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DLST (dihydrolipoamide S-succinyltransferase)

Gene

1743

Dihydrolipoamide S-succinyltransferase

DLST

DLTS, KGD2, PGL7, PPGL7

14q24.3

This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarat

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1270341616	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant

Show/Hide all(358)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048341	hsa-miR-106a-5p	CLASH	23622248
MIRT045733	hsa-miR-125a-5p	CLASH	23622248
MIRT042860	hsa-miR-324-3p	CLASH	23622248
MIRT041111	hsa-miR-503-5p	CLASH	23622248
MIRT040701	hsa-miR-92b-3p	CLASH	23622248
MIRT039832	hsa-miR-615-3p	CLASH	23622248
MIRT037800	hsa-miR-92b-5p	CLASH	23622248
MIRT036029	hsa-miR-1301-3p	CLASH	23622248
MIRT938777	hsa-let-7a	CLIP-seq
MIRT938778	hsa-let-7b	CLIP-seq
MIRT938779	hsa-let-7c	CLIP-seq
MIRT938780	hsa-let-7d	CLIP-seq
MIRT938781	hsa-let-7e	CLIP-seq
MIRT938782	hsa-let-7f	CLIP-seq
MIRT938783	hsa-let-7g	CLIP-seq
MIRT938784	hsa-let-7i	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT938786	hsa-miR-1273e	CLIP-seq
MIRT938787	hsa-miR-128	CLIP-seq
MIRT938788	hsa-miR-1304	CLIP-seq
MIRT938789	hsa-miR-133a	CLIP-seq
MIRT938790	hsa-miR-133b	CLIP-seq
MIRT938791	hsa-miR-1343	CLIP-seq
MIRT938792	hsa-miR-1912	CLIP-seq
MIRT938793	hsa-miR-1913	CLIP-seq
MIRT938794	hsa-miR-1914	CLIP-seq
MIRT938795	hsa-miR-1915	CLIP-seq
MIRT938796	hsa-miR-2115	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT938798	hsa-miR-2355-5p	CLIP-seq
MIRT938799	hsa-miR-3125	CLIP-seq
MIRT938800	hsa-miR-3150b-3p	CLIP-seq
MIRT938801	hsa-miR-3155	CLIP-seq
MIRT938802	hsa-miR-3155b	CLIP-seq
MIRT938803	hsa-miR-3156-3p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT938805	hsa-miR-3194-3p	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT938807	hsa-miR-331-3p	CLIP-seq
MIRT938808	hsa-miR-33a	CLIP-seq
MIRT938809	hsa-miR-33b	CLIP-seq
MIRT938810	hsa-miR-346	CLIP-seq
MIRT938811	hsa-miR-34b	CLIP-seq
MIRT938812	hsa-miR-361-3p	CLIP-seq
MIRT938813	hsa-miR-3616-5p	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT938815	hsa-miR-3647-5p	CLIP-seq
MIRT938816	hsa-miR-3690	CLIP-seq
MIRT938817	hsa-miR-3914	CLIP-seq
MIRT938818	hsa-miR-3916	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT938820	hsa-miR-3927	CLIP-seq
MIRT938821	hsa-miR-3941	CLIP-seq
MIRT938822	hsa-miR-3975	CLIP-seq
MIRT938823	hsa-miR-4254	CLIP-seq
MIRT938824	hsa-miR-4281	CLIP-seq
MIRT938825	hsa-miR-4287	CLIP-seq
MIRT938826	hsa-miR-4288	CLIP-seq
MIRT938827	hsa-miR-4301	CLIP-seq
MIRT938828	hsa-miR-4328	CLIP-seq
MIRT938829	hsa-miR-4436a	CLIP-seq
MIRT938830	hsa-miR-4458	CLIP-seq
MIRT938831	hsa-miR-4474-5p	CLIP-seq
MIRT938832	hsa-miR-4500	CLIP-seq
MIRT938833	hsa-miR-4521	CLIP-seq
MIRT938834	hsa-miR-4635	CLIP-seq
