4 10094443 (1), 15074378 (1), 10450861 (1), 9679548 (1)
    metabolic acidosis 69.4 1 9474033 (1)
    anemia hemolytic 67.5 1 9679548 (1)
    developmental delay 39 2 8803782 (1), 7542714 (1)
    mammary tumor 37.7 1 9751079 (1)
    encephalopathy 28.7 1 9453376 (1)
    tumors 0 12 9516961 (6), 9751079 (2), 9233839 (1), 8786549 (1)
    cancer 0 1 16950796 (1)


    Export disorders for OPLAH 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 OPLAH gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with OPLAH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bovine 5-oxo-L-prolinase: simple assay method, purification, cDNA cloning, and detection of mRNA in the coronary artery. (PubMed id 14993790)1, 2, 3 Watanabe T.... Iijima Y. (2004)
    2. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. (PubMed id 21651516)1, 2 Almaghlouth I....Alkuraya F. (2011)
    3. A futile cycle, formed between two ATP-dependant gamm a-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase : the cause of cellular ATP depletion in nephrotic cystinosis? (PubMed id 20413906)1, 9 Kumar A. and Bachhawat A.K. (2010)
    4. A simultaneous assay method for L-glutamate and L-pyroglutamate contents in soy sauce using a 5-oxoprolinase (without ATP hydrolyzing activity). (PubMed id 11302195)7, 9 Nishimura A....Oda K. (2001)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    7. Human metabolic individuality in biomedical and pharma ceutical research. (PubMed id 21886157)1 Suhre K....Gieger C. (2011)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    10. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 26873 HGNC: 8149 AceView: OPLAH Ensembl:ENSG00000178814 euGenes: HUgn26873
    ECgene: OPLAH Kegg: 26873 H-InvDB: OPLAH

    (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 OPLAH Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

     
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