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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56983
Gene name	Protein O-glucosyltransferase 1
Gene symbol	POGLUT1
Synonyms (NCBI Gene)	C3orf9CLP46KDELCL1KTELC1LGMD2ZLGMDR21MDS010MDSRPRumihCLP46
Chromosome	3
Chromosome location	3q13.33
Summary	This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticu

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SNP ID	Visualize variation	Clinical significance	Consequence
rs550944082	T>C,G	Pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs587777293	G>A,T	Pathogenic	5 prime UTR variant, missense variant, upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs587777294	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777295	A>C	Pathogenic	Splice acceptor variant
rs587777296	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs587777297	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1560034617	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant

330

Show/Hide all (330)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022776	hsa-miR-124-3p	Microarray	18668037
MIRT1246941	hsa-miR-1229	CLIP-seq
MIRT1246942	hsa-miR-1257	CLIP-seq
MIRT1246943	hsa-miR-1267	CLIP-seq
MIRT1246944	hsa-miR-129-5p	CLIP-seq
MIRT1246945	hsa-miR-1303	CLIP-seq
MIRT1246946	hsa-miR-1305	CLIP-seq
MIRT1246947	hsa-miR-136	CLIP-seq
MIRT1246948	hsa-miR-137	CLIP-seq
MIRT1246949	hsa-miR-21	CLIP-seq
MIRT1246950	hsa-miR-2276	CLIP-seq
MIRT1246951	hsa-miR-27a	CLIP-seq
MIRT1246952	hsa-miR-27b	CLIP-seq
MIRT1246953	hsa-miR-3064-3p	CLIP-seq
MIRT1246954	hsa-miR-3119	CLIP-seq
MIRT1246955	hsa-miR-3200-5p	CLIP-seq
MIRT1246956	hsa-miR-3609	CLIP-seq
MIRT1246957	hsa-miR-3613-3p	CLIP-seq
MIRT1246958	hsa-miR-3653	CLIP-seq
MIRT1246959	hsa-miR-3658	CLIP-seq
MIRT1246960	hsa-miR-3684	CLIP-seq
MIRT1246961	hsa-miR-370	CLIP-seq
MIRT1246962	hsa-miR-3919	CLIP-seq
MIRT1246963	hsa-miR-3926	CLIP-seq
MIRT1246964	hsa-miR-4251	CLIP-seq
MIRT1246965	hsa-miR-4329	CLIP-seq
MIRT1246966	hsa-miR-4423-5p	CLIP-seq
MIRT1246967	hsa-miR-4480	CLIP-seq
MIRT1246968	hsa-miR-4691-5p	CLIP-seq
MIRT1246969	hsa-miR-4693-3p	CLIP-seq
MIRT1246970	hsa-miR-4696	CLIP-seq
MIRT1246971	hsa-miR-4715-3p	CLIP-seq