MIRT938835	hsa-miR-4650-3p	CLIP-seq
MIRT938836	hsa-miR-4650-5p	CLIP-seq
MIRT938837	hsa-miR-4659a-5p	CLIP-seq
MIRT938838	hsa-miR-4659b-5p	CLIP-seq
MIRT938839	hsa-miR-466	CLIP-seq
MIRT938840	hsa-miR-4662a-3p	CLIP-seq
MIRT938841	hsa-miR-4668-3p	CLIP-seq
MIRT938842	hsa-miR-4672	CLIP-seq
MIRT938843	hsa-miR-4684-5p	CLIP-seq
MIRT938844	hsa-miR-4685-3p	CLIP-seq
MIRT938845	hsa-miR-4686	CLIP-seq
MIRT938846	hsa-miR-4711-3p	CLIP-seq
MIRT938847	hsa-miR-4712-3p	CLIP-seq
MIRT938848	hsa-miR-4717-3p	CLIP-seq
MIRT938849	hsa-miR-4720-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT938851	hsa-miR-4768-5p	CLIP-seq
MIRT938852	hsa-miR-4769-3p	CLIP-seq
MIRT938853	hsa-miR-4775	CLIP-seq
MIRT938854	hsa-miR-4784	CLIP-seq
MIRT938855	hsa-miR-484	CLIP-seq
MIRT938856	hsa-miR-502-5p	CLIP-seq
MIRT938857	hsa-miR-516a-3p	CLIP-seq
MIRT938858	hsa-miR-518d-5p	CLIP-seq
MIRT938859	hsa-miR-519b-5p	CLIP-seq
MIRT938860	hsa-miR-519c-5p	CLIP-seq
MIRT938861	hsa-miR-520c-5p	CLIP-seq
MIRT938862	hsa-miR-526a	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938864	hsa-miR-573	CLIP-seq
MIRT938865	hsa-miR-607	CLIP-seq
MIRT938866	hsa-miR-622	CLIP-seq
MIRT938867	hsa-miR-632	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT938869	hsa-miR-7	CLIP-seq
MIRT938870	hsa-miR-760	CLIP-seq
MIRT938871	hsa-miR-769-5p	CLIP-seq
MIRT938872	hsa-miR-877	CLIP-seq
MIRT938873	hsa-miR-885-5p	CLIP-seq
MIRT938874	hsa-miR-938	CLIP-seq
MIRT938875	hsa-miR-98	CLIP-seq
MIRT1977743	hsa-miR-1205	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT1977744	hsa-miR-1253	CLIP-seq
MIRT1977745	hsa-miR-221	CLIP-seq
MIRT1977746	hsa-miR-222	CLIP-seq
MIRT1977747	hsa-miR-296-3p	CLIP-seq
MIRT1977748	hsa-miR-3120-3p	CLIP-seq
MIRT1977749	hsa-miR-3134	CLIP-seq
MIRT1977750	hsa-miR-3160-3p	CLIP-seq
MIRT1977751	hsa-miR-3184	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT1977752	hsa-miR-3936	CLIP-seq
MIRT1977753	hsa-miR-3978	CLIP-seq
MIRT1977754	hsa-miR-423-5p	CLIP-seq
MIRT1977755	hsa-miR-4270	CLIP-seq
MIRT938828	hsa-miR-4328	CLIP-seq
MIRT1977756	hsa-miR-4427	CLIP-seq
MIRT1977757	hsa-miR-4434	CLIP-seq
MIRT1977758	hsa-miR-4441	CLIP-seq
MIRT1977759	hsa-miR-4463	CLIP-seq
MIRT1977760	hsa-miR-4516	CLIP-seq
MIRT1977761	hsa-miR-4534	CLIP-seq
MIRT938836	hsa-miR-4650-5p	CLIP-seq
MIRT938841	hsa-miR-4668-3p	CLIP-seq
MIRT1977762	hsa-miR-4680-3p	CLIP-seq
MIRT938843	hsa-miR-4684-5p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT1977763	hsa-miR-545	CLIP-seq
MIRT1977764	hsa-miR-548v	CLIP-seq
MIRT1977765	hsa-miR-634	CLIP-seq
MIRT938869	hsa-miR-7	CLIP-seq
MIRT1977766	hsa-miR-711	CLIP-seq
MIRT1977767	hsa-miR-891b	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT2213064	hsa-miR-1228	CLIP-seq
MIRT2213065	hsa-miR-1254	CLIP-seq
MIRT2213066	hsa-miR-1261	CLIP-seq
MIRT2213067	hsa-miR-1468	CLIP-seq
