Property Summary

NCBI Gene PubMed Count 38
PubMed Score 715.14
PubTator Score 215.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 5.22618970961029E-8
ovarian cancer 8492 3.2216472214387E-6
glioblastoma 5572 6.09230206938786E-5
adult high grade glioma 2148 6.44319349368151E-5
medulloblastoma, large-cell 6234 1.1078828011515E-4
group 3 medulloblastoma 2254 1.62880773780442E-4
Pick disease 1893 5.05539393503098E-4
lung cancer 4473 0.00118607049581851
primitive neuroectodermal tumor 3031 0.00310198070620332
dermatomyositis 967 0.00844200789305229
active ulcerative colitis 477 0.0172304933894052
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0178285068265945
Breast cancer 3099 0.0301770928976917
Disease Target Count
Gyrate atrophy 8

Expression

  Differential Expression (13)

Disease log2 FC p
group 3 medulloblastoma -2.100 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.100 0.000
medulloblastoma, large-cell -2.100 0.000
primitive neuroectodermal tumor -1.100 0.003
intraductal papillary-mucinous adenoma (... 1.400 0.018
lung cancer -1.600 0.001
active ulcerative colitis -1.242 0.017
Breast cancer 3.000 0.030
adult high grade glioma -1.400 0.000
Pick disease -1.100 0.001
ovarian cancer -2.500 0.000
dermatomyositis 1.100 0.008

Synonym

Accession P04181 D3DRF0 Q16068 Q16069 Q68CS0 Q6IAV9 Q9UD03
Symbols OKT
GACR
HOGA
OATASE

Gene

OAT

PANTHER Protein Class (2)

PDB

1GBN   1OAT   2BYJ   2BYL   2CAN   2OAT  

  Ortholog (15)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly OMA Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (13)

PMID Text
26259030 Sequencing of the gene for ornithine aminotransferase reveals a homozygous mutation in our patient (base exchange c.498C>A in Exon 4).
25783604 Neurogenesis is inhibited by X-OAT during Xenopus embryonic development, but it is essential for Xenopus embryonic development. The Arg 180 and Leu 402 are crucial for these effects of the OAT molecule in development.
24429551 We identified a novel frameshift mutation (p.K169DfsX10) in the OAT gene. While an early arginine-restricted dietary treatment suppressed the fundus changes
24082780 Our report describes the first case of gyrate atrophy in the Korean population diagnosed by OAT gene analysis and treated with vitamin B6 dietary supplementation.
23125841 Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23076989 Data suggest that other factors besides the specific ornithine aminotransferase (OAT) genotype modulate atrophy of choroid and retina (GA) phenotype in patients.
22989455 OAT was a highly homologous and stable protein located in the mitochondria.
22674428 Molecular analysis revealed a new deletion c.532_536delTGGGG (p.Trp178X) and a known mutation c.897C>G (p.Tyr299X) in the OAT gene.
22182799 Fundus autofluorescence imaging can reveal the extent of neurosensory dysfunction in gyrate atrophy patients.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYL      1 - 70
WDVEGRKYFDFLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMN     71 - 140
TGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYN    141 - 210
DLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDY    211 - 280
ENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENAD    281 - 350
KLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVI    351 - 420
KEDELRESIEIINKTILSF                                                       421 - 439
//

Text Mined References (44)

PMID Year Title
26259030 2015 Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25783604 2015 Ornithine-?-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.
24429551 2014 OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24082780 2013 Gyrate atrophy of the choroid and retina diagnosed by ornithine-?-aminotransferase gene analysis: a case report.
23076989 2013 Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
22989455 2012 [Expression and bioinformatic analysis of ornithine aminotransferase ?in non-small cell lung cancer].
22674428 2012 Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
22182799 2012 Retinal structure, function, and molecular pathologic features in gyrate atrophy.
More...