Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	2746
Gene name	Glutamate dehydrogenase 1
Gene symbol	GLUD1
Synonyms (NCBI Gene)	GDHGDH1GLUDhGDH1
Chromosome	10
Chromosome location	10q23.2
Summary	This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretio

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SNP ID	Visualize variation	Clinical significance	Consequence
rs56275071	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909730	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909731	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909732	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909733	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909734	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909735	T>G	Pathogenic	Missense variant, coding sequence variant
rs121909736	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909737	C>T	Pathogenic	Missense variant, coding sequence variant
rs797045597	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554906133	T>C	Pathogenic	Missense variant, coding sequence variant

340

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048701	hsa-miR-99a-5p	CLASH	23622248
MIRT045359	hsa-miR-185-5p	CLASH	23622248
MIRT041407	hsa-miR-193b-3p	CLASH	23622248
MIRT038802	hsa-miR-93-3p	CLASH	23622248
MIRT724259	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT724258	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT724257	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT724256	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT724255	hsa-miR-4477a	HITS-CLIP	19536157
MIRT724254	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT724253	hsa-miR-653-5p	HITS-CLIP	19536157
MIRT490455	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT490454	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT490453	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT490452	hsa-miR-7515	PAR-CLIP	23592263
MIRT490451	hsa-miR-3179	PAR-CLIP	23592263
MIRT490450	hsa-miR-4424	PAR-CLIP	23592263
MIRT490449	hsa-miR-609	PAR-CLIP	23592263
MIRT490448	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT490447	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT490446	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT490445	hsa-miR-4762-3p	PAR-CLIP	23592263
MIRT724259	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT724258	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT724257	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT724256	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT724255	hsa-miR-4477a	HITS-CLIP	19536157
MIRT724254	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT724253	hsa-miR-653-5p	HITS-CLIP	19536157
MIRT490455	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT490454	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT490453	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT490452	hsa-miR-7515	PAR-CLIP	23592263
MIRT490451	hsa-miR-3179	PAR-CLIP	23592263
MIRT490450	hsa-miR-4424	PAR-CLIP	23592263
MIRT490449	hsa-miR-609	PAR-CLIP	23592263
MIRT490448	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT490447	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT490446	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT490445	hsa-miR-4762-3p	PAR-CLIP	23592263
MIRT1021882	hsa-miR-103a	CLIP-seq
MIRT1021883	hsa-miR-107	CLIP-seq
MIRT1021884	hsa-miR-1226	CLIP-seq
MIRT1021885	hsa-miR-1269	CLIP-seq
MIRT1021886	hsa-miR-1269b	CLIP-seq
MIRT1021887	hsa-miR-1273g	CLIP-seq
MIRT1021888	hsa-miR-1277	CLIP-seq
MIRT1021889	hsa-miR-1288	CLIP-seq
MIRT1021890	hsa-miR-15a	CLIP-seq
MIRT1021891	hsa-miR-15b	CLIP-seq
MIRT1021892	hsa-miR-16	CLIP-seq
MIRT1021893	hsa-miR-185	CLIP-seq
MIRT1021894	hsa-miR-195	CLIP-seq
MIRT1021895	hsa-miR-2053	CLIP-seq
MIRT1021896	hsa-miR-219-5p	CLIP-seq
MIRT1021897	hsa-miR-2355-5p	CLIP-seq
MIRT1021898	hsa-miR-3117-5p	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT1021900	hsa-miR-3120-3p	CLIP-seq
