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OAT (ornithine aminotransferase)

Gene

4942

Ornithine aminotransferase

OAT

GACR, HOGA, OATASE, OKT

10q26.13

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

Show/Hide all(70)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800456	C>A,G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs121965034	C>T	Pathogenic	5 prime UTR variant, missense variant, initiator codon variant, intron variant
rs121965035	CAG>-	Pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant
rs121965036	G>A,C	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs121965037	A>G	Pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121965038	C>A	Pathogenic	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs121965039	C>A,T	Pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121965040	C>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121965041	C>G	Pathogenic	Missense variant, coding sequence variant
rs121965042	C>T	Pathogenic	Missense variant, coding sequence variant
rs121965043	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121965044	G>A	Pathogenic	Missense variant, coding sequence variant
rs121965045	C>G	Pathogenic	Missense variant, coding sequence variant
rs121965046	T>C	Pathogenic	Missense variant, coding sequence variant
rs121965047	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121965048	G>T	Pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121965049	G>A	Pathogenic	Missense variant, coding sequence variant
rs121965050	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121965051	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121965052	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121965053	C>T	Pathogenic	Missense variant, coding sequence variant
rs121965054	A>G	Pathogenic	Missense variant, coding sequence variant
rs121965055	C>A	Pathogenic	Stop gained, coding sequence variant
rs121965056	A>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121965057	G>C	Pathogenic	Stop gained, coding sequence variant
rs121965058	G>A	Pathogenic	Stop gained, coding sequence variant
rs121965059	G>A	Pathogenic	Missense variant, coding sequence variant
rs121965060	G>C	Pathogenic	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs138895801	G>A,C	Conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, coding sequence variant
rs200068769	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606923	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs267606924	C>T	Pathogenic	Coding sequence variant, stop gained
rs267606925	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs386833594	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833595	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833596	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs386833597	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833598	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833599	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs386833601	G>C	Likely-pathogenic	Intron variant
rs386833602	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833603	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833604	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833605	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833606	CTC>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion, intron variant
rs386833607	->A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs386833608	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs386833609	CTCCTATCA>-	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, splice acceptor variant
rs386833610	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833611	TTCACGGTATAGCCC>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion, intron variant
rs386833612	CCCCA>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs386833613	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs386833614	C>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs386833615	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833616	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833617	G>A,C,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs386833618	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833619	T>C	Likely-pathogenic	Splice acceptor variant
rs386833620	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833621	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833622	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833623	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs759979499	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs770390524	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518927	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1554867698	ACGTACCT>TTAA	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice donor variant
rs1554867854	->CTCC	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs1564737136	CTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAATT>-	Likely-pathogenic	5 prime UTR variant, intron variant, splice acceptor variant, coding sequence variant
rs1589698958	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1589700702	C>T	Pathogenic	Splice donor variant

