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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 61
  • 5-Opase 3 4
  • 5-Oxoprolinase 3
  • 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 Cytochrome P450 - arranged by substrate type. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G143383 1.4 Ensembl ENCODE 4.7 +679.0 678972 4.3 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ENSG00000253931 MAFA-AS1 MINCR TOP1MT RHPN1 MROH6 MAFA OPLAH GC08M143377
GH08G143634 1.1 ENCODE 4.7 +427.9 427913 2.9 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 NAPRT MAF1 TOP1MT TMEM249 OPLAH SLC39A4 ZNF623 LOC105375799
GH08G144073 1.6 FANTOM5 Ensembl ENCODE 1.6 -10.4 -10371 1.2 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 KLF13 ZNF491 ZNF592 WDR97 ZNF251 SPATC1 CYC1 SHARPIN MAF1 PARP10 ZNF623 ZNF250 GRINA
GH08G144062 1.4 FANTOM5 ENCODE dbSUPER 0.7 +0.5 525 2.3 ELF3 CTCF TFAP4 ZNF792 SAP130 ARID4B MAX RAD21 YY1 HIC1 WDR97 ENSG00000255224 SPATC1 CYC1 SHARPIN MAF1 PARP10 PLEC OPLAH MIR6846
GH08G144059 1.3 ENCODE dbSUPER 0.7 +3.7 3674 2.3 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 KLF13 SP5 MXD4 ZNF592 WDR97 ENSG00000255224 MAF1 MIR6846 OPLAH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

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

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 TAS --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for OPLAH Gene

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 and Subcellular locations from COMPARTMENTS 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

Gene Ontology (GO) - Biological Process for OPLAH Gene

GO ID Qualified GO term Evidence PubMed IDs
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

(12) 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 61
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Pyroglutamic acid Experimental Pharma 0

(7) 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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of OPLAH Gene:

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
Organs:
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

Primer Products

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 34 35
  • 98.84 (n)
dog
(Canis familiaris)
Mammalia OPLAH 34 35
  • 89.74 (n)
cow
(Bos Taurus)
Mammalia OPLAH 34 35
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Oplah 34 16 35
  • 84.42 (n)
rat
(Rattus norvegicus)
Mammalia Oplah 34
  • 84.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OPLAH 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPLAH 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia oplah 34
  • 69.11 (n)
zebrafish
(Danio rerio)
Actinopterygii OPLAH 35
  • 69 (a)
OneToOne
si:dkey-9l5.2 34
  • 64.46 (n)
Dr.11954 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001606 34
  • 65.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4752 35 34
  • 60.22 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y38F2AR.12 34 35
  • 57.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR114C 34
  • 52.25 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18975g 34
  • 50.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXP1 34 35
  • 50.05 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons OXP1 34
  • 55.61 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6099 34
rice
(Oryza sativa)
Liliopsida Os.20353 34
wheat
(Triticum aestivum)
Liliopsida Ta.3112 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04569 34
  • 58.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC11D3.15 34
  • 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)

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
rs185836803 Pathogenic 144,052,487(+) GATGA(C/T)ATCCA nc-transcript-variant, reference, missense
rs398122906 Pathogenic 144,058,129(-) GTGAG(A/C)CGCTA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs539275646 Likely pathogenic 144,055,135(+) CCAGA(C/T)GCTCC nc-transcript-variant, reference, missense
rs1000846332 -- 144,060,753(+) AGGGC(C/T)CGCCC intron-variant, upstream-variant-2KB
rs1000898676 -- 144,060,530(+) CGGGG(C/T)GACCC intron-variant

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)

Relevant External Links for OPLAH Gene

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

Disorder Aliases PubMed IDs
5-oxoprolinase deficiency
  • 5-alpha-oxoprolinase deficiency
glutathione synthetase deficiency
  • 5-oxoprolinase deficiency
- 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 64
  2. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. (PMID: 21651516) Almaghlouth I. … Alkuraya F. (Clin. Genet. 2012) 3 4 64
  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 22 64
  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) 22 25 64
  5. Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies. (PMID: 25851806) Li X. … Yang Y. (Brain Dev. 2015) 3 64

Products for OPLAH Gene

Sources for OPLAH Gene

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