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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]
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 Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include hydrolase activity and 5-oxoprolinase (ATP-hydrolyzing) activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0017168 | 5-oxoprolinase (ATP-hydrolyzing) activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glutathione metabolism |
Glutathione metabolism
.60
|
|
2 | Metabolism |
.40
|
|
3 | Cytochrome P450 - arranged by substrate type |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006749 | glutathione metabolic process | IBA | 21873635 |
GO:0006750 | glutathione biosynthetic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 82 | ||
Phosphoric acid | Approved | Pharma | 0 | |||
Pidolic acid | Approved, Investigational | Pharma | 0 | |||
Water | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | OPLAH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OPLAH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | OPLAH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Oplah 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Oplah 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | OPLAH 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | OPLAH 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | oplah 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | OPLAH 31 |
|
OneToOne | |
si:dkey-9l5.2 30 |
|
||||
Dr.11954 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001606 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4752 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y38F2AR.12 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR114C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C18975g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | OXP1 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | OXP1 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.6099 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.20353 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.3112 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04569 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC11D3.15 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
643594 | Uncertain Significance: 5-Oxoprolinase deficiency | 144,057,530(-) | G/A | MISSENSE_VARIANT | |
650875 | Uncertain Significance: 5-Oxoprolinase deficiency | 144,054,578(-) | C/G | MISSENSE_VARIANT | |
652843 | Uncertain Significance: 5-Oxoprolinase deficiency | 144,056,396(-) | G/A | MISSENSE_VARIANT | |
657572 | Uncertain Significance: 5-Oxoprolinase deficiency | 144,059,013(-) | G/A | MISSENSE_VARIANT | |
661332 | Uncertain Significance: 5-Oxoprolinase deficiency | 144,052,020(-) | C/T | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
5-oxoprolinase deficiency |
|
|
glutathione synthetase deficiency |
|
|
neu-laxova syndrome 2 |
|
|
metabolic acidosis |
|
|
hawkinsinuria |
|
|