MIRT1246972	hsa-miR-4756-3p	CLIP-seq
MIRT1246973	hsa-miR-511	CLIP-seq
MIRT1246974	hsa-miR-513a-5p	CLIP-seq
MIRT1246975	hsa-miR-516a-3p	CLIP-seq
MIRT1246976	hsa-miR-548ah	CLIP-seq
MIRT1246977	hsa-miR-548s	CLIP-seq
MIRT1246978	hsa-miR-548t	CLIP-seq
MIRT1246979	hsa-miR-574-5p	CLIP-seq
MIRT1246980	hsa-miR-584	CLIP-seq
MIRT1246981	hsa-miR-590-5p	CLIP-seq
MIRT1246982	hsa-miR-607	CLIP-seq
MIRT1246983	hsa-miR-663b	CLIP-seq
MIRT1246944	hsa-miR-129-5p	CLIP-seq
MIRT1246945	hsa-miR-1303	CLIP-seq
MIRT1246950	hsa-miR-2276	CLIP-seq
MIRT2072861	hsa-miR-3074-5p	CLIP-seq
MIRT1246954	hsa-miR-3119	CLIP-seq
MIRT1246956	hsa-miR-3609	CLIP-seq
MIRT1246957	hsa-miR-3613-3p	CLIP-seq
MIRT2072862	hsa-miR-3915	CLIP-seq
MIRT2072863	hsa-miR-3928	CLIP-seq
MIRT1246970	hsa-miR-4696	CLIP-seq
MIRT2072864	hsa-miR-4710	CLIP-seq
MIRT1246973	hsa-miR-511	CLIP-seq
MIRT1246976	hsa-miR-548ah	CLIP-seq
MIRT1246978	hsa-miR-548t	CLIP-seq
MIRT2072865	hsa-miR-578	CLIP-seq
MIRT2072866	hsa-miR-581	CLIP-seq
MIRT1246980	hsa-miR-584	CLIP-seq
MIRT2300076	hsa-miR-219-1-3p	CLIP-seq
MIRT2300077	hsa-miR-338-3p	CLIP-seq
MIRT2300078	hsa-miR-3613-5p	CLIP-seq
MIRT2300079	hsa-miR-3622b-5p	CLIP-seq
MIRT1246958	hsa-miR-3653	CLIP-seq
MIRT1246959	hsa-miR-3658	CLIP-seq
MIRT1246961	hsa-miR-370	CLIP-seq
MIRT2300080	hsa-miR-3908	CLIP-seq
MIRT1246963	hsa-miR-3926	CLIP-seq
MIRT2300081	hsa-miR-4317	CLIP-seq
MIRT2300082	hsa-miR-4530	CLIP-seq
MIRT1246968	hsa-miR-4691-5p	CLIP-seq
MIRT2300083	hsa-miR-499-3p	CLIP-seq
MIRT2300084	hsa-miR-499a-3p	CLIP-seq
MIRT2300085	hsa-miR-513b	CLIP-seq
MIRT1246977	hsa-miR-548s	CLIP-seq
MIRT2300086	hsa-miR-571	CLIP-seq
MIRT1246983	hsa-miR-663b	CLIP-seq
MIRT2392796	hsa-miR-1255a	CLIP-seq
MIRT2392797	hsa-miR-1255b	CLIP-seq
MIRT1246944	hsa-miR-129-5p	CLIP-seq
MIRT1246945	hsa-miR-1303	CLIP-seq
MIRT1246954	hsa-miR-3119	CLIP-seq
MIRT2392798	hsa-miR-3165	CLIP-seq
MIRT2392799	hsa-miR-3691-5p	CLIP-seq
MIRT2392800	hsa-miR-377	CLIP-seq
MIRT2392801	hsa-miR-548u	CLIP-seq
MIRT2392802	hsa-miR-552	CLIP-seq
MIRT1246941	hsa-miR-1229	CLIP-seq
MIRT2596766	hsa-miR-1252	CLIP-seq
MIRT2392796	hsa-miR-1255a	CLIP-seq
MIRT2392797	hsa-miR-1255b	CLIP-seq
MIRT2596767	hsa-miR-127-5p	CLIP-seq
