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Aliases for OAT Gene

Aliases for OAT Gene

  • Ornithine Aminotransferase 2 3 2 5
  • Ornithine Delta-Aminotransferase 3 4
  • Gyrate Atrophy 2 3
  • EC 2.6.1.13 4 63
  • Ornithine Aminotransferase Precursor 2
  • Ornithine--Oxo-Acid Aminotransferase 4
  • Ornithine-Oxo-Acid Aminotransferase 3
  • Testicular Tissue Protein Li 130 3
  • EC 2.6.1 63
  • OATASE 3
  • GACR 3
  • HOGA 3
  • OKT 3

External Ids for OAT Gene

Previous GeneCards Identifiers for OAT Gene

  • GC10M125055
  • GC10M125289
  • GC10M126126
  • GC10M125660
  • GC10M126075
  • GC10M119770

Summaries for OAT Gene

Entrez Gene Summary for OAT Gene

  • This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]

GeneCards Summary for OAT Gene

OAT (Ornithine Aminotransferase) is a Protein Coding gene. Diseases associated with OAT include Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia and Parapsoriasis. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and ornithine-oxo-acid transaminase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OAT Gene

Genomics for OAT Gene

Regulatory Elements for OAT Gene

Enhancers for OAT 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 OAT on UCSC Golden Path with GeneCards custom track

Promoters for OAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OAT on UCSC Golden Path with GeneCards custom track

Genomic Location for OAT Gene

Chromosome:
10
Start:
124,397,303 bp from pter
End:
124,418,976 bp from pter
Size:
21,674 bases
Orientation:
Minus strand

Genomic View for OAT Gene

Genes around OAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OAT Gene

Proteins for OAT Gene

  • Protein details for OAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04181-OAT_HUMAN
    Recommended name:
    Ornithine aminotransferase, mitochondrial
    Protein Accession:
    P04181
    Secondary Accessions:
    • D3DRF0
    • Q16068
    • Q16069
    • Q68CS0
    • Q6IAV9
    • Q9UD03

    Protein attributes for OAT Gene

    Size:
    439 amino acids
    Molecular mass:
    48535 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homohexamer.

    Three dimensional structures from OCA and Proteopedia for OAT Gene

    Alternative splice isoforms for OAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OAT Gene

Proteomics data for OAT Gene at MOPED

Post-translational modifications for OAT Gene

  • Ubiquitination at Lys 49, Lys 66, Lys 374, and Lys 392
  • Modification sites at PhosphoSitePlus

Domains & Families for OAT Gene

Suggested Antigen Peptide Sequences for OAT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04181

UniProtKB/Swiss-Prot:

OAT_HUMAN :
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with OAT: view

No data available for Gene Families for OAT Gene

Function for OAT Gene

Molecular function for OAT Gene

GENATLAS Biochemistry:
ornithine aminotransferase,proline and ornithine metabolic pathway,mitochondrial matrix
UniProtKB/Swiss-Prot CatalyticActivity:
L-ornithine + a 2-oxo acid = L-glutamate 5-semialdehyde + an L-amino acid.

Enzyme Numbers (IUBMB) for OAT Gene

Gene Ontology (GO) - Molecular Function for OAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IBA --
genes like me logo Genes that share ontologies with OAT: view
genes like me logo Genes that share phenotypes with OAT: view

Human Phenotype Ontology for OAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OAT Gene

MGI Knock Outs for OAT:

Animal Model Products

miRNA for OAT Gene

No data available for Transcription Factor Targets and HOMER Transcription for OAT Gene

Localization for OAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for OAT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OAT Gene COMPARTMENTS Subcellular localization image for OAT gene
Compartment Confidence
mitochondrion 5
cytoskeleton 1
cytosol 1
extracellular 1
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for OAT Gene

Pathways & Interactions for OAT Gene

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

UniProtKB/Swiss-Prot P04181-OAT_HUMAN

  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1.

Gene Ontology (GO) - Biological Process for OAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034214 protein hexamerization IDA 9514741
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0055129 L-proline biosynthetic process IEA --
genes like me logo Genes that share ontologies with OAT: view

No data available for SIGNOR curated interactions for OAT Gene

Drugs & Compounds for OAT Gene

(15) Drugs for OAT Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Full agonist, Agonist, Target 67
Probenecid Approved Pharma Inhibition, Inhibitor 27
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Canaline Experimental Pharma Target, inhibitor 0
Gabaculine Experimental Pharma Target 0

(13) Additional Compounds for OAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-Canaline
  • L-2-Amino-4-(aminooxy)butyrate
  • L-2-Amino-4-(aminooxy)butyric acid
  • L-a-Amino-g-(aminooxy)-N-butyric acid
  • L-alpha-Amino-gamma-(aminooxy)-N-butyric acid
496-93-5
L-Glutamic gamma-semialdehyde
  • Glutamate-semialdehyde
  • Glutamic gamma-semialdehyde
  • L-Glutamate 5-semialdehyde
  • L-Glutamate-5-semialdehyde
  • L-Glutamate-gamma-semialdehyde
496-92-4
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with OAT: view