MIRT938795	hsa-miR-1915	CLIP-seq
MIRT2213068	hsa-miR-197	CLIP-seq
MIRT2213069	hsa-miR-1972	CLIP-seq
MIRT2213070	hsa-miR-214	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT938798	hsa-miR-2355-5p	CLIP-seq
MIRT2213071	hsa-miR-3116	CLIP-seq
MIRT2213072	hsa-miR-3127-3p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT2213073	hsa-miR-3185	CLIP-seq
MIRT938810	hsa-miR-346	CLIP-seq
MIRT938811	hsa-miR-34b	CLIP-seq
MIRT2213074	hsa-miR-3591-3p	CLIP-seq
MIRT938813	hsa-miR-3616-5p	CLIP-seq
MIRT2213075	hsa-miR-3619-5p	CLIP-seq
MIRT938815	hsa-miR-3647-5p	CLIP-seq
MIRT2213076	hsa-miR-3679-3p	CLIP-seq
MIRT938817	hsa-miR-3914	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT938824	hsa-miR-4281	CLIP-seq
MIRT2213077	hsa-miR-4291	CLIP-seq
MIRT938828	hsa-miR-4328	CLIP-seq
MIRT938834	hsa-miR-4635	CLIP-seq
MIRT2213078	hsa-miR-4637	CLIP-seq
MIRT938836	hsa-miR-4650-5p	CLIP-seq
MIRT938841	hsa-miR-4668-3p	CLIP-seq
MIRT2213079	hsa-miR-4668-5p	CLIP-seq
MIRT938843	hsa-miR-4684-5p	CLIP-seq
MIRT938848	hsa-miR-4717-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT938851	hsa-miR-4768-5p	CLIP-seq
MIRT2213080	hsa-miR-5096	CLIP-seq
MIRT2213081	hsa-miR-548p	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938864	hsa-miR-573	CLIP-seq
MIRT1977765	hsa-miR-634	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT2213082	hsa-miR-761	CLIP-seq
MIRT2213083	hsa-miR-922	CLIP-seq
MIRT938813	hsa-miR-3616-5p	CLIP-seq
MIRT938815	hsa-miR-3647-5p	CLIP-seq
MIRT938834	hsa-miR-4635	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938864	hsa-miR-573	CLIP-seq
MIRT938777	hsa-let-7a	CLIP-seq
MIRT938778	hsa-let-7b	CLIP-seq
MIRT938779	hsa-let-7c	CLIP-seq
MIRT938780	hsa-let-7d	CLIP-seq
MIRT938781	hsa-let-7e	CLIP-seq
MIRT938782	hsa-let-7f	CLIP-seq
MIRT938783	hsa-let-7g	CLIP-seq
MIRT938784	hsa-let-7i	CLIP-seq
MIRT938820	hsa-miR-3927	CLIP-seq
MIRT938830	hsa-miR-4458	CLIP-seq
MIRT938832	hsa-miR-4500	CLIP-seq
MIRT938835	hsa-miR-4650-3p	CLIP-seq
MIRT938875	hsa-miR-98	CLIP-seq
MIRT938777	hsa-let-7a	CLIP-seq
MIRT938778	hsa-let-7b	CLIP-seq
MIRT938779	hsa-let-7c	CLIP-seq
MIRT938780	hsa-let-7d	CLIP-seq
MIRT938781	hsa-let-7e	CLIP-seq
MIRT938782	hsa-let-7f	CLIP-seq
MIRT938783	hsa-let-7g	CLIP-seq
MIRT938784	hsa-let-7i	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT1977744	hsa-miR-1253	CLIP-seq
MIRT2516909	hsa-miR-1266	CLIP-seq
MIRT2516910	hsa-miR-1293	CLIP-seq
MIRT938791	hsa-miR-1343	CLIP-seq
MIRT2516911	hsa-miR-1470	CLIP-seq
MIRT2516912	hsa-miR-15a	CLIP-seq
MIRT2516913	hsa-miR-15b	CLIP-seq
MIRT2516914	hsa-miR-16	CLIP-seq
MIRT2516915	hsa-miR-18a	CLIP-seq
MIRT2516916	hsa-miR-18b	CLIP-seq
MIRT938792	hsa-miR-1912	CLIP-seq
MIRT938794	hsa-miR-1914	CLIP-seq
MIRT2516917	hsa-miR-195	CLIP-seq
MIRT938796	hsa-miR-2115	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT2516918	hsa-miR-2467-3p	CLIP-seq
