OAT (ornithine aminotransferase)

2014-11-01  

Identity

HGNC
LOCATION
10q26.13
LOCUSID
ALIAS
GACR,HOGA,OATASE,OKT
FUSION GENES

Other Information

Locus ID:

NCBI: 4942
MIM: 613349
HGNC: 8091
Ensembl: ENSG00000065154

Variants:

dbSNP: 4942
ClinVar: 4942
TCGA: ENSG00000065154
COSMIC: OAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065154ENST00000368845P04181
ENSG00000065154ENST00000368845A0A140VJQ4
ENSG00000065154ENST00000539214P04181

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221827992012Retinal structure, function, and molecular pathologic features in gyrate atrophy.18
160962752005Determinants of substrate specificity in omega-aminotransferases.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
230769892013Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.7
295272402018Altered DNA methylation is associated with aberrant gene expression in parenchymal but not airway fibroblasts isolated from individuals with COPD.5
244295512014OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.3
283451162017Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase.3
303669482019Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.3
206026152010Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?2
226744282012Gyrate 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.1

Citation

Dessen P

OAT (ornithine aminotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71083/oat