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

OPLAH Gene

protein-coding   GIFtS: 60
GCID: GC08M145106

5-oxoprolinase (ATP-hydrolysing)
 Explore 8 diseases affiliated with
OPLAH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for OPLAH    

Aliases
for OPLAH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
5-Oxoprolinase (ATP-Hydrolysing)1 2     5-Oxoprolinase1
5-Opase1 2     OPLAHD2
OPLA1 2     Pyroglutamase3
5-Oxo-L-Prolinase1     5-OPase3
EC 3.5.2.93 8     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


Summaries
for OPLAH gene

(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:
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)

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




Genomic Views
for OPLAH 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  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 plasmid: OPLAH 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-,PATCHES 145,119,801-145,129,218     

Proteins
for OPLAH gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060040.1  Reactome Protein details: O14841
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for OPLAH

    Protein Domains /
    Families
    for OPLAH gene

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

    3 InterPro domains/families:
     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 families:
    IPB002821 Hydantoinase/oxoprolinase
    IPB003692 Hydantoinase B/oxoprolinase


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


    Function
    for OPLAH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OPLAH (see all 7)
    OriGene shRNA RFP: OPLAH
    OriGene siRNA: OPLAH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPLAH

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for OPLAH

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPLAH 

    Cell Line
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    Search LifeMap BioReagents cell lines for OPLAH

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:00171685-oxoprolinase (ATP-hydrolyzing) activity TAS--


    OPLAH for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for OPLAH gene

    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glutathione metabolism
    		Glutathione metabolism1.00
    		Glutathione conjugation0.50
    		Glutathione metabolism0.92
    		Glutathione metabolism0.44
    		Glutathione metabolism0.70
    2gamma-glutamyl cycle
    		gamma-glutamyl cycle1.00
    		Glutathione synthesis and recycling0.50
    3Biological oxidations
    		Biological oxidations1.00
    		Phase II conjugation0.52
    4Metabolism
    		Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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): 3 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--


    OPLAH for ontologies           About GeneDecksing



    Drugs & Compounds
    for OPLAH gene

    (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

    OPLAH for compounds           About GeneDecksing

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

    Browse Tocris compounds for OPLAH

    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 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 

    Transcripts
    for OPLAH gene

    (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, 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 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:             		 OriGene 3'-UTR Clone: OPLAH
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPLAH
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OPLAH (see all 7)
    OriGene shRNA RFP: OPLAH
    OriGene siRNA: OPLAH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPLAH
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPLAH

    Additional cDNA 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):

    NM_017570 AW236309 BU542808 BQ936306 AL040368 BU541354 BU543959 AL096750 
    AB122018 AW771526 AW059836 BC041576 BU621355 AI216507 BU543623 BG674825 
    CB241270 BM047508 BM043883 AI279522 BF338720 BM754842 BQ575794 BX106030 

    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

    Expression
    for OPLAH gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCAACACAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    OPLAH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    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
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPLAH
    In Situ
    Assay Products:     
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    Orthologs
    for OPLAH gene

    (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
    for OPLAH gene

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

    Genomic Variants
    for OPLAH gene

    (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

    10/164 NCBI SNPs in OPLAH are shown (see all 164)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs284757181,2
    		C,F,H,--140381998(+) GTAGCT/CGCGTC 2 -- ds5001 ut31 ese315Minor allele frequency- C:0.26NS NA WA CSA EU 1925
    rs617403391,2
    		--140382686(+) CAGCAG/ACGCCT 2 /L syn11Minor allele frequency- A:0.02NS 46
    rs609497811,2
    		C--140382757(+) CCGAG-/CCCCCCG 3 A G GL fra11Minor allele frequency- CC:0.00NA 2
    rs284289561,2
    		C,--140383306(+) ACTGGC/TGCCAG 2 A syn1 ese32Minor allele frequency- T:0.30WA 120
    rs1162101301,2
    		C,F,--140384472(+) GCCACG/ACCACT 1 -- int11Minor allele frequency- A:0.02WA 118
    rs737178031,2
    		C,--140384605(+) CCAGGC/GCCTCC 1 -- int13Minor allele frequency- G:0.42WA CSA 122
    rs285497061,2
    		C,F,--140384826(+) CACAGC/TGGGAG 1 -- int15Minor allele frequency- T:0.48WA NA CSA 125
    rs774360641,2
    		C,F,--140385126(+) GATCTG/ACAGCT 1 -- int11Minor allele frequency- A:0.09WA 118
    rs117771941,2
    		C,H,--140385569(+) GCCCCC/TGGCAC 2 R G mis14Minor allele frequency- T:0.00NS EA 418
    rs733791531,2
    		C,F,--140386134(+) AACCCA/GGTGCC 1 -- int14Minor allele frequency- G:0.37WA CSA 124

    HapMap Linkage Disequilibrium report for OPLAH (145106167 - 145118735 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for OPLAH
         5 CNVs: 30304 53614 30307 30305 30306
    Human Gene Mutation Database (HGMD): OPLAH

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPLAH
    DNA2.0 Custom Variant and Variant Library Synthesis for OPLAH

    Disorders / Diseases
    for OPLAH gene

    (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
    OPLAH for disorders           About GeneDecksing

    OMIM gene information: 614243    OMIM disorders: --

    UniProtKB/Swiss-Prot: OPLA_HUMAN, O14841
  • Defects in OPLAH are the cause of 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

    8 diseases for OPLAH:    About MalaCards
    glutathione synthetase deficiency    cystinosis    microcephaly    homocysteine
    pneumonia    tuberculosis    immunodeficiency    mycobacterium tuberculosis

    8 Novoseek 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

    Publications
    for OPLAH gene

    (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 37):
    (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. Human metabolic individuality in biomedical and pharma ceutical research. (PubMed id 21886157)1 Suhre K....Gieger C. (2011)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    9. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    External Searches for OPLAH gene

    (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)

    Genome Databases showing OPLAH gene

    (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

    Other Databases showing OPLAH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing OPLAH gene

    (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

    Intellectual Property
    for OPLAH gene

    (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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