MIRT2516919	hsa-miR-3065-3p	CLIP-seq
MIRT2516920	hsa-miR-3074-5p	CLIP-seq
MIRT938799	hsa-miR-3125	CLIP-seq
MIRT2516921	hsa-miR-3152-5p	CLIP-seq
MIRT2516922	hsa-miR-3158-5p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT1977751	hsa-miR-3184	CLIP-seq
MIRT2213073	hsa-miR-3185	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT2516923	hsa-miR-330-3p	CLIP-seq
MIRT938807	hsa-miR-331-3p	CLIP-seq
MIRT2213074	hsa-miR-3591-3p	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT2516924	hsa-miR-3657	CLIP-seq
MIRT2516925	hsa-miR-3678-3p	CLIP-seq
MIRT2516926	hsa-miR-3685	CLIP-seq
MIRT938816	hsa-miR-3690	CLIP-seq
MIRT2516927	hsa-miR-377	CLIP-seq
MIRT2516928	hsa-miR-384	CLIP-seq
MIRT2516929	hsa-miR-3912	CLIP-seq
MIRT938818	hsa-miR-3916	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT2516930	hsa-miR-3922-5p	CLIP-seq
MIRT938820	hsa-miR-3927	CLIP-seq
MIRT1977754	hsa-miR-423-5p	CLIP-seq
MIRT2516931	hsa-miR-424	CLIP-seq
MIRT938823	hsa-miR-4254	CLIP-seq
MIRT1977755	hsa-miR-4270	CLIP-seq
MIRT2516932	hsa-miR-4277	CLIP-seq
MIRT1977757	hsa-miR-4434	CLIP-seq
MIRT938829	hsa-miR-4436a	CLIP-seq
MIRT1977758	hsa-miR-4441	CLIP-seq
MIRT938830	hsa-miR-4458	CLIP-seq
MIRT1977759	hsa-miR-4463	CLIP-seq
MIRT2516933	hsa-miR-4483	CLIP-seq
MIRT938832	hsa-miR-4500	CLIP-seq
MIRT1977760	hsa-miR-4516	CLIP-seq
MIRT2516934	hsa-miR-4518	CLIP-seq
MIRT2516935	hsa-miR-455-3p	CLIP-seq
MIRT938835	hsa-miR-4650-3p	CLIP-seq
MIRT2516936	hsa-miR-4667-3p	CLIP-seq
MIRT2516937	hsa-miR-4669	CLIP-seq
MIRT2516938	hsa-miR-4691-5p	CLIP-seq
MIRT2516939	hsa-miR-4709-3p	CLIP-seq
MIRT2516940	hsa-miR-4731-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT2516941	hsa-miR-4735-3p	CLIP-seq
MIRT2516942	hsa-miR-4774-3p	CLIP-seq
MIRT2516943	hsa-miR-4801	CLIP-seq
MIRT2516944	hsa-miR-493	CLIP-seq
MIRT2516945	hsa-miR-497	CLIP-seq
MIRT938857	hsa-miR-516a-3p	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT938869	hsa-miR-7	CLIP-seq
MIRT1977766	hsa-miR-711	CLIP-seq
MIRT2516946	hsa-miR-876-3p	CLIP-seq
MIRT938875	hsa-miR-98	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT1977744	hsa-miR-1253	CLIP-seq
MIRT2516909	hsa-miR-1266	CLIP-seq
MIRT2516910	hsa-miR-1293	CLIP-seq
MIRT938791	hsa-miR-1343	CLIP-seq
MIRT2679299	hsa-miR-147	CLIP-seq
MIRT2516911	hsa-miR-1470	CLIP-seq
MIRT2516912	hsa-miR-15a	CLIP-seq
MIRT2516913	hsa-miR-15b	CLIP-seq
MIRT2516914	hsa-miR-16	CLIP-seq
MIRT2516915	hsa-miR-18a	CLIP-seq
MIRT2516916	hsa-miR-18b	CLIP-seq
MIRT938792	hsa-miR-1912	CLIP-seq
MIRT938794	hsa-miR-1914	CLIP-seq
MIRT2516917	hsa-miR-195	CLIP-seq
MIRT938796	hsa-miR-2115	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT2516918	hsa-miR-2467-3p	CLIP-seq
MIRT2516919	hsa-miR-3065-3p	CLIP-seq
MIRT2516920	hsa-miR-3074-5p	CLIP-seq
