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] See more...

Aliases for OPLAH Gene

Aliases for OPLAH Gene

  • 5-Oxoprolinase, ATP-Hydrolysing 2 3 5
  • 5-Oxo-L-Prolinase 3 4
  • 5-Oxoprolinase 3 4
  • Pyroglutamase 3 4
  • EC 3.5.2.9 4 52
  • 5-Opase 3
  • 5-OPase 4
  • OPLAHD 3
  • OPLA 3

External Ids for OPLAH Gene

Previous GeneCards Identifiers for OPLAH Gene

  • GC08U990099
  • GC08P145325
  • GC08M144881
  • GC08M145212
  • GC08M145178
  • GC08M145106
  • GC08M140381

Summaries for OPLAH Gene

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. Among its related pathways are Glutathione metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and 5-oxoprolinase (ATP-hydrolyzing) activity.

UniProtKB/Swiss-Prot Summary for OPLAH Gene

  • Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate.

Additional gene information for OPLAH Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OPLAH Gene

Genomics for OPLAH Gene

GeneHancer (GH) Regulatory Elements for OPLAH Gene

Promoters and enhancers for OPLAH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OPLAH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OPLAH

Top Transcription factor binding sites by QIAGEN in the OPLAH gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-3
  • PPAR-gamma1
  • SRF
  • SRF (504 AA)

Genomic Locations for OPLAH Gene

Genomic Locations for OPLAH Gene
chr8:144,051,266-144,064,026
(GRCh38/hg38)
Size:
12,761 bases
Orientation:
Minus strand
chr8:145,106,167-145,118,735
(GRCh37/hg19)
Size:
12,569 bases
Orientation:
Minus strand

Genomic View for OPLAH Gene

Genes around OPLAH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPLAH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPLAH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPLAH Gene

Proteins for OPLAH Gene

  • Protein details for OPLAH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14841-OPLA_HUMAN
    Recommended name:
    5-oxoprolinase
    Protein Accession:
    O14841
    Secondary Accessions:
    • A5PKY8
    • Q75W65
    • Q9Y4Q0

    Protein attributes for OPLAH Gene

    Size:
    1288 amino acids
    Molecular mass:
    137457 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB81519.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAB46426.2; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for OPLAH Gene

Selected DME Specific Peptides for OPLAH Gene

O14841:
  • LSGPAGGVVGYS
  • SHMTNTRITD
  • TVAAGGGSRLFF
  • FSHRFMSIAEQMG
  • IPLNQGCLAP
  • IQRYVQGF
  • IGFDMGGTSTDVSRY
  • VASRGHHADIGGITPGSMPP
  • LFDLAVPMPE
  • IDRGGTFTD
  • RVANEAMCRPIR
  • RLEEQCV
  • LQQEGAVFLSFKLV
  • PHIPVHLGAMQETVQFQIQ
  • SIRMGTTV
  • GSGGRGRFRGGDG
  • NAELAVRDML
  • SQGCMNN
  • HVLACFGGAGGQH
  • ISTNIKERLDFSCALF
  • RSQISTESFLHLRYQGTDCALMVSA
  • AGGSHLPDLTV
  • AVVGGNVLTSQR
  • EGIRRILE

Post-translational modifications for OPLAH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OPLAH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for OPLAH Gene

Gene Families for OPLAH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for OPLAH Gene

Blocks:
  • Hydantoinase/oxoprolinase
  • Hydantoinase B/oxoprolinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OPLAH Gene

GenScript: Design optimal peptide antigens:
  • 5-oxoprolinase (ATP-hydrolysing) (A7E261_HUMAN)
  • Pyroglutamase (OPLA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14841

UniProtKB/Swiss-Prot:

OPLA_HUMAN :
  • Belongs to the oxoprolinase family.
Family:
  • Belongs to the oxoprolinase family.
genes like me logo Genes that share domains with OPLAH: view

Function for OPLAH Gene

Molecular function for OPLAH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-oxo-L-proline + ATP + 2 H2O = ADP + H(+) + L-glutamate + phosphate; Xref=Rhea:RHEA:10348, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58402, ChEBI:CHEBI:456216; EC=3.5.2.9;.
GENATLAS Biochemistry:
5-oxoprolinase (ATP-hydrolysing)

Enzyme Numbers (IUBMB) for OPLAH Gene

Phenotypes From GWAS Catalog for OPLAH Gene

Gene Ontology (GO) - Molecular Function for OPLAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0017168 5-oxoprolinase (ATP-hydrolyzing) activity IBA 21873635
genes like me logo Genes that share ontologies with OPLAH: view
genes like me logo Genes that share phenotypes with OPLAH: view

Human Phenotype Ontology for OPLAH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OPLAH Gene

MGI Knock Outs for OPLAH:
  • Oplah Oplah<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPLAH

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for OPLAH Gene

Localization for OPLAH Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPLAH gene
Compartment Confidence
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OPLAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with OPLAH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for OPLAH Gene

Pathways & Interactions for OPLAH Gene

genes like me logo Genes that share pathways with OPLAH: view

Pathways by source for OPLAH Gene

2 KEGG pathways for OPLAH Gene
1 GeneGo (Thomson Reuters) pathway for OPLAH Gene
  • Glutathione metabolism

Gene Ontology (GO) - Biological Process for OPLAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006749 glutathione metabolic process IBA 21873635
GO:0006750 glutathione biosynthetic process TAS --
genes like me logo Genes that share ontologies with OPLAH: view

No data available for SIGNOR curated interactions for OPLAH Gene

Drugs & Compounds for OPLAH Gene

(11) Drugs for OPLAH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
Famotidine Approved Pharma Histamine H2-receptor antagonist 73
Phosphoric acid Approved Pharma 0
Pidolic acid Approved, Investigational Pharma 0
Water Approved Pharma 0

(7) Additional Compounds for OPLAH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with OPLAH: view

Transcripts for OPLAH Gene

mRNA/cDNA for OPLAH Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPLAH

Alternative Splicing Database (ASD) splice patterns (SP) for OPLAH Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:

ExUns: 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for OPLAH Gene

GeneLoc Exon Structure for
OPLAH

Expression for OPLAH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OPLAH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OPLAH Gene

This gene is overexpressed in Testis (x4.9).