MIRT2596768	hsa-miR-1287	CLIP-seq
MIRT2596769	hsa-miR-1294	CLIP-seq
MIRT2596770	hsa-miR-1302	CLIP-seq
MIRT1246947	hsa-miR-136	CLIP-seq
MIRT2596771	hsa-miR-146a	CLIP-seq
MIRT2596772	hsa-miR-146b-5p	CLIP-seq
MIRT2596773	hsa-miR-147	CLIP-seq
MIRT2596774	hsa-miR-1827	CLIP-seq
MIRT2596775	hsa-miR-1915	CLIP-seq
MIRT2596776	hsa-miR-2116	CLIP-seq
MIRT2300076	hsa-miR-219-1-3p	CLIP-seq
MIRT2596777	hsa-miR-23a	CLIP-seq
MIRT2596778	hsa-miR-23b	CLIP-seq
MIRT2596779	hsa-miR-23c	CLIP-seq
MIRT2596780	hsa-miR-3074-3p	CLIP-seq
MIRT2596781	hsa-miR-3123	CLIP-seq
MIRT2596782	hsa-miR-3125	CLIP-seq
MIRT2596783	hsa-miR-3135b	CLIP-seq
MIRT2596784	hsa-miR-3148	CLIP-seq
MIRT2596785	hsa-miR-3153	CLIP-seq
MIRT2392798	hsa-miR-3165	CLIP-seq
MIRT2596786	hsa-miR-3168	CLIP-seq
MIRT2596787	hsa-miR-3188	CLIP-seq
MIRT1246955	hsa-miR-3200-5p	CLIP-seq
MIRT2596788	hsa-miR-337-3p	CLIP-seq
MIRT2300077	hsa-miR-338-3p	CLIP-seq
MIRT2596789	hsa-miR-3545-3p	CLIP-seq
MIRT2300078	hsa-miR-3613-5p	CLIP-seq
MIRT2300079	hsa-miR-3622b-5p	CLIP-seq
MIRT2596790	hsa-miR-3646	CLIP-seq
MIRT1246958	hsa-miR-3653	CLIP-seq
MIRT1246959	hsa-miR-3658	CLIP-seq
MIRT2596791	hsa-miR-3662	CLIP-seq
MIRT2596792	hsa-miR-3663-5p	CLIP-seq
MIRT1246960	hsa-miR-3684	CLIP-seq
MIRT2392799	hsa-miR-3691-5p	CLIP-seq
MIRT1246961	hsa-miR-370	CLIP-seq
MIRT2596793	hsa-miR-374c	CLIP-seq
MIRT2596794	hsa-miR-375	CLIP-seq
MIRT2392800	hsa-miR-377	CLIP-seq
MIRT2300080	hsa-miR-3908	CLIP-seq
MIRT2072862	hsa-miR-3915	CLIP-seq
MIRT2596795	hsa-miR-3916	CLIP-seq
MIRT1246962	hsa-miR-3919	CLIP-seq
MIRT2596796	hsa-miR-3924	CLIP-seq
MIRT2596797	hsa-miR-3925-5p	CLIP-seq
MIRT1246963	hsa-miR-3926	CLIP-seq
MIRT2596798	hsa-miR-3927	CLIP-seq
MIRT2072863	hsa-miR-3928	CLIP-seq
MIRT2596799	hsa-miR-3940-5p	CLIP-seq
MIRT2596800	hsa-miR-3977	CLIP-seq
MIRT2596801	hsa-miR-4259	CLIP-seq
MIRT2596802	hsa-miR-4261	CLIP-seq
MIRT2596803	hsa-miR-4282	CLIP-seq
MIRT2596804	hsa-miR-4298	CLIP-seq
MIRT2596805	hsa-miR-4311	CLIP-seq
MIRT2596806	hsa-miR-4316	CLIP-seq
MIRT2300081	hsa-miR-4317	CLIP-seq
MIRT2596807	hsa-miR-4326	CLIP-seq
MIRT2596808	hsa-miR-4451	CLIP-seq
MIRT2596809	hsa-miR-4477a	CLIP-seq
MIRT2596810	hsa-miR-4506	CLIP-seq
MIRT2596811	hsa-miR-4507	CLIP-seq
