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Aliases for OPLAH Gene

Aliases for OPLAH Gene

  • 5-Oxoprolinase (ATP-Hydrolysing) 2 3
  • 5-Oxo-L-Prolinase 3 4
  • Pyroglutamase 3 4
  • EC 3.5.2.9 4 64
  • 5-Opase 3 4
  • OPLAHD 3 6
  • 5-Oxoprolinase 3
  • OPLA 3

External Ids for OPLAH Gene

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 Metabolism and Glutathione metabolism. GO annotations related to this gene include 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

Genomic Location for OPLAH Gene

Start:
144,051,266 bp from pter
End:
144,063,832 bp from pter
Size:
12,567 bases
Orientation:
Minus strand

Genomic View for OPLAH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OPLAH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPLAH Gene

Regulatory Elements 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:
Reactome Protein details:
REFSEQ proteins:

Domains for OPLAH Gene

Protein Domains for OPLAH Gene

UniProtKB/Swiss-Prot:

OPLA_HUMAN
Family:
  • Belongs to the oxoprolinase family.:
    • O14841
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

Gene Ontology (GO) - Molecular Function for OPLAH Gene

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

Phenotypes for OPLAH Gene

GenomeRNAi human phenotypes for OPLAH:
genes like me logo Genes that share phenotypes with OPLAH: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for OPLAH Gene

Localization for OPLAH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPLAH Gene COMPARTMENTS Subcellular localization image for OPLAH gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

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

Pathways for OPLAH Gene

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

Pathways by source for OPLAH Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for OPLAH Gene
2 BioSystems pathways 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:0006750 glutathione biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:1901687 glutathione derivative biosynthetic process TAS --
genes like me logo Genes that share ontologies with OPLAH: view

Compounds for OPLAH Gene

(7) HMDB Compounds for OPLAH Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Famotidine
  • Amfamox
76824-35-6
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
Phosphate
  • NFB Orthophosphate
14265-44-2

(1) Drugbank Compounds for OPLAH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target

(11) Novoseek inferred chemical compound relationships for OPLAH Gene

Compound -log(P) Hits PubMed IDs
pyroglutamate 92.6 11
l-2-oxothiazolidine-4-carboxylate 90.7 8
gamma-glutamylcysteine 71.4 3
cysteine 57.9 6
buthionine sulfoximine 52.5 1
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 (4.9).

Integrated Proteomics: protein expression 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 expressions with OPLAH: view

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 36
  • 98.84 (n)
  • 98.47 (a)
OPLAH 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OPLAH 36
  • 88.92 (n)
  • 93.93 (a)
OPLAH 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OPLAH 36
  • 89.74 (n)
  • 94.5 (a)
OPLAH 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oplah 36
  • 84.42 (n)
  • 92.55 (a)
Oplah 16
Oplah 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPLAH 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OPLAH 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oplah 36
  • 84.42 (n)
  • 93.87 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 72 (a)
OneToMany
-- 37
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia oplah 36
  • 69.11 (n)
  • 72.31 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.11954 36
OPLAH 37
  • 69 (a)
OneToOne
si:dkey-9l5.2 36
  • 64.46 (n)
  • 70.41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001606 36
  • 65.21 (n)
  • 66.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4752 36
  • 60.22 (n)
  • 61.39 (a)
CG4752 37
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y38F2AR.12 36
  • 57.03 (n)
  • 58.96 (a)
Y38F2AR.12 37
  • 57 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR114C 36
  • 52.25 (n)
  • 52.04 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXP1 36
  • 50.05 (n)
  • 51.06 (a)
OXP1 37
  • 48 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18975g 36
  • 50.31 (n)
  • 50.61 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons OXP1 36
  • 55.61 (n)
  • 59.47 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6099 36
rice
(Oryza sativa)
Liliopsida Os.20353 36
wheat
(Triticum aestivum)
Liliopsida Ta.3112 36
bread mold
(Neurospora crassa)
Ascomycetes NCU04569 36
  • 58.59 (n)
  • 56.65 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC11D3.15 36
  • 50.85 (n)
  • 53.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs6558292 -- 144,059,740(+) CTGGC(A/G)ATATG reference, synonymous-codon
rs7003860 -- 144,060,021(+) CCCTC(C/G)GGGCT reference, synonymous-codon
rs7004867 -- 144,059,941(+) AGACC(C/T)GCACG missense, reference
rs7459752 -- 144,055,998(+) CCAGA(A/G)ATGCC intron-variant
rs10107332 -- 144,056,712(+) CGTGC(A/C)CTGGT reference, missense

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

Relevant External Links for OPLAH Gene

HapMap Linkage Disequilibrium report
OPLAH
Human Gene Mutation Database (HGMD)
OPLAH

Disorders for OPLAH Gene

(1) OMIM Diseases for OPLAH Gene (614243)

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.

(1) University of Copenhagen DISEASES for OPLAH Gene

(8) Novoseek inferred disease relationships for OPLAH Gene

Disease -log(P) Hits PubMed IDs
glutathione synthetase deficiency 96.6 4
metabolic acidosis 69.4 1
anemia hemolytic 67.5 1
developmental delay 39 2
mammary tumor 37.7 1
genes like me logo Genes that share disorders with OPLAH: view

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
  2. 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
  3. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. (PMID: 21651516) Almaghlouth I. … Alkuraya F. (Clin. Genet. 2012) 3 4
  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. (Biosci. Biotechnol. Biochem. 2001) 23 25
  5. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K. … Gieger C. (Nature 2011) 3

Products for OPLAH Gene

Sources for OPLAH Gene

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