Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OPLAH Gene

Aliases for OPLAH Gene

  • 5-Oxoprolinase (ATP-Hydrolysing) 2 3 5
  • 5-Oxo-L-Prolinase 3 4
  • Pyroglutamase 3 4
  • EC 3.5.2.9 4 63
  • 5-Opase 3 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 Phase II conjugation and Glutathione metabolism. GO annotations related to this gene include hydrolase activity and 5-oxoprolinase (ATP-hydrolyzing) activity.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPLAH Gene

Genomics for OPLAH Gene

Regulatory Elements for OPLAH Gene

Enhancers for OPLAH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OPLAH on UCSC Golden Path with GeneCards custom track

Genomic Location for OPLAH Gene

Chromosome:
8
Start:
144,051,266 bp from pter
End:
144,064,026 bp from pter
Size:
12,761 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; Positions=1046, 1068, 1080; Evidence={ECO:0000305}; Sequence=CAB46426.2; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for OPLAH Gene

Proteomics data for OPLAH Gene at MOPED

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

Protein Domains for OPLAH Gene

Suggested Antigen Peptide Sequences for OPLAH Gene

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

No data available for Gene Families for OPLAH Gene

Function for OPLAH Gene

Molecular function for OPLAH Gene

GENATLAS Biochemistry:
5-oxoprolinase (ATP-hydrolysing)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 5-oxo-L-proline + 2 H(2)O = ADP + phosphate + L-glutamate.
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.

Enzyme Numbers (IUBMB) for OPLAH Gene

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:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for OPLAH Gene

Localization for OPLAH Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components 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

1 KEGG pathway for OPLAH Gene
1 GeneGo (Thomson Reuters) pathway for OPLAH Gene

Interacting Proteins for OPLAH Gene

Selected Interacting proteins: O14841-OPLA_HUMAN for OPLAH Gene via I2D

Gene Ontology (GO) - Biological Process for OPLAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1901687 glutathione derivative 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Adenosine triphosphate Approved Nutra 0
Pyroglutamic acid Experimental Pharma 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with OPLAH: view

Transcripts for OPLAH Gene

Unigene Clusters for OPLAH Gene

5-oxoprolinase (ATP-hydrolysing):
Representative Sequences:

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
ECgene alternative splicing isoforms for
OPLAH

Expression for OPLAH Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for OPLAH Gene



SOURCE GeneReport for Unigene cluster for OPLAH Gene Hs.305882

genes like me logo Genes that share expression patterns with OPLAH: view

Protein tissue co-expression partners for OPLAH Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia OPLAH 35
  • 88.92 (n)
  • 93.93 (a)
OPLAH 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OPLAH 35
  • 89.74 (n)
  • 94.5 (a)
OPLAH 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oplah 35
  • 84.42 (n)
  • 92.55 (a)
Oplah 16
Oplah 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OPLAH 35
  • 98.84 (n)
  • 98.47 (a)
OPLAH 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oplah 35
  • 84.42 (n)
  • 93.87 (a)
oppossum
(Monodelphis domestica)
Mammalia OPLAH 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OPLAH 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 72 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia oplah 35
  • 69.11 (n)
  • 72.31 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.11954 35
si:dkey-9l5.2 35
  • 64.46 (n)
  • 70.41 (a)
OPLAH 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001606 35
  • 65.21 (n)
  • 66.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4752 35
  • 60.22 (n)
  • 61.39 (a)
CG4752 36
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y38F2AR.12 35
  • 57.03 (n)
  • 58.96 (a)
Y38F2AR.12 36
  • 57 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR114C 35
  • 52.25 (n)
  • 52.04 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18975g 35
  • 50.31 (n)
  • 50.61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXP1 35
  • 50.05 (n)
  • 51.06 (a)
OXP1 36
  • 48 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons OXP1 35
  • 55.61 (n)
  • 59.47 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6099 35
rice
(Oryza sativa)
Liliopsida Os.20353 35
wheat
(Triticum aestivum)
Liliopsida Ta.3112 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04569 35
  • 58.59 (n)
  • 56.65 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC11D3.15 35
  • 50.85 (n)
  • 53.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToOne
Species with no ortholog for OPLAH:
  • 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)

Paralogs for OPLAH Gene

No data available for Paralogs for OPLAH Gene

Variants for OPLAH Gene

Sequence variations from dbSNP and Humsavar for OPLAH Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_050425 -
rs10107332 -- 144,056,712(+) CGTGC(A/C)CTGGT reference, missense
rs11136253 -- 144,052,892(+) AACAC(A/G)GCGCT downstream-variant-500B, reference, synonymous-codon
rs11777194 -- 144,054,850(+) GCCCC(C/T)GGCAC reference, missense
rs11985564 -- 144,059,828(+) GCCGT(C/G)GGGTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7935n71 CNV Loss 21882294
dgv7940n71 CNV Loss 21882294
nsv891766 CNV Loss 21882294
dgv906n27 CNV Loss 19166990
nsv470249 CNV Loss 18288195
dgv7948n71 CNV Loss 21882294
dgv7949n71 CNV Loss 21882294
dgv7950n71 CNV Loss 21882294
nsv891787 CNV Gain+Loss 21882294
nsv515809 CNV Gain+Loss 19592680
nsv470250 CNV Gain 18288195
dgv7954n71 CNV Loss 21882294
nsv466014 CNV Loss 19166990
dgv7955n71 CNV Loss 21882294
nsv891807 CNV Loss 21882294
nsv428208 CNV Gain 18775914
nsv891809 CNV Loss 21882294
nsv824801 CNV Gain 20364138
esv989694 CNV Gain 20482838

Variation tolerance for OPLAH Gene

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

Relevant External Links for OPLAH Gene

Human Gene Mutation Database (HGMD)
OPLAH

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

Disorders for OPLAH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
5-oxoprolinase deficiency
  • 5-oxoprolinase
glutathione synthetase deficiency
  • glutathione synthetase
- 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.

Relevant External Links for OPLAH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Biol. Pharm. Bull. 2004) 2 3 4 67
  2. 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. (Biosci. Biotechnol. Biochem. 2001) 23 25 26
  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 A.K. (J. Biosci. 2010) 3 23
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for OPLAH Gene

Sources for OPLAH Gene

Content