• Gene id: 4942

Gene Summary

• Gene Symbol: OAT   Gene   UCSC   Ensembl
• Aliases: GACR, HOGA, OATASE, OKT
• Gene name: ornithine aminotransferase
• Alternate names: ornithine aminotransferase, mitochondrial, gyrate atrophy, ornithine delta-aminotransferase, ornithine-oxo-acid aminotransferase, testicular tissue protein Li 130,
• Gene location: 10q26.13 (124418975: 124397302)     Exons: 13     NC_000010.11
• Gene summary(Entrez): 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 defi
• OMIM: 613349

SNPs

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

Protein Summary

• Protein general information: P04181  
  • Name: Ornithine aminotransferase, mitochondrial (EC 2.6.1.13) (Ornithine delta aminotransferase) (Ornithine oxo acid aminotransferase) [Cleaved into: Ornithine aminotransferase, hepatic form; Ornithine aminotransferase, renal form]
  • Length: 439  
  • Mass: 48535
• Sequence:

  MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEG
  RKYFDFLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETAC
  KLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVA
  AFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYP
  VSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKG
  LLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF

• Structural information:
  • Interpro: IPR005814  IPR010164  IPR015424  IPR015422  IPR015421  
  • Prosite: PS00600
  • CDD: cd00610
  • PDB: 1GBN 1OAT 2BYJ 2BYL 2CAN 2OAT 5VWO 6HX7 6OIA
  • PDBsum: 1GBN 1OAT 2BYJ 2BYL 2CAN 2OAT 5VWO 6HX7 6OIA
  • STRING: ENSP00000357838
• Other Databases: GeneCards:  OAT  Malacards:  OAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030170	pyridoxal phosphate binding	IBA	molecular function
GO:0010121	arginine catabolic process to proline via ornithine	IBA	biological process
GO:0042802	identical protein binding	IBA	molecular function
GO:0019544	arginine catabolic process to glutamate	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004587	ornithine-oxo-acid transaminase activity	IBA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004587	ornithine-oxo-acid transaminase activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004587	ornithine-oxo-acid transaminase activity	TAS	molecular function
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0004587	ornithine-oxo-acid transaminase activity	IEA	molecular function
GO:0050155	ornithine(lysine) transaminase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0055129	L-proline biosynthetic process	IEA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Ornithinaemia	KEGG:H00189
Secondary hyperammonemia	KEGG:H01400
Ornithinaemia	KEGG:H00189
gyrate atrophy	PMID:3339136
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)