MIRT2596812	hsa-miR-4509	CLIP-seq
MIRT2300082	hsa-miR-4530	CLIP-seq
MIRT2596813	hsa-miR-4635	CLIP-seq
MIRT2596814	hsa-miR-4649-3p	CLIP-seq
MIRT2596815	hsa-miR-4668-3p	CLIP-seq
MIRT2596816	hsa-miR-4668-5p	CLIP-seq
MIRT2596817	hsa-miR-4679	CLIP-seq
MIRT1246968	hsa-miR-4691-5p	CLIP-seq
MIRT2596818	hsa-miR-4694-3p	CLIP-seq
MIRT2596819	hsa-miR-4698	CLIP-seq
MIRT2072864	hsa-miR-4710	CLIP-seq
MIRT2596820	hsa-miR-4712-3p	CLIP-seq
MIRT2596821	hsa-miR-4717-3p	CLIP-seq
MIRT2596822	hsa-miR-4726-3p	CLIP-seq
MIRT2596823	hsa-miR-4738-3p	CLIP-seq
MIRT2596824	hsa-miR-4744	CLIP-seq
MIRT1246972	hsa-miR-4756-3p	CLIP-seq
MIRT2596825	hsa-miR-4760-5p	CLIP-seq
MIRT2596826	hsa-miR-4761-3p	CLIP-seq
MIRT2596827	hsa-miR-4786-3p	CLIP-seq
MIRT2596828	hsa-miR-488	CLIP-seq
MIRT2596829	hsa-miR-494	CLIP-seq
MIRT2300083	hsa-miR-499-3p	CLIP-seq
MIRT2300084	hsa-miR-499a-3p	CLIP-seq
MIRT2596830	hsa-miR-509-3p	CLIP-seq
MIRT1246973	hsa-miR-511	CLIP-seq
MIRT2596831	hsa-miR-513a-3p	CLIP-seq
MIRT2300085	hsa-miR-513b	CLIP-seq
MIRT1246975	hsa-miR-516a-3p	CLIP-seq
MIRT2596832	hsa-miR-518a-5p	CLIP-seq
MIRT2596833	hsa-miR-520d-5p	CLIP-seq
MIRT2596834	hsa-miR-522	CLIP-seq
MIRT2596835	hsa-miR-524-5p	CLIP-seq
MIRT2596836	hsa-miR-527	CLIP-seq
MIRT2596837	hsa-miR-543	CLIP-seq
MIRT2596838	hsa-miR-544	CLIP-seq
MIRT2596839	hsa-miR-548m	CLIP-seq
MIRT2596840	hsa-miR-548p	CLIP-seq
MIRT1246977	hsa-miR-548s	CLIP-seq
MIRT2392802	hsa-miR-552	CLIP-seq
MIRT2596841	hsa-miR-558	CLIP-seq
MIRT2596842	hsa-miR-564	CLIP-seq
MIRT2300086	hsa-miR-571	CLIP-seq
MIRT2072865	hsa-miR-578	CLIP-seq
MIRT2072866	hsa-miR-581	CLIP-seq
MIRT1246980	hsa-miR-584	CLIP-seq
MIRT2596843	hsa-miR-599	CLIP-seq
MIRT2596844	hsa-miR-655	CLIP-seq
MIRT1246983	hsa-miR-663b	CLIP-seq
MIRT2596845	hsa-miR-664	CLIP-seq
MIRT2596846	hsa-miR-767-3p	CLIP-seq
MIRT2596847	hsa-miR-885-5p	CLIP-seq
MIRT2688329	hsa-miR-1193	CLIP-seq
MIRT2596766	hsa-miR-1252	CLIP-seq
MIRT2392796	hsa-miR-1255a	CLIP-seq
MIRT2392797	hsa-miR-1255b	CLIP-seq
MIRT2596767	hsa-miR-127-5p	CLIP-seq
MIRT2596768	hsa-miR-1287	CLIP-seq
MIRT2596769	hsa-miR-1294	CLIP-seq
MIRT2596770	hsa-miR-1302	CLIP-seq
MIRT1246947	hsa-miR-136	CLIP-seq
MIRT2596771	hsa-miR-146a	CLIP-seq