MIRT1021901	hsa-miR-3136-5p	CLIP-seq
MIRT1021902	hsa-miR-3140-3p	CLIP-seq
MIRT1021903	hsa-miR-3144-5p	CLIP-seq
MIRT1021904	hsa-miR-3147	CLIP-seq
MIRT1021905	hsa-miR-3148	CLIP-seq
MIRT1021906	hsa-miR-3153	CLIP-seq
MIRT1021907	hsa-miR-3163	CLIP-seq
MIRT1021908	hsa-miR-3167	CLIP-seq
MIRT1021909	hsa-miR-3173-3p	CLIP-seq
MIRT1021910	hsa-miR-3188	CLIP-seq
MIRT1021911	hsa-miR-3191	CLIP-seq
MIRT1021912	hsa-miR-320a	CLIP-seq
MIRT1021913	hsa-miR-320b	CLIP-seq
MIRT1021914	hsa-miR-320c	CLIP-seq
MIRT1021915	hsa-miR-320d	CLIP-seq
MIRT1021916	hsa-miR-345	CLIP-seq
MIRT1021917	hsa-miR-3647-3p	CLIP-seq
MIRT1021918	hsa-miR-3657	CLIP-seq
MIRT1021919	hsa-miR-3660	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT1021921	hsa-miR-3941	CLIP-seq
MIRT1021922	hsa-miR-3978	CLIP-seq
MIRT1021923	hsa-miR-409-5p	CLIP-seq
MIRT1021924	hsa-miR-424	CLIP-seq
MIRT1021925	hsa-miR-4256	CLIP-seq
MIRT1021926	hsa-miR-4279	CLIP-seq
MIRT1021927	hsa-miR-4302	CLIP-seq
MIRT1021928	hsa-miR-4306	CLIP-seq
MIRT1021929	hsa-miR-4326	CLIP-seq
MIRT1021930	hsa-miR-4328	CLIP-seq
MIRT1021931	hsa-miR-4425	CLIP-seq
MIRT1021932	hsa-miR-4429	CLIP-seq
MIRT1021933	hsa-miR-4433	CLIP-seq
MIRT1021934	hsa-miR-4439	CLIP-seq
MIRT1021935	hsa-miR-4445	CLIP-seq
MIRT1021936	hsa-miR-4459	CLIP-seq
MIRT1021937	hsa-miR-4484	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT1021939	hsa-miR-4515	CLIP-seq
MIRT1021940	hsa-miR-452	CLIP-seq
MIRT1021941	hsa-miR-4520b-3p	CLIP-seq
MIRT1021942	hsa-miR-4522	CLIP-seq
MIRT1021943	hsa-miR-4526	CLIP-seq
MIRT1021944	hsa-miR-4529-3p	CLIP-seq
MIRT1021945	hsa-miR-4643	CLIP-seq
MIRT1021946	hsa-miR-4644	CLIP-seq
MIRT1021947	hsa-miR-4645-3p	CLIP-seq
MIRT1021948	hsa-miR-4652-3p	CLIP-seq
MIRT1021949	hsa-miR-4652-5p	CLIP-seq
MIRT1021950	hsa-miR-4656	CLIP-seq
MIRT1021951	hsa-miR-466	CLIP-seq
MIRT1021952	hsa-miR-4668-5p	CLIP-seq
MIRT1021953	hsa-miR-4669	CLIP-seq
MIRT1021954	hsa-miR-4672	CLIP-seq
MIRT1021955	hsa-miR-4676-3p	CLIP-seq
MIRT1021956	hsa-miR-4691-5p	CLIP-seq
MIRT1021957	hsa-miR-4695-5p	CLIP-seq
MIRT1021958	hsa-miR-4699-5p	CLIP-seq
MIRT1021959	hsa-miR-4708-3p	CLIP-seq
MIRT1021960	hsa-miR-4733-3p	CLIP-seq
MIRT1021961	hsa-miR-4740-5p	CLIP-seq
MIRT1021962	hsa-miR-4761-5p	CLIP-seq
MIRT1021963	hsa-miR-4768-3p	CLIP-seq
MIRT1021964	hsa-miR-4782-3p	CLIP-seq
MIRT1021965	hsa-miR-4789-3p	CLIP-seq
MIRT1021966	hsa-miR-4799-5p	CLIP-seq
MIRT1021967	hsa-miR-487a	CLIP-seq
MIRT1021968	hsa-miR-497	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021970	hsa-miR-508-3p	CLIP-seq
MIRT1021971	hsa-miR-548an	CLIP-seq
MIRT1021972	hsa-miR-548c-3p	CLIP-seq
MIRT1021973	hsa-miR-556-3p	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT1021975	hsa-miR-561	CLIP-seq
MIRT1021976	hsa-miR-577	CLIP-seq
MIRT1021977	hsa-miR-580	CLIP-seq
MIRT1021978	hsa-miR-582-5p	CLIP-seq
MIRT1021979	hsa-miR-590-3p	CLIP-seq
MIRT1021980	hsa-miR-600	CLIP-seq
MIRT1021981	hsa-miR-627	CLIP-seq
MIRT1021982	hsa-miR-628-5p	CLIP-seq
MIRT1021983	hsa-miR-653	CLIP-seq
MIRT1021984	hsa-miR-656	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021986	hsa-miR-876-5p	CLIP-seq
MIRT1021987	hsa-miR-890	CLIP-seq
MIRT1021988	hsa-miR-9	CLIP-seq
MIRT1021989	hsa-miR-943	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq
MIRT1021884	hsa-miR-1226	CLIP-seq
MIRT2002820	hsa-miR-1244	CLIP-seq
MIRT1021887	hsa-miR-1273g	CLIP-seq
MIRT1021893	hsa-miR-185	CLIP-seq
MIRT1021898	hsa-miR-3117-5p	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT1021903	hsa-miR-3144-5p	CLIP-seq
MIRT1021904	hsa-miR-3147	CLIP-seq
MIRT1021906	hsa-miR-3153	CLIP-seq
MIRT1021908	hsa-miR-3167	CLIP-seq
MIRT1021911	hsa-miR-3191	CLIP-seq
MIRT2002821	hsa-miR-3646	CLIP-seq
MIRT2002822	hsa-miR-377	CLIP-seq
MIRT1021921	hsa-miR-3941	CLIP-seq
MIRT2002823	hsa-miR-3973	CLIP-seq
MIRT1021923	hsa-miR-409-5p	CLIP-seq
MIRT1021926	hsa-miR-4279	CLIP-seq
MIRT1021928	hsa-miR-4306	CLIP-seq