Protein differential expression in normal tissues from HIPED for OPLAH Gene

This gene is overexpressed in Liver (9.3) and Salivary gland (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OPLAH Gene



Protein tissue co-expression partners for OPLAH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OPLAH

SOURCE GeneReport for Unigene cluster for OPLAH Gene:

Hs.305882

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPLAH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ureter
genes like me logo Genes that share expression patterns with OPLAH: view

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for OPLAH Gene

Orthologs for OPLAH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OPLAH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPLAH 31 30
  • 98.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OPLAH 31 30
  • 89.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OPLAH 31 30
  • 88.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Oplah 17 31 30
  • 84.42 (n)
rat
(Rattus norvegicus)
Mammalia Oplah 30
  • 84.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OPLAH 31
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPLAH 31
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 75 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia oplah 30
  • 69.11 (n)
zebrafish
(Danio rerio)
Actinopterygii OPLAH 31
  • 69 (a)
OneToOne
si:dkey-9l5.2 30
  • 64.46 (n)
Dr.11954 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001606 30
  • 65.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4752 31 30
  • 60.22 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y38F2AR.12 31 30
  • 57.03 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR114C 30
  • 52.25 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18975g 30
  • 50.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXP1 31 30
  • 50.05 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons OXP1 30
  • 55.61 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.3112 30
barley
(Hordeum vulgare)
Liliopsida Hv.6099 30
rice
(Oryza sativa)
Liliopsida Os.20353 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04569 30
  • 58.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC11D3.15 30
  • 50.85 (n)
Species where no ortholog for OPLAH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for OPLAH Gene

ENSEMBL:
Gene Tree for OPLAH (if available)
TreeFam:
Gene Tree for OPLAH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OPLAH: view image

Paralogs for OPLAH Gene

No data available for Paralogs for OPLAH Gene

Variants for OPLAH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OPLAH Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
570470 Uncertain Significance: 5-Oxoprolinase deficiency 144,057,319(-) G/A MISSENSE_VARIANT
572337 Pathogenic: 5-Oxoprolinase deficiency 144,054,690(-) G/A NONSENSE
578462 Uncertain Significance: 5-Oxoprolinase deficiency 144,054,850(-) C/T MISSENSE_VARIANT
587493 Uncertain Significance: 5-Oxoprolinase deficiency 144,055,806(-) G/A MISSENSE_VARIANT
643594 Uncertain Significance: 5-Oxoprolinase deficiency 144,057,530(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for OPLAH Gene

Structural Variations from Database of Genomic Variants (DGV) for OPLAH Gene

Variant ID Type Subtype PubMed ID
dgv12431n54 CNV loss 21841781
dgv12433n54 CNV gain 21841781
dgv906n27 CNV loss 19166990
esv989694 CNV gain 20482838
nsv1025071 CNV gain 25217958
nsv1161815 CNV deletion 26073780
nsv428208 CNV gain 18775914
nsv466014 CNV loss 19166990
nsv470249 CNV loss 18288195
nsv470250 CNV gain 18288195
nsv515809 CNV gain+loss 19592680
nsv612906 CNV loss 21841781
nsv612907 CNV gain+loss 21841781
nsv612914 CNV loss 21841781
nsv612915 CNV loss 21841781
nsv612916 CNV loss 21841781
nsv612917 CNV loss 21841781
nsv824801 CNV gain 20364138
nsv950015 CNV deletion 24416366

Variation tolerance for OPLAH Gene

Gene Damage Index Score: 8.91; 87.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OPLAH Gene

Human Gene Mutation Database (HGMD)
OPLAH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPLAH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPLAH Gene

Disorders for OPLAH Gene

MalaCards: The human disease database

(6) MalaCards diseases for OPLAH Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
5-oxoprolinase deficiency
  • oplahd
glutathione synthetase deficiency
  • 5-oxoprolinase deficiency
metabolic acidosis
cystinosis
  • cystine storage disease
hemolytic anemia
  • anemia hemolytic
- elite association - COSMIC cancer census association via MalaCards
Search OPLAH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OPLA_HUMAN
  • 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. {ECO:0000269 PubMed:21651516}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OPLAH

genes like me logo Genes that share disorders with OPLAH: view

No data available for Genatlas for OPLAH Gene

Publications for OPLAH Gene

  1. Bovine 5-oxo-L-prolinase: simple assay method, purification, cDNA cloning, and detection of mRNA in the coronary artery. (PMID: 14993790) Watanabe T … Iijima Y (Biological & pharmaceutical bulletin 2004) 2 3 4 54
  2. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. (PMID: 21651516) Almaghlouth IA … Alkuraya FS (Clinical genetics 2012) 3 4 54
  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? (PMID: 20413906) Kumar A … Bachhawat AK (Journal of biosciences 2010) 3 23 54
  4. A simultaneous assay method for L-glutamate and L-pyroglutamate contents in soy sauce using a 5-oxoprolinase (without ATP hydrolyzing activity). (PMID: 11302195) Nishimura A … Oda K (Bioscience, biotechnology, and biochemistry 2001) 23 26 54
  5. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. (PMID: 29229926) Lu H … Bohr VA (Nature communications 2017) 3 54

Products for OPLAH Gene

Sources for OPLAH Gene