MIRT2596772	hsa-miR-146b-5p	CLIP-seq
MIRT2596773	hsa-miR-147	CLIP-seq
MIRT2596774	hsa-miR-1827	CLIP-seq
MIRT2596775	hsa-miR-1915	CLIP-seq
MIRT2596776	hsa-miR-2116	CLIP-seq
MIRT2688330	hsa-miR-216a	CLIP-seq
MIRT2300076	hsa-miR-219-1-3p	CLIP-seq
MIRT2688331	hsa-miR-2392	CLIP-seq
MIRT2596777	hsa-miR-23a	CLIP-seq
MIRT2596778	hsa-miR-23b	CLIP-seq
MIRT2596779	hsa-miR-23c	CLIP-seq
MIRT2688332	hsa-miR-2861	CLIP-seq
MIRT2596780	hsa-miR-3074-3p	CLIP-seq
MIRT2596781	hsa-miR-3123	CLIP-seq
MIRT2596782	hsa-miR-3125	CLIP-seq
MIRT2596783	hsa-miR-3135b	CLIP-seq
MIRT2688333	hsa-miR-3147	CLIP-seq
MIRT2596784	hsa-miR-3148	CLIP-seq
MIRT2596785	hsa-miR-3153	CLIP-seq
MIRT2392798	hsa-miR-3165	CLIP-seq
MIRT2596786	hsa-miR-3168	CLIP-seq
MIRT2688334	hsa-miR-3190	CLIP-seq
MIRT1246955	hsa-miR-3200-5p	CLIP-seq
MIRT2596788	hsa-miR-337-3p	CLIP-seq
MIRT2300077	hsa-miR-338-3p	CLIP-seq
MIRT2688335	hsa-miR-342-3p	CLIP-seq
MIRT2596789	hsa-miR-3545-3p	CLIP-seq
MIRT2300078	hsa-miR-3613-5p	CLIP-seq
MIRT2300079	hsa-miR-3622b-5p	CLIP-seq
MIRT2596790	hsa-miR-3646	CLIP-seq
MIRT1246958	hsa-miR-3653	CLIP-seq
MIRT1246959	hsa-miR-3658	CLIP-seq
MIRT2596791	hsa-miR-3662	CLIP-seq
MIRT2596792	hsa-miR-3663-5p	CLIP-seq
MIRT1246960	hsa-miR-3684	CLIP-seq
MIRT2392799	hsa-miR-3691-5p	CLIP-seq
MIRT1246961	hsa-miR-370	CLIP-seq
MIRT2596793	hsa-miR-374c	CLIP-seq
MIRT2596794	hsa-miR-375	CLIP-seq
MIRT2392800	hsa-miR-377	CLIP-seq
MIRT2300080	hsa-miR-3908	CLIP-seq
MIRT2072862	hsa-miR-3915	CLIP-seq
MIRT2596795	hsa-miR-3916	CLIP-seq
MIRT1246962	hsa-miR-3919	CLIP-seq
MIRT2596796	hsa-miR-3924	CLIP-seq
MIRT2596797	hsa-miR-3925-5p	CLIP-seq
MIRT1246963	hsa-miR-3926	CLIP-seq
MIRT2596798	hsa-miR-3927	CLIP-seq
MIRT2072863	hsa-miR-3928	CLIP-seq
MIRT2596799	hsa-miR-3940-5p	CLIP-seq
MIRT2596800	hsa-miR-3977	CLIP-seq
MIRT2688336	hsa-miR-3978	CLIP-seq
MIRT2596801	hsa-miR-4259	CLIP-seq
MIRT2596802	hsa-miR-4261	CLIP-seq
MIRT2596803	hsa-miR-4282	CLIP-seq
MIRT2596804	hsa-miR-4298	CLIP-seq
MIRT2688337	hsa-miR-4302	CLIP-seq
MIRT2596805	hsa-miR-4311	CLIP-seq
MIRT2596806	hsa-miR-4316	CLIP-seq
MIRT2300081	hsa-miR-4317	CLIP-seq
MIRT2596807	hsa-miR-4326	CLIP-seq
MIRT2596808	hsa-miR-4451	CLIP-seq
MIRT2596810	hsa-miR-4506	CLIP-seq
MIRT2596