MIRT938799	hsa-miR-3125	CLIP-seq
MIRT2516921	hsa-miR-3152-5p	CLIP-seq
MIRT2516922	hsa-miR-3158-5p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT1977751	hsa-miR-3184	CLIP-seq
MIRT2213073	hsa-miR-3185	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT2516923	hsa-miR-330-3p	CLIP-seq
MIRT938807	hsa-miR-331-3p	CLIP-seq
MIRT2213074	hsa-miR-3591-3p	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT2679300	hsa-miR-3650	CLIP-seq
MIRT2516924	hsa-miR-3657	CLIP-seq
MIRT2516925	hsa-miR-3678-3p	CLIP-seq
MIRT2516926	hsa-miR-3685	CLIP-seq
MIRT2516927	hsa-miR-377	CLIP-seq
MIRT2516928	hsa-miR-384	CLIP-seq
MIRT2679301	hsa-miR-3911	CLIP-seq
MIRT938818	hsa-miR-3916	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT2516930	hsa-miR-3922-5p	CLIP-seq
MIRT1977754	hsa-miR-423-5p	CLIP-seq
MIRT2516931	hsa-miR-424	CLIP-seq
MIRT1977755	hsa-miR-4270	CLIP-seq
MIRT2516932	hsa-miR-4277	CLIP-seq
MIRT1977757	hsa-miR-4434	CLIP-seq
MIRT938829	hsa-miR-4436a	CLIP-seq
MIRT1977758	hsa-miR-4441	CLIP-seq
MIRT2679302	hsa-miR-4455	CLIP-seq
MIRT1977759	hsa-miR-4463	CLIP-seq
MIRT2516933	hsa-miR-4483	CLIP-seq
MIRT1977760	hsa-miR-4516	CLIP-seq
MIRT2516934	hsa-miR-4518	CLIP-seq
MIRT2516935	hsa-miR-455-3p	CLIP-seq
MIRT2516936	hsa-miR-4667-3p	CLIP-seq
MIRT2516937	hsa-miR-4669	CLIP-seq
MIRT2516938	hsa-miR-4691-5p	CLIP-seq
MIRT2516939	hsa-miR-4709-3p	CLIP-seq
MIRT2516940	hsa-miR-4731-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT2516941	hsa-miR-4735-3p	CLIP-seq
MIRT2516942	hsa-miR-4774-3p	CLIP-seq
MIRT2516943	hsa-miR-4801	CLIP-seq
MIRT2679303	hsa-miR-485-5p	CLIP-seq
MIRT2516944	hsa-miR-493	CLIP-seq
MIRT2516945	hsa-miR-497	CLIP-seq
MIRT938857	hsa-miR-516a-3p	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT2679304	hsa-miR-644	CLIP-seq
MIRT1977766	hsa-miR-711	CLIP-seq
MIRT2516946	hsa-miR-876-3p	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	IMP	30929736
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	16169070, 29128334, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	29211711
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	29211711
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	8009371
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IMP	30929736
GO:0006099	Process	Tricarboxylic acid cycle	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006104	Process	Succinyl-CoA metabolic process	ISS
GO:0006554	Process	Lysine catabolic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016746	Function	Transferase activity, transferring acyl groups	IMP	30929736
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0033512	Process	L-lysine catabolic process to acetyl-CoA via saccharopine	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IDA	29211711
GO:0106077	Process	Histone succinylation	IDA	29211711

