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OPLAH Gene

protein-coding   GIFtS: 61
GCID: GC08M145106

5-Oxoprolinase (ATP-Hydrolysing)

  See OPLAH-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
5-Oxoprolinase (ATP-Hydrolysing)1 2     5-oxoprolinase2
5-oxo-L-prolinase2 3     OPLA2
EC 3.5.2.93 8     pyroglutamase2
OPLAHD2 5     5-OPase3
5-Opase2     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include 5-oxoprolinase (ATP-hydrolyzing) activity.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   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 Chromatin IP Primers for OPLAH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OPLAH (O14841) (see all 24)
     SQGCMNN  RLEEQCV  IQRYVQGF  SIRMGTTV 


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

    REFSEQ proteins: NP_060040.1  
    ENSEMBL proteins: 
     ENSP00000475943  
    Reactome Protein details: O14841

    OPLAH Human Recombinant Protein Products:

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

     
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    Search antibodies-online for proteins for OPLAH 

     
    antibodies-online peptides for OPLAH

    OPLAH Antibody Products:

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    antibodies-online antibodies for OPLAH (4 products) 

    OPLAH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for OPLAH
    Cloud-Clone Corp. CLIAs for OPLAH
    Search eBioscience for ELISAs for OPLAH 
    antibodies-online kits for OPLAH (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with OPLAH           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: 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:    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--
         
    Find genes that share ontologies with OPLAH           About GenesLikeMe


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

         1 MGI phenotypic allele for Oplah (no phenotypes)

    Find genes that share phenotypes with OPLAH           About GenesLikeMe

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

    miRNA
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    GenScript: all cDNA clones in your preferred vector: OPLAH (NM_017570)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPLAH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPLAH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPLAH


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with OPLAH           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 OPLAH About    
    See pathways by source

    SuperPathContained pathways About
    1Glutathione metabolism
    Glutathione metabolism0.65
    Glutathione metabolism0.45
    Glutathione metabolism0.65
    Glutathione synthesis and recycling0.00
    Glutathione conjugation0.60
    2Biological oxidations
    Biological oxidations0.56
    Phase II conjugation0.56
    3Metabolism
    Metabolism0.38
    4gamma-glutamyl cycle
    gamma-glutamyl cycle


    Find genes that share SuperPaths with OPLAH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for OPLAH
        Glutathione metabolism

    2 BioSystems Pathways for OPLAH
        Glutathione metabolism
    gamma-glutamyl cycle

    1 Reactome Pathway for OPLAH
        Glutathione synthesis and recycling


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

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

        Search GeneGlobe Interaction Network for OPLAH

    Selected 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:    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--

    Find genes that share ontologies with OPLAH           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 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

    Selected 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)



    Find genes that share compounds with OPLAH           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 OPLAH gene: 
    NM_017570.4  

    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
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    GenScript: all cDNA clones in your preferred vector: OPLAH (NM_017570)
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      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 

    Selected AceView cDNA sequences (see all 59):

    AW236309 NM_017570 AL096750 BQ936306 AW771526 AW059836 AB122018 BU543959 
    BU541354 BU542808 AL040368 BU621355 BF338720 AI279522 CB241270 BX106030 
    BC041576 BC036944 BM759444 BM708512 BU543623 BM043883 BG674825 AI216507 

    GeneLoc Exon Structure

    Selected 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™, 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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    OPLAH expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Prostate (Endocrine System)
    OPLAH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OPLAH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.305882
        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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OPLAH gene from Selected species (see all 23)    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 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    75(a)
    72(a)
    1 ↔ many
    1 ↔ many
    GL344665.1(1509-25099)
    GL343789.1(1257-25243)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia oplah1 5-oxoprolinase (ATP-hydrolysing) 69.11(n)
    72.31(a)
      780345  NM_001079415.1  NP_001072883.1 
    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 60.22(n)
    61.39(a)
      37569  NM_137831.2  NP_611675.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y38F2AR.121 Y38F2AR.12 57.03(n)
    58.96(a)
      189679  NM_001083256.1  NP_001076725.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OXP11 OXP1 50.05(n)
    51.06(a)
      853665   NP_012707.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons OXP11 OXP1 55.61(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

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    (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)
    About This Section

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    Selected SNPs for OPLAH (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614243   
    OMIM disorders: 260005  
    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

  • 3 diseases for OPLAH:    
    About MalaCards
    5-oxoprolinase deficiency    glutathione synthetase deficiency    metabolic acidosis

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

    Find genes that share disorders with OPLAH           About GenesLikeMe

    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)
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    PubMed articles for OPLAH gene, integrated from 10 sources (see all 39):
    (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. (Biol. Pharm. Bull. 2004)
    2. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. (PubMed id 21651516)1, 2 Almaghlouth I....Alkuraya F. (Clin. Genet. 2012)
    3. A futile cycle, formed between two ATP-dependant gamma-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. (J. Biosci. 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. (Biosci. Biotechnol. Biochem. 2001)
    5. 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes. (PubMed id 23430506)1 Calpena E....EspinA^s C. (JIMD Rep 2013)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    8. Human metabolic individuality in biomedical and pharmaceutical research. (PubMed id 21886157)1 Suhre K....Gieger C. (Nature 2011)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)

    (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: 26873 HGNC: 8149 AceView: OPLAH Ensembl:ENSG00000178814 euGenes: HUgn26873
    ECgene: OPLAH Kegg: 26873 H-InvDB: OPLAH

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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