Transcripts for OAT Gene

Unigene Clusters for OAT Gene

Ornithine aminotransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OAT Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ·
SP1: - - - - - - - - - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5:
SP6: -
SP7: -
SP8: - - - - - - - -
SP9: - - - -
SP10: - - - -
SP11: - - -
SP12: - - -
SP13: -

ExUns: 13c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for OAT Gene

GeneLoc Exon Structure for
OAT
ECgene alternative splicing isoforms for
OAT

Expression for OAT Gene

mRNA expression in normal human tissues for OAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OAT Gene

This gene is overexpressed in Fetal gut (10.1), Salivary gland (9.9), Fetal testis (6.2), and Pancreatic juice (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for OAT Gene



SOURCE GeneReport for Unigene cluster for OAT Gene Hs.523332

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

Protein tissue co-expression partners for OAT Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for OAT Gene

Orthologs for OAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OAT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OAT 35
  • 89.6 (n)
  • 93.17 (a)
OAT 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OAT 35
  • 88 (n)
  • 92.71 (a)
OAT 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oat 35
  • 84.51 (n)
  • 90.89 (a)
Oat 16
Oat 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OAT 35
  • 99.85 (n)
  • 100 (a)
OAT 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oat 35
  • 83.9 (n)
  • 90.66 (a)
oppossum
(Monodelphis domestica)
Mammalia OAT 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves OAT 35
  • 78.44 (n)
  • 85.42 (a)
OAT 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OAT 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oat.1 35
  • 72.06 (n)
  • 80.41 (a)
Str.6824 35
African clawed frog
(Xenopus laevis)
Amphibia oat-prov 35
zebrafish
(Danio rerio)
Actinopterygii oat 35
  • 70.03 (n)
  • 77.46 (a)
oat 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.242 35
fruit fly
(Drosophila melanogaster)
Insecta CG8782 37
  • 70 (a)
Oat 35
  • 64.49 (n)
  • 71.1 (a)
Oat 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004793 35
  • 65.68 (n)
  • 72.52 (a)
worm
(Caenorhabditis elegans)
Secernentea C16A3.10a 37
  • 66 (a)
C16A3.10b 37
  • 63 (a)
C16A3.10 35
  • 64.91 (n)
  • 66.67 (a)
C16A3.10 36
  • 64 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER123W 35
  • 54.36 (n)
  • 56.03 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05247g 35
  • 57.96 (n)
  • 55.28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAR2 35
  • 56.28 (n)
  • 55.28 (a)
CAR2 36
  • 52 (a)
OneToOne
CAR2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-OAT 35
  • 55.83 (n)
  • 53 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.21 35
rice
(Oryza sativa)
Liliopsida Os.18830 35
Os03g0643300 35
  • 53.9 (n)
  • 51.81 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12481 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00194 35
  • 57.78 (n)
  • 57.95 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes car2 35
  • 57.54 (n)
  • 57.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
OneToOne
Species with no ortholog for OAT:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for OAT Gene

ENSEMBL:
Gene Tree for OAT (if available)
TreeFam:
Gene Tree for OAT (if available)

Paralogs for OAT Gene

genes like me logo Genes that share paralogs with OAT: view

No data available for Paralogs for OAT Gene

Variants for OAT Gene

Sequence variations from dbSNP and Humsavar for OAT Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_000565 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
VAR_000566 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
VAR_000567 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
VAR_000568 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
VAR_000569 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)

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

Variant ID Type Subtype PubMed ID
nsv832012 CNV Gain+Loss 17160897
nsv825602 CNV Gain 20364138
nsv825603 CNV Gain 20364138

Variation tolerance for OAT Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OAT Gene

Human Gene Mutation Database (HGMD)
OAT

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

Disorders for OAT Gene

MalaCards: The human disease database

(14) MalaCards diseases for OAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gyrate atrophy of choroid and retina with or without ornithinemia
  • gyrate atrophy
parapsoriasis
  • parapsoriasis nos
choroid disease
  • choroid diseases
reye syndrome
  • reye's syndrome
rheumatic myocarditis
  • active rheumatic fever with myocarditis
- elite association - COSMIC cancer census association via MalaCards
Search OAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OAT_HUMAN
  • Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]: A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence. {ECO:0000269 PubMed:1612597, ECO:0000269 PubMed:1737786, ECO:0000269 PubMed:23076989, ECO:0000269 PubMed:2793865, ECO:0000269 PubMed:3375240, ECO:0000269 PubMed:7668253, ECO:0000269 PubMed:7887415}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for OAT Gene

hyperornithinemia,with gyrate atrophy of choroid and retina

Relevant External Links for OAT

Genetic Association Database (GAD)
OAT
Human Genome Epidemiology (HuGE) Navigator
OAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OAT
genes like me logo Genes that share disorders with OAT: view

Publications for OAT Gene

  1. Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. (PMID: 1682785) Ramesh V. … Shih V.E. (Mol. Biol. Med. 1991) 2 3 4 23 67
  2. Cytotoxic effect of spermine on retinal pigment epithelial cells. (PMID: 17197567) Kaneko S. … Ito S. (Invest. Ophthalmol. Vis. Sci. 2007) 25 26
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Determinants of substrate specificity in omega-aminotransferases. (PMID: 16096275) Markova M. … John R.A. (J. Biol. Chem. 2005) 3 23

Products for OAT Gene

Sources for OAT Gene

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