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    OPLAH 5-oxoprolinase, ATP-hydrolysing [ Homo sapiens (human) ]

    Gene ID: 26873, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OPLAHprovided by HGNC
    Official Full Name
    5-oxoprolinase, ATP-hydrolysingprovided by HGNC
    Primary source
    HGNC:HGNC:8149
    See related
    Ensembl:ENSG00000178814 MIM:614243; AllianceGenome:HGNC:8149
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OPLA; OPLAHD; 5-Opase
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 16.8), kidney (RPKM 6.8) and 20 other tissues See more
    Orthologs
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    Genomic context

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    See OPLAH in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144050322..144063961, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145211172..145224785, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145106167..145115595, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene poly(ADP-ribose) polymerase family member 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19651 Neighboring gene spermatogenesis and centriole associated 1 Neighboring gene NANOG hESC enhancer GRCh37_chr8:145092262-145092784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145103171-145104068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19652 Neighboring gene uncharacterized LOC124902039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145106761-145107658 Neighboring gene sphingomyelin phosphodiesterase 5 (pseudogene) Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:145115803-145116323 Neighboring gene microRNA 6846 Neighboring gene exosome component 4 Neighboring gene uncharacterized LOC124902038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19654 Neighboring gene microRNA 6847 Neighboring gene glycosylphosphatidylinositol anchor attachment 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. Almaghlouth IA, et al. Clin Genet, 2012 Aug. PMID 21651516
    2. 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes. Calpena E, et al. JIMD Rep, 2013. PMID 23430506, Free PMC Article
    3. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Sass JO, et al. Mol Genet Metab, 2016 Sep. PMID 27477828
    4. Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies. Li X, et al. Brain Dev, 2015 Nov. PMID 25851806
    5. Bovine 5-oxo-L-prolinase: simple assay method, purification, cDNA cloning, and detection of mRNA in the coronary artery. Watanabe T, et al. Biol Pharm Bull, 2004 Mar. PMID 14993790

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An autosomal recessive mode of inheritance for 5-oxoprolinase deficiency is further supported by the identification of a single mutation in all 9/14 parent sample sets investigated (except for the father of one patient whose result suggests homozygosity), and the absence of 5-oxoprolinuria in all tested heterozygotes
      Title: Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
    2. In this study, clinical, biochemical, and genetic aspects of five Chinese 5-oxoprolinuria patients with OPLAH or GSS gene mutations were investigated.
      Title: Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
    3. the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase
      Title: 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?
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    5-Oxoprolinase deficiency
    MedGen: C0268525 OMIM: 260005 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp434H244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5-oxoprolinase (ATP-hydrolyzing) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5-oxoprolinase (ATP-hydrolyzing) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables 5-oxoprolinase (ATP-hydrolyzing) activity TAS
    Traceable Author Statement
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glutathione metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    5-oxoprolinase
    Names
    5-oxo-L-prolinase
    pyroglutamase
    NP_060040.1
    XP_011515262.1
    XP_047277644.1
    XP_047277645.1
    XP_047277646.1
    XP_047277647.1
    XP_047277648.1
    XP_047277649.1
    XP_054216259.1
    XP_054216260.1
    XP_054216261.1
    XP_054216262.1
    XP_054216263.1
    XP_054216264.1
    XP_054216265.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032671.1 RefSeqGene

      Range
      4990..14416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017570.5 → NP_060040.1  5-oxoprolinase

      See identical proteins and their annotated locations for NP_060040.1

      Status: REVIEWED

      Source sequence(s)
      AC109322, BC142672
      Consensus CDS
      CCDS75802.1
      UniProtKB/Swiss-Prot
      A5PKY8, O14841, Q75W65, Q9Y4Q0
      UniProtKB/TrEMBL
      A7E261
      Related
      ENSP00000480476.1, ENST00000618853.5
      Conserved Domains (4) summary
      PLN02666
      Location:1 → 1258
      PLN02666; 5-oxoprolinase
      pfam01968
      Location:231 → 513
      Hydantoinase_A; Hydantoinase/oxoprolinase
      pfam02538
      Location:734 → 1256
      Hydantoinase_B; Hydantoinase B/oxoprolinase
      pfam05378
      Location:9 → 212
      Hydant_A_N; Hydantoinase/oxoprolinase N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144050322..144063961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421689.1 → XP_047277645.1  5-oxoprolinase isoform X2

    2. XM_047421688.1 → XP_047277644.1  5-oxoprolinase isoform X1

    3. XM_047421691.1 → XP_047277647.1  5-oxoprolinase isoform X4

    4. XM_047421690.1 → XP_047277646.1  5-oxoprolinase isoform X4

    5. XM_011516960.2 → XP_011515262.1  5-oxoprolinase isoform X3

      UniProtKB/TrEMBL
      A7E261
      Conserved Domains (5) summary
      PLN02666
      Location:96 → 1354
      PLN02666; 5-oxoprolinase
      pfam01968
      Location:327 → 609
      Hydantoinase_A; Hydantoinase/oxoprolinase
      pfam02538
      Location:830 → 1352
      Hydantoinase_B; Hydantoinase B/oxoprolinase
      pfam05378
      Location:105 → 308
      Hydant_A_N; Hydantoinase/oxoprolinase N-terminal region
      cl19252
      Location:4 → 41
      MreC; rod shape-determining protein MreC

    6. XM_047421692.1 → XP_047277648.1  5-oxoprolinase isoform X5

      UniProtKB/Swiss-Prot
      A5PKY8, O14841, Q75W65, Q9Y4Q0

    7. XM_047421693.1 → XP_047277649.1  5-oxoprolinase isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145211172..145224785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360285.1 → XP_054216260.1  5-oxoprolinase isoform X2

    2. XM_054360284.1 → XP_054216259.1  5-oxoprolinase isoform X1

    3. XM_054360288.1 → XP_054216263.1  5-oxoprolinase isoform X4

    4. XM_054360287.1 → XP_054216262.1  5-oxoprolinase isoform X4

    5. XM_054360286.1 → XP_054216261.1  5-oxoprolinase isoform X3

    6. XM_054360289.1 → XP_054216264.1  5-oxoprolinase isoform X5

    7. XM_054360290.1 → XP_054216265.1  5-oxoprolinase isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14841.3 GenPept UniProtKB/Swiss-Prot:O14841

    Gene LinkOut

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