Show/Hide all(145)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002736	hsa-miR-1-3p	pSILAC	18668040
MIRT002736	hsa-miR-1-3p	Microarray	15685193
MIRT002736	hsa-miR-1-3p	Proteomics	18668040
MIRT002736	hsa-miR-1-3p	Microarray	15685193
MIRT048267	hsa-miR-196a-5p	CLASH	23622248
MIRT044197	hsa-miR-99b-5p	CLASH	23622248
MIRT1201249	hsa-miR-330-3p	CLIP-seq
MIRT1201250	hsa-miR-4736	CLIP-seq
MIRT1201251	hsa-miR-520d-5p	CLIP-seq
MIRT1201252	hsa-miR-524-5p	CLIP-seq
MIRT1201253	hsa-miR-657	CLIP-seq
MIRT2058158	hsa-miR-1323	CLIP-seq
MIRT2058159	hsa-miR-323-3p	CLIP-seq
MIRT2058160	hsa-miR-4427	CLIP-seq
MIRT2058161	hsa-miR-548o	CLIP-seq
MIRT2058162	hsa-miR-885-5p	CLIP-seq
MIRT1201249	hsa-miR-330-3p	CLIP-seq
MIRT1201250	hsa-miR-4736	CLIP-seq
MIRT1201253	hsa-miR-657	CLIP-seq
MIRT1201251	hsa-miR-520d-5p	CLIP-seq
MIRT1201252	hsa-miR-524-5p	CLIP-seq
MIRT1201249	hsa-miR-330-3p	CLIP-seq
MIRT1201250	hsa-miR-4736	CLIP-seq
MIRT1201251	hsa-miR-520d-5p	CLIP-seq
MIRT1201252	hsa-miR-524-5p	CLIP-seq
MIRT1201253	hsa-miR-657	CLIP-seq
MIRT2584669	hsa-miR-1	CLIP-seq
MIRT2584670	hsa-miR-1207-3p	CLIP-seq
MIRT2584671	hsa-miR-1252	CLIP-seq
MIRT2584672	hsa-miR-1303	CLIP-seq
MIRT2584673	hsa-miR-149	CLIP-seq
MIRT2584674	hsa-miR-206	CLIP-seq
MIRT2584675	hsa-miR-3074-3p	CLIP-seq
MIRT2584676	hsa-miR-3120-5p	CLIP-seq
MIRT2584677	hsa-miR-3144-3p	CLIP-seq
MIRT2584678	hsa-miR-3163	CLIP-seq
MIRT2584679	hsa-miR-3187-3p	CLIP-seq
MIRT2584680	hsa-miR-320a	CLIP-seq
MIRT2584681	hsa-miR-320b	CLIP-seq
MIRT2584682	hsa-miR-320c	CLIP-seq
MIRT2584683	hsa-miR-320d	CLIP-seq
MIRT2584684	hsa-miR-340	CLIP-seq
MIRT2584685	hsa-miR-3613-3p	CLIP-seq
MIRT2584686	hsa-miR-3673	CLIP-seq
MIRT2584687	hsa-miR-3913-3p	CLIP-seq
MIRT2584688	hsa-miR-3915	CLIP-seq
MIRT2584689	hsa-miR-3925-3p	CLIP-seq
MIRT2584690	hsa-miR-3926	CLIP-seq
MIRT2584691	hsa-miR-3928	CLIP-seq
MIRT2584692	hsa-miR-4267	CLIP-seq
MIRT2584693	hsa-miR-4272	CLIP-seq
MIRT2584694	hsa-miR-4275	CLIP-seq
MIRT2584695	hsa-miR-4421	CLIP-seq
MIRT2584696	hsa-miR-4429	CLIP-seq
MIRT2584697	hsa-miR-4432	CLIP-seq
MIRT2584698	hsa-miR-4435	CLIP-seq
MIRT2584699	hsa-miR-4476	CLIP-seq
MIRT2584700	hsa-miR-4517	CLIP-seq
MIRT2584701	hsa-miR-455-5p	CLIP-seq
MIRT2584702	hsa-miR-4670-3p	CLIP-seq
MIRT2584703	hsa-miR-4694-5p	CLIP-seq
MIRT2584704	hsa-miR-4700-3p	CLIP-seq
MIRT2584705	hsa-miR-4701-5p	CLIP-seq
MIRT2584706	hsa-miR-4709-3p	CLIP-seq
MIRT2584707	hsa-miR-4724-5p	CLIP-seq
MIRT2584708	hsa-miR-4742-3p	CLIP-seq
MIRT2584709	hsa-miR-485-5p	CLIP-seq
MIRT2584710	hsa-miR-489	CLIP-seq
MIRT2584711	hsa-miR-5095	CLIP-seq
MIRT2584712	hsa-miR-5096	CLIP-seq
MIRT2584713	hsa-miR-548ac	CLIP-seq
MIRT2584714	hsa-miR-548ae	CLIP-seq
MIRT2584715	hsa-miR-548aj	CLIP-seq
MIRT2584716	hsa-miR-548am	CLIP-seq
MIRT2584717	hsa-miR-548d-3p	CLIP-seq
MIRT2584718	hsa-miR-548s	CLIP-seq
MIRT2584719	hsa-miR-548x	CLIP-seq
MIRT2584720	hsa-miR-548z	CLIP-seq
MIRT2584721	hsa-miR-561	CLIP-seq
MIRT2584722	hsa-miR-586	CLIP-seq
MIRT2584723	hsa-miR-588	CLIP-seq
MIRT2584724	hsa-miR-613	CLIP-seq
MIRT2584725	hsa-miR-626	CLIP-seq
MIRT2584726	hsa-miR-766	CLIP-seq
MIRT2584727	hsa-miR-877	CLIP-seq
MIRT2584728	hsa-miR-889	CLIP-seq
MIRT2584669	hsa-miR-1	CLIP-seq
MIRT2584670	hsa-miR-1207-3p	CLIP-seq
MIRT2584671	hsa-miR-1252	CLIP-seq
MIRT2584672	hsa-miR-1303	CLIP-seq
MIRT2584673	hsa-miR-149	CLIP-seq
MIRT2584674	hsa-miR-206	CLIP-seq
MIRT2584675	hsa-miR-3074-3p	CLIP-seq
MIRT2584676	hsa-miR-3120-5p	CLIP-seq
MIRT2584677	hsa-miR-3144-3p	CLIP-seq
MIRT2584678	hsa-miR-3163	CLIP-seq
MIRT2584679	hsa-miR-3187-3p	CLIP-seq
MIRT2584680	hsa-miR-320a	CLIP-seq
MIRT2584681	hsa-miR-320b	CLIP-seq
MIRT2584682	hsa-miR-320c	CLIP-seq
MIRT2584683	hsa-miR-320d	CLIP-seq
MIRT2584684	hsa-miR-340	CLIP-seq
MIRT2584685	hsa-miR-3613-3p	CLIP-seq
MIRT2584686	hsa-miR-3673	CLIP-seq
MIRT2584687	hsa-miR-3913-3p	CLIP-seq
MIRT2584688	hsa-miR-3915	CLIP-seq
MIRT2584689	hsa-miR-3925-3p	CLIP-seq
MIRT2584690	hsa-miR-3926	CLIP-seq
MIRT2584691	hsa-miR-3928	CLIP-seq
MIRT2584692	hsa-miR-4267	CLIP-seq
MIRT2584693	hsa-miR-4272	CLIP-seq
MIRT2584694	hsa-miR-4275	CLIP-seq
MIRT2584695	hsa-miR-4421	CLIP-seq
MIRT2584696	hsa-miR-4429	CLIP-seq
MIRT2584697	hsa-miR-4432	CLIP-seq
MIRT2584698	hsa-miR-4435	CLIP-seq
MIRT2584700	hsa-miR-4517	CLIP-seq
MIRT2584701	hsa-miR-455-5p	CLIP-seq
MIRT2584702	hsa-miR-4670-3p	CLIP-seq
MIRT2584703	hsa-miR-4694-5p	CLIP-seq
MIRT2584704	hsa-miR-4700-3p	CLIP-seq
MIRT2584705	hsa-miR-4701-5p	CLIP-seq
MIRT2584706	hsa-miR-4709-3p	CLIP-seq
MIRT2584707	hsa-miR-4724-5p	CLIP-seq
MIRT2584708	hsa-miR-4742-3p	CLIP-seq
MIRT2584709	hsa-miR-485-5p	CLIP-seq
MIRT2584710	hsa-miR-489	CLIP-seq
MIRT2584711	hsa-miR-5095	CLIP-seq
MIRT2584712	hsa-miR-5096	CLIP-seq
MIRT2584713	hsa-miR-548ac	CLIP-seq
MIRT2584714	hsa-miR-548ae	CLIP-seq
MIRT2584715	hsa-miR-548aj	CLIP-seq
MIRT2584716	hsa-miR-548am	CLIP-seq
MIRT2584717	hsa-miR-548d-3p	CLIP-seq
MIRT2584718	hsa-miR-548s	CLIP-seq
MIRT2584719	hsa-miR-548x	CLIP-seq
MIRT2584720	hsa-miR-548z	CLIP-seq
MIRT2584721	hsa-miR-561	CLIP-seq
MIRT2584722	hsa-miR-586	CLIP-seq
MIRT2584723	hsa-miR-588	CLIP-seq
MIRT2584724	hsa-miR-613	CLIP-seq
MIRT2584725	hsa-miR-626	CLIP-seq
MIRT2584726	hsa-miR-766	CLIP-seq
MIRT2584727	hsa-miR-877	CLIP-seq
MIRT2584728	hsa-miR-889	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
SP1	Unknown	2373169
TFAP2A	Unknown	2373169