MIM	HGNC	e!Ensembl
126063	2911	ENSG00000119689

Protein

UniProt ID

P36957

Protein name

Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (EC 2.3.1.61) (2-oxoglutarate dehydrogenase complex component E2) (OGDC-E2) (Dihydrolipoamide succinyltransferase component of 2-oxoglutarate

Protein function

Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogen

PDB

6H05

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00364	Biotin_lipoyl	71 → 143	Biotin-requiring enzyme	Domain
PF00198	2-oxoacid_dh	220 → 451	2-oxoacid dehydrogenases acyltransferase (catalytic domain)	Domain

Sequence

MLSRSRCVSRAFSRSLSAFQKGNCPLGRRSLPGVSLCQGPGYPNSRKVVINNSVFSVRFF
RTTAVCKDDLVTVKTPAFAESVTEGDVRWEKAVGDTVAEDEVVCEIETDKTSVQVPSPAN
GVIEALLVPDGGKVEGGTPLFTLRKTGAAPAKAKPAEAPAAAAPKAEPTAAAVPPPAAPI
PTQMPPVPSPSQPPSGKPVSAVKPTVAPPLAEPGAGKGLRSEHREKMNRMRQRIAQRLKE
AQNTCAMLTTFNEIDMSNIQEMRARHKEAFLKKHNLKLGFMSAFVKASAFALQEQPVVNA
VIDDTTKEVVYRDYIDISVAVATPRGLVVPVIRNVEAMNFADIERTITELGEKARKNELA
IEDMDGGTFTISNGGVFGSLFGTPIINPPQSAILGMHGIFDRPVAIGGKVEVRPMMYVAL
TYDHRLIDGREAVTFLRKIKAAVEDPRVLLLDL

Sequence length

453

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Lysine degradation Tryptophan metabolism Lipoic acid metabolism Metabolic pathways Carbon metabolism 2-Oxocarboxylic acid metabolism		Glyoxylate metabolism and glycine degradation Lysine catabolism Citric acid cycle (TCA cycle)

