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Aliases for OAT Gene

Aliases for OAT Gene

  • Ornithine Aminotransferase 2 3 2
  • Ornithine Delta-Aminotransferase 3 4
  • Gyrate Atrophy 2 3
  • EC 2.6.1.13 4 64
  • GACR 3 6
  • Ornithine Aminotransferase, Mitochondrial 3
  • Ornithine Aminotransferase Precursor 2
  • Ornithine--Oxo-Acid Aminotransferase 4
  • Ornithine-Oxo-Acid Aminotransferase 3
  • EC 2.6.1 64
  • OATASE 3
  • HOGA 3
  • OKT 3

External Ids for OAT Gene

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 eye disease. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include pyridoxal phosphate binding.

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

Genomic Location for OAT Gene

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

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

RefSeq DNA sequence for OAT Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys49, Lys66, Lys374, and Lys392

Other Protein References for OAT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for OAT Gene

UniProtKB/Swiss-Prot:

OAT_HUMAN
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.:
    • P04181
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:0004587 ornithine-oxo-acid transaminase activity EXP --
GO:0008483 transaminase activity --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with OAT: view
genes like me logo Genes that share phenotypes with OAT: view

Animal Models for OAT Gene

MGI Knock Outs for OAT:

miRNA for OAT Gene

miRTarBase miRNAs that target OAT

No data available for Transcription Factor Targeting 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
cytosol 1
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for OAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 2793865
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with OAT: view

Pathways 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:0007601 visual perception TAS 2793865
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0034214 protein hexamerization IDA 9514741
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with OAT: view

Compounds for OAT Gene

(6) HMDB Compounds for OAT Gene

Compound Synonyms Cas Number PubMed IDs
Famotidine
  • Amfamox
76824-35-6
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
L-Glutamic-gamma-semialdehyde
  • L-glutamate gamma-semialdehyde
496-92-4
Ornithine
  • (+)-S-Ornithine
70-26-8
Oxoglutaric acid
  • 2-Ketoglutarate
328-50-7

(4) Drugbank Compounds for OAT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Canaline
496-93-5 target inhibitor
Gabaculine
87980-11-8 target
L-Ornithine
  • (S)-2,5-Diaminopentanoate
70-26-8 target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(20) Novoseek inferred chemical compound relationships for OAT Gene

Compound -log(P) Hits PubMed IDs
5-fluoromethylornithine 95.4 9
ornithine 93.3 151
gamma-glutamyl semialdehyde 90.9 3
l-canaline 86.5 5
delta(1)pyrroline-5-carboxylate 80.3 2
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

Integrated Proteomics: protein expression 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 expressions with OAT: view

Orthologs for OAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OAT 36
  • 99.85 (n)
  • 100 (a)
OAT 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OAT 36
  • 89.6 (n)
  • 93.17 (a)
OAT 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OAT 36
  • 88 (n)
  • 92.71 (a)
OAT 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oat 36
  • 84.51 (n)
  • 90.89 (a)
Oat 16
Oat 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OAT 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 87 (a)
OneToMany
-- 37
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Oat 36
  • 83.9 (n)
  • 90.66 (a)
chicken
(Gallus gallus)
Aves OAT 36
  • 78.44 (n)
  • 85.42 (a)
OAT 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OAT 37
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia oat-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia oat.1 36
  • 72.06 (n)
  • 80.41 (a)
Str.6824 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.242 36
zebrafish
(Danio rerio)
Actinopterygii oat 36
  • 70.03 (n)
  • 77.46 (a)
oat 37
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004793 36
  • 65.68 (n)
  • 72.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Oat 36
  • 64.49 (n)
  • 71.1 (a)
Oat 37
  • 71 (a)
OneToOne
CG8782 38
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea C16A3.10 36
  • 64.91 (n)
  • 66.67 (a)
C16A3.10 37
  • 64 (a)
OneToOne
C16A3.10b 38
  • 63 (a)
C16A3.10a 38
  • 66 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER123W 36
  • 54.36 (n)
  • 56.03 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAR2 36
  • 56.28 (n)
  • 55.28 (a)
CAR2 37
  • 52 (a)
OneToOne
CAR2 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05247g 36
  • 57.96 (n)
  • 55.28 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.21 36
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-OAT 36
  • 55.83 (n)
  • 53 (a)
rice
(Oryza sativa)
Liliopsida Os.18830 36
Os03g0643300 36
  • 53.9 (n)
  • 51.81 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00194 36
  • 57.78 (n)
  • 57.95 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes car2 36
  • 57.54 (n)
  • 57.79 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12481 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs8182 -- 124,397,407(-) ATTAG(C/T)GTTTA utr-variant-3-prime
rs11461 Benign 124,400,865(-) TTAAA(C/T)GCTAT reference, synonymous-codon
rs1254951 -- 124,413,311(+) ACACA(C/T)ATATG intron-variant
rs1254952 -- 124,415,826(+) TACTG(G/T)GCCAA intron-variant, upstream-variant-2KB
rs1399930 -- 124,409,785(+) AAAGA(A/G)GATAT intron-variant

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

Relevant External Links for OAT Gene

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

Disorders for OAT Gene

(1) OMIM Diseases for OAT Gene (613349)

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.

(1) University of Copenhagen DISEASES for OAT Gene

(12) Novoseek inferred disease relationships for OAT Gene

Disease -log(P) Hits PubMed IDs
gyrate atrophy 98.5 49
ornithine aminotransferase deficiency 96.7 4
hyperammonemia 69.7 6
blindness 46.3 6
eye diseases 41.3 2

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
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
  2. Analysis of the human ornithine aminotransferase gene family. (PMID: 2373169) Zintz C.B. … Inana G. (Exp. Eye Res. 1990) 3 4 23
  3. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. (PMID: 7887415) Michaud J. … Mitchell G.A. (Am. J. Hum. Genet. 1995) 3 4 23
  4. Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine. (PMID: 9878407) Storici P. … Jansonius J.N. (J. Mol. Biol. 1999) 3 4 23
  5. A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. (PMID: 7668253) Kobayashi T. … Matsuzawa T. (Am. J. Hum. Genet. 1995) 3 4 23

Products for OAT Gene

Sources for OAT Gene

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