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004587	Function	Ornithine-oxo-acid transaminase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	IDA	23076989
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0007601	Process	Visual perception	TAS	2793865
GO:0008652	Process	Cellular amino acid biosynthetic process	TAS
GO:0010121	Process	Arginine catabolic process to proline via ornithine	IBA	21873635
GO:0019544	Process	Arginine catabolic process to glutamate	IBA	21873635
GO:0030170	Function	Pyridoxal phosphate binding	IBA	21873635
GO:0042802	Function	Identical protein binding	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	23076989
GO:0050155	Function	Ornithine(lysine) transaminase activity	IEA
GO:0055129	Process	L-proline biosynthetic process	IEA

MIM	HGNC	e!Ensembl
613349	8091	ENSG00000065154

Protein

UniProt ID

P04181

Protein 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]

Protein function

Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate.

PDB

1GBN , 1OAT , 2BYJ , 2BYL , 2CAN , 2OAT , 5VWO , 6HX7 , 6OIA , 6V8C , 6V8D , 7JX9 , 7LK0 , 7LK1 , 7LNM , 7LOM , 7LON , 7T9Z , 7TA0 , 7TA1 , 7TED , 7TEV , 7TFP , 8EZ1 , 8V9M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00202	Aminotran_3	50 → 436	Aminotransferase class-III	Domain

Sequence

MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPV
ALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVL
GEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGR
TLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYP
VSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNEL
MKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVI
KEDELRESIEIINKTILSF

Sequence length

439

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways		Glutamate and glutamine metabolism

Associated diseases

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	dbSNP ID	References
Gyrate atrophy of choroid and retina	Gyrate atrophy of choroid and retina	rs121965047, rs121965059
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Show/Hide Unknown Diseases (9)

Unknown
Disease name	Disease term	dbSNP ID	References
Capsular cataract	Posterior subcapsular cataract
Chorioretinal atrophy	Chorioretinal atrophy
Disorder of eye	Disorder of eye
Gyrate atrophy	Gyrate Atrophy		3339136, 23076989, 2492100, 30251682, 1609808, 2793865, 1612597, 3375240, 7550347, 22674428, 9727717, 24429551, 7668253, 25264521, 23747282, 9815288, 7887415, 1737786, 10655512
Liver neoplasms	Liver neoplasms		28108177
Liver cancer	Malignant neoplasm of liver		28108177
Necrotizing enterocolitis	Necrotizing Enterocolitis		18806098
Nyctalopia	Nyctalopia
Subcapsular cataract	Subcapsular cataract

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