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Glomerulonephritis	Glomerulonephritis	rs778043831
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hereditary pheochromocytoma-paraganglioma	Hereditary pheochromocytoma-paraganglioma	rs121908826, rs121908830, rs121908821, rs113560320, rs80338843, rs80338844, rs80338845, rs104894304, rs104894305, rs104894306, rs80338842, rs80338847, rs587776649, rs587776653, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs267607032, rs80338846, rs387906650, rs387906651, rs398122805, rs193922610, rs201286421, rs397516833, rs397516836, rs121908813, rs121908822, rs121908814, rs121908815, rs587778661, rs587781270, rs587781773, rs587781931, rs397516835, rs587782243, rs587782604, rs74315370, rs587782703, rs587782904, rs727503415, rs727504457, rs727503490, rs786203457, rs764575966, rs786201085, rs138996609, rs200245469, rs786202732, rs786201161, rs786201095, rs786201316, rs786201063, rs772551056, rs747198089, rs786203800, rs786203067, rs786203385, rs786202340, rs751000085, rs794728946, rs876660642, rs876658461, rs876658367, rs876658540, rs876658451, rs876658713, rs876658477, rs786203251, rs878854575, rs886039439, rs886041237, rs1057517818, rs774508076, rs121908816, rs1060501387, rs778582853, rs781590955, rs1060503751, rs1060500101, rs1553436874, rs898854295, rs981049067, rs778952116, rs1131691061, rs1131691049, rs1553266474, rs34309090, rs762812025, rs1131691052, rs1045881797, rs528442805, rs1553177672, rs1553177679, rs1553177687, rs1553177739, rs1553177742, rs1480267715, rs1553177772, rs1553178040, rs1553178041, rs760169139, rs1553179313, rs1306475361, rs1555187010, rs1555187083, rs1555187570, rs1050032491, rs1555187601, rs780133289, rs1553437737, rs1553437028, rs121908818, rs749527870, rs1553179359, rs1215337884, rs1553261757, rs1553177688, rs786202200, rs747249998, rs753554501, rs1554984631, rs1193255946, rs1555340550, rs1558756727, rs1558752379, rs1558752468, rs1553177290, rs1573969322, rs1167538050, rs1595166895, rs745989557, rs761956866, rs1573977924, rs750979204, rs752477890, rs1570945961, rs2077978300, rs1684148846, rs1684169157, rs1684169953, rs1684398953, rs949388785, rs2063104408, rs2063102803
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Paraganglioma	Paraganglioma	rs113560320, rs104894303, rs80338843, rs587776644, rs80338844, rs80338845, rs104894302, rs587776645, rs104894304, rs104894305, rs587776646, rs104894306, rs387906358, rs121908983, rs80338842, rs80338847, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776652, rs587776653, rs1061517, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315370, rs74315371, rs74315372, rs267607032, rs398122805, rs387906780, rs201286421, rs397516833, rs397516836, rs587778661, rs587781270, rs587782077, rs397516835, rs587782243, rs142441643, rs587782604, rs587782703, rs200397144, rs727503415, rs727504457, rs786203457, rs764575966, rs786203251, rs138996609, rs200245469, rs786202732, rs786201161, rs786203529, rs786201316, rs786201063, rs786202100, rs772551056, rs751000085, rs794728947, rs1553179340, rs781764920, rs876658461, rs876658367, rs876658451, rs876658713, rs876658486, rs151170408, rs876659130, rs746165168, rs752360961, rs886041867, rs748089700, rs1057517818, rs755235380, rs1060503757, rs1060503751, rs1060503762, rs1060503767, rs750380279, rs1554001843, rs771328239, rs1064794270, rs1064793567, rs1555187067, rs1131691062, rs898854295, rs778952116, rs1131691057, rs1131691061, rs1045881797, rs1553177666, rs1553998199, rs778207102, rs1554000360, rs553257776, rs1553999072, rs1553997617, rs1553177292, rs1553265817, rs1553998606, rs775827529, rs747939816, rs1159597886, rs1554002451, rs1555187574, rs1553998254, rs1553998613, rs1553177676, rs1553998229, rs747249998, rs775143272, rs1285132774, rs753554501, rs1555186662, rs1555187583, rs1553997340, rs1560980939, rs1560994766, rs751904543, rs1560992565, rs1566690018, rs1567650859, rs1203876038, rs1567650874, rs1567651815, rs1374026152, rs1270341616, rs1553177290, rs1579407009, rs1579437839, rs1579369969, rs1579402807, rs1579409293, rs778516878, rs761956866, rs1423978863, rs1579402180, rs1579410180, rs1734830402, rs1734957331, rs1735791499
Pheochromocytoma	Pheochromocytoma	rs121908826, rs121908830, rs121908821, rs5030821, rs5030820, rs104893826, rs5030808, rs587776644, rs80338844, rs104894306, rs104894309, rs75076352, rs75996173, rs77709286, rs74799832, rs387906651, rs121908813, rs121908822, rs121908814, rs121908825, rs121908827, rs121908829, rs121908831, rs121908815, rs587781773, rs786203251, rs786202100, rs864321636, rs864321638, rs864321639, rs864321643, rs864321641, rs864321642, rs864321640, rs864321644, rs876659130, rs876658477, rs878854594, rs886039439, rs886041237, rs121908816, rs1131691061, rs760169139, rs780133289, rs1558752379
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724

Show/Hide Unknown Diseases (13)

Unknown
Disease name	Disease term	dbSNP ID	References
Adrenal gland pheochromocytoma	Adrenal Gland Pheochromocytoma
Capillary hemangioma of retina	Capillary hemangioma of retina
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Cranial nerve compression	Cranial nerve compression
Episodic paroxysmal anxiety	Episodic paroxysmal anxiety
Extra-adrenal pheochromocytoma	Pheochromocytoma, Extra-Adrenal
Glomerulosclerosis	Glomerulosclerosis (disorder)
Hypertensive retinopathy	Hypertensive Retinopathy
Panic disorder	Panic Attacks
Paraganglioma of head and neck	Paraganglioma of head and neck
Pulsatile tinnitus	Pulsatile Tinnitus
Sinus tachycardia	Sinus Tachycardia
Vocal cord paralysis	Vocal Cord Paralysis

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