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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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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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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