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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 56
  • 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 Metabolism. Gene Ontology (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.

Additional gene information for OPLAH Gene

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

GeneHancer (GH) Regulatory Elements for OPLAH Gene

Promoters and enhancers for OPLAH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I144059 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.7 3674 2.3 SMAD1 ARID4B SIN3A DMAP1 YY1 ZNF766 SP5 MXD4 REST ZNF592 OPLAH WDR97 ENSG00000255224 ZNF7 ZNF251 ZNF623 ZNF16 GPAA1 ZNF250 LRRC14
GH08I144062 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 550.8 +0.5 524 2.3 ELF3 CTCF TFAP4 ZNF792 SAP130 ARID4B MAX RAD21 YY1 HIC1 OPLAH EXOSC4 WDR97 ENSG00000255224 SPATC1 CYC1 SHARPIN MAF1 PARP10 PLEC
GH08I143634 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.7 +427.9 427913 2.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B E2F8 ZNF623 LOC105375798 NAPRT CPSF1 ZNF707 VPS28 ADCK5 SLC52A2 EEF1D PARP10
GH08I143383 Enhancer 1.2 Ensembl ENCODE 4.7 +679.0 678971 4.3 HDGF PKNOX1 CLOCK ATF1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF48 ENSG00000253931 MAFA-AS1 MINCR TOP1MT RHPN1 MROH6 MAFA OPLAH GC08M143377
GH08I144073 Enhancer 1.5 FANTOM5 Ensembl ENCODE 1.6 -10.4 -10371 1.2 HDGF PKNOX1 ATF1 SMAD1 ARNT TCF12 POLR2B ZNF766 ATF7 ZNF491 WDR97 ZNF251 ENSG00000254533 TSSK5P SPATC1 ENSG00000255085 CYC1 SHARPIN MAF1 ZNF252P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OPLAH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OPLAH gene promoter:

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)

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

No Post-translational modifications

Other Protein References for OPLAH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for OPLAH Gene

Gene Families for OPLAH Gene

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

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

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

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 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

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

Localization for OPLAH Gene

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 IBA,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:0006749 glutathione metabolic process IBA --
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 251
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
Phosphoric acid Approved Pharma 0
Pidolic Acid Approved, Experimental, 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
  • 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

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
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

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 33 34
  • 98.84 (n)
dog
(Canis familiaris)
Mammalia OPLAH 33 34
  • 89.74 (n)
cow
(Bos Taurus)
Mammalia OPLAH 33 34
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Oplah 33 16 34
  • 84.42 (n)
rat
(Rattus norvegicus)
Mammalia Oplah 33
  • 84.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OPLAH 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPLAH 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 75 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia oplah 33
  • 69.11 (n)
zebrafish
(Danio rerio)
Actinopterygii OPLAH 34
  • 69 (a)
OneToOne
si:dkey-9l5.2 33
  • 64.46 (n)
Dr.11954 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001606 33
  • 65.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4752 33 34
  • 60.22 (n)
worm
(Caenorhabditis elegans)
Secernentea Y38F2AR.12 33 34
  • 57.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR114C 33
  • 52.25 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18975g 33
  • 50.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXP1 33 34
  • 50.05 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons OXP1 33
  • 55.61 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6099 33
rice
(Oryza sativa)
Liliopsida Os.20353 33
wheat
(Triticum aestivum)
Liliopsida Ta.3112 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04569 33
  • 58.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC11D3.15 33
  • 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 Variation AA Info Type
rs185836803 pathogenic, 5-Oxoprolinase deficiency 144,052,487(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs398122906 pathogenic, 5-Oxoprolinase deficiency 144,058,129(-) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs539275646 likely-pathogenic, not provided 144,055,135(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs147874057 uncertain-significance, not specified 144,053,310(-) G/A/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000846332 -- 144,060,753(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Novoseek, and GeneCards

- 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 58
  2. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. (PMID: 21651516) Almaghlouth IA … Alkuraya FS (Clinical genetics 2012) 3 4 58
  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 22 58
  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) 22 25 58
  5. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. (PMID: 27477828) Sass JO … van Karnebeek CD (Molecular genetics and metabolism 2016) 3 58

Products for OPLAH Gene

Sources for OPLAH Gene

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