MIRT1021931	hsa-miR-4425	CLIP-seq
MIRT1021933	hsa-miR-4433	CLIP-seq
MIRT2002824	hsa-miR-4452	CLIP-seq
MIRT2002825	hsa-miR-4454	CLIP-seq
MIRT1021936	hsa-miR-4459	CLIP-seq
MIRT2002826	hsa-miR-4495	CLIP-seq
MIRT1021940	hsa-miR-452	CLIP-seq
MIRT1021942	hsa-miR-4522	CLIP-seq
MIRT1021945	hsa-miR-4643	CLIP-seq
MIRT1021946	hsa-miR-4644	CLIP-seq
MIRT1021948	hsa-miR-4652-3p	CLIP-seq
MIRT1021949	hsa-miR-4652-5p	CLIP-seq
MIRT1021950	hsa-miR-4656	CLIP-seq
MIRT1021951	hsa-miR-466	CLIP-seq
MIRT2002827	hsa-miR-4666-5p	CLIP-seq
MIRT1021952	hsa-miR-4668-5p	CLIP-seq
MIRT1021954	hsa-miR-4672	CLIP-seq
MIRT1021955	hsa-miR-4676-3p	CLIP-seq
MIRT1021959	hsa-miR-4708-3p	CLIP-seq
MIRT1021960	hsa-miR-4733-3p	CLIP-seq
MIRT1021963	hsa-miR-4768-3p	CLIP-seq
MIRT2002828	hsa-miR-4775	CLIP-seq
MIRT1021965	hsa-miR-4789-3p	CLIP-seq
MIRT2002829	hsa-miR-512-5p	CLIP-seq
MIRT2002830	hsa-miR-520d-5p	CLIP-seq
MIRT2002831	hsa-miR-524-5p	CLIP-seq
MIRT1021980	hsa-miR-600	CLIP-seq
MIRT1021984	hsa-miR-656	CLIP-seq
MIRT1021986	hsa-miR-876-5p	CLIP-seq
MIRT1021987	hsa-miR-890	CLIP-seq
MIRT2002832	hsa-miR-935	CLIP-seq
MIRT1021882	hsa-miR-103a	CLIP-seq
MIRT1021883	hsa-miR-107	CLIP-seq
MIRT2235820	hsa-miR-1208	CLIP-seq
MIRT2235821	hsa-miR-1224-5p	CLIP-seq
MIRT1021884	hsa-miR-1226	CLIP-seq
MIRT2002820	hsa-miR-1244	CLIP-seq
MIRT1021887	hsa-miR-1273g	CLIP-seq
MIRT2235822	hsa-miR-1302	CLIP-seq
MIRT2235823	hsa-miR-140-5p	CLIP-seq
MIRT1021890	hsa-miR-15a	CLIP-seq
MIRT1021891	hsa-miR-15b	CLIP-seq
MIRT1021892	hsa-miR-16	CLIP-seq
MIRT2235824	hsa-miR-182	CLIP-seq
MIRT1021894	hsa-miR-195	CLIP-seq
MIRT1021895	hsa-miR-2053	CLIP-seq
MIRT1021896	hsa-miR-219-5p	CLIP-seq
MIRT1021897	hsa-miR-2355-5p	CLIP-seq
MIRT2235825	hsa-miR-30a	CLIP-seq
MIRT2235826	hsa-miR-30b	CLIP-seq
MIRT2235827	hsa-miR-30c	CLIP-seq
MIRT2235828	hsa-miR-30d	CLIP-seq
MIRT2235829	hsa-miR-30e	CLIP-seq
MIRT1021898	hsa-miR-3117-5p	CLIP-seq
MIRT1021900	hsa-miR-3120-3p	CLIP-seq
MIRT1021903	hsa-miR-3144-5p	CLIP-seq
MIRT2235830	hsa-miR-3145-5p	CLIP-seq
MIRT1021904	hsa-miR-3147	CLIP-seq
MIRT1021906	hsa-miR-3153	CLIP-seq
MIRT2235831	hsa-miR-3157-5p	CLIP-seq
MIRT1021908	hsa-miR-3167	CLIP-seq
MIRT2235832	hsa-miR-3174	CLIP-seq
MIRT1021911	hsa-miR-3191	CLIP-seq
MIRT2235833	hsa-miR-3192	CLIP-seq
MIRT2235834	hsa-miR-3194-5p	CLIP-seq
MIRT2235835	hsa-miR-3614-5p	CLIP-seq
MIRT2002821	hsa-miR-3646	CLIP-seq
MIRT1021918	hsa-miR-3657	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT2235836	hsa-miR-3680	CLIP-seq
MIRT2235837	hsa-miR-3689a-5p	CLIP-seq
MIRT2235838	hsa-miR-3689b	CLIP-seq
MIRT2235839	hsa-miR-3689e	CLIP-seq
MIRT2235840	hsa-miR-3689f	CLIP-seq
MIRT2002822	hsa-miR-377	CLIP-seq
MIRT2235841	hsa-miR-3915	CLIP-seq
MIRT2235842	hsa-miR-3928	CLIP-seq
MIRT2002823	hsa-miR-3973	CLIP-seq
MIRT1021923	hsa-miR-409-5p	CLIP-seq
MIRT1021924	hsa-miR-424	CLIP-seq
MIRT2235843	hsa-miR-4270	CLIP-seq
MIRT1021926	hsa-miR-4279	CLIP-seq
MIRT2235844	hsa-miR-4298	CLIP-seq
MIRT1021927	hsa-miR-4302	CLIP-seq
MIRT2235845	hsa-miR-4314	CLIP-seq
MIRT1021929	hsa-miR-4326	CLIP-seq
MIRT2235846	hsa-miR-4420	CLIP-seq
MIRT1021931	hsa-miR-4425	CLIP-seq
MIRT2235847	hsa-miR-4441	CLIP-seq
MIRT1021935	hsa-miR-4445	CLIP-seq
MIRT1021937	hsa-miR-4484	CLIP-seq
MIRT2002826	hsa-miR-4495	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT1021940	hsa-miR-452	CLIP-seq
MIRT2235848	hsa-miR-4646-5p	CLIP-seq
MIRT1021948	hsa-miR-4652-3p	CLIP-seq
MIRT1021949	hsa-miR-4652-5p	CLIP-seq
MIRT1021950	hsa-miR-4656	CLIP-seq
MIRT2002827	hsa-miR-4666-5p	CLIP-seq
MIRT1021952	hsa-miR-4668-5p	CLIP-seq
MIRT1021953	hsa-miR-4669	CLIP-seq
MIRT1021955	hsa-miR-4676-3p	CLIP-seq
MIRT2235849	hsa-miR-4689	CLIP-seq
MIRT1021956	hsa-miR-4691-5p	CLIP-seq
MIRT1021959	hsa-miR-4708-3p	CLIP-seq
MIRT1021960	hsa-miR-4733-3p	CLIP-seq
MIRT2235850	hsa-miR-4751	CLIP-seq
MIRT1021962	hsa-miR-4761-5p	CLIP-seq
MIRT2002828	hsa-miR-4775	CLIP-seq
MIRT1021964	hsa-miR-4782-3p	CLIP-seq
MIRT1021968	hsa-miR-497	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021970	hsa-miR-508-3p	CLIP-seq
MIRT2002829	hsa-miR-512-5p	CLIP-seq
MIRT2002830	hsa-miR-520d-5p	CLIP-seq
MIRT2002831	hsa-miR-524-5p	CLIP-seq
MIRT1021971	hsa-miR-548an	CLIP-seq
MIRT1021973	hsa-miR-556-3p	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT1021977	hsa-miR-580	CLIP-seq
MIRT1021978	hsa-miR-582-5p	CLIP-seq
MIRT1021979	hsa-miR-590-3p	CLIP-seq
MIRT1021981	hsa-miR-627	CLIP-seq
MIRT1021983	hsa-miR-653	CLIP-seq
MIRT1021984	hsa-miR-656	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021986	hsa-miR-876-5p	CLIP-seq
MIRT1021987	hsa-miR-890	CLIP-seq
MIRT2235851	hsa-miR-921	CLIP-seq
MIRT2002832	hsa-miR-935	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq
MIRT2539717	hsa-miR-1287	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT2539718	hsa-miR-3135b	CLIP-seq
MIRT2539719	hsa-miR-3158-3p	CLIP-seq
MIRT2539720	hsa-miR-346	CLIP-seq
MIRT1021917	hsa-miR-3647-3p	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT2539721	hsa-miR-4288	CLIP-seq
MIRT1021930	hsa-miR-4328	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT2539722	hsa-miR-4638-3p	CLIP-seq
MIRT1021947	hsa-miR-4645-3p	CLIP-seq
MIRT1021958	hsa-miR-4699-5p	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT2539723	hsa-miR-632	CLIP-seq
MIRT2539724	hsa-miR-654-3p	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq
MIRT2539717	hsa-miR-1287	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT2539718	hsa-miR-3135b	CLIP-seq
MIRT2539719	hsa-miR-3158-3p	CLIP-seq
MIRT2681667	hsa-miR-3161	CLIP-seq
MIRT1021907	hsa-miR-3163	CLIP-seq
MIRT2539720	hsa-miR-346	CLIP-seq
MIRT2002821	hsa-miR-3646	CLIP-seq
MIRT1021917	hsa-miR-3647-3p	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT2539721	hsa-miR-4288	CLIP-seq
MIRT1021930	hsa-miR-4328	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT2539722	hsa-miR-4638-3p	CLIP-seq
MIRT1021947	hsa-miR-4645-3p	CLIP-seq
MIRT1021958	hsa-miR-4699-5p	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021972	hsa-miR-548c-3p	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT2539723	hsa-miR-632	CLIP-seq
MIRT2539724	hsa-miR-654-3p	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IBA
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IDA	11903050, 15578726
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IEA
GO:0004353	Function	Glutamate dehydrogenase [NAD(P)+] activity	IDA	11032875
GO:0004353	Function	Glutamate dehydrogenase [NAD(P)+] activity	IEA
GO:0004354	Function	Glutamate dehydrogenase (NADP+) activity	IEA
GO:0005515	Function	Protein binding	IPI	16959573, 28514442, 33961781, 37788672
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IDA	11032875
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	18688271
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	15578726, 19448744
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	19448744
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006537	Process	Glutamate biosynthetic process	IDA	11032875
GO:0006537	Process	Glutamate biosynthetic process	IEA
GO:0006538	Process	L-glutamate catabolic process	IBA
GO:0006538	Process	L-glutamate catabolic process	IDA	6121377, 11032875
GO:0006538	Process	L-glutamate catabolic process	IEA
GO:0006541	Process	Glutamine metabolic process	ISS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016639	Function	Oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor	IEA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0032024	Process	Positive regulation of insulin secretion	IMP	11502802
GO:0042803	Function	Protein homodimerization activity	IPI	11903050
GO:0043531	Function	ADP binding	IDA	12742085
GO:0043531	Function	ADP binding	IEA
GO:0070403	Function	NAD+ binding	IDA	12193607
GO:0070728	Function	L-leucine binding	IDA	12742085
GO:0070728	Function	L-leucine binding	IEA
GO:0072350	Process	Tricarboxylic acid metabolic process	ISS

MIM	HGNC	e!Ensembl
138130	4335	ENSG00000148672

P00367

Protein name

Glutamate dehydrogenase 1, mitochondrial (GDH 1) (EC 1.4.1.3)

Protein function

Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (P

PDB

1L1F , 1NR1 , 6DQG , 7UZM , 8KGY , 8SK8 , 8W4J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02812	ELFV_dehydrog_N	112 → 242	Glu/Leu/Phe/Val dehydrogenase, dimerisation domain	Domain
PF00208	ELFV_dehydrog	263 → 467	Glutamate/Leucine/Phenylalanine/Valine dehydrogenase	Domain

Sequence

MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADR
EDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSF
PIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFG
GAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTY
ASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFG
DKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILG
FPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLER
NIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGK
HGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYV
NAIEKVFKVYNEAGVTFT

Sequence length

558

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial hyperinsulinemia	Likely pathogenic; Pathogenic	rs121909730	RCV000760160	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hyperinsulinism	Likely pathogenic; Pathogenic	rs2539820425	RCV004700764	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLUD1-related disorder	Likely pathogenic	rs1424693533	RCV003406251	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism-hyperammonemia syndrome	Pathogenic; Likely pathogenic	rs2133777379, rs121909734, rs2539820425, rs121909730, rs121909731, rs121909735, rs56275071, rs121909737	RCV001385122 RCV002249060 RCV002465092 RCV000211493 RCV000017501 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERAMMONEMIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GLUD1 (glutamate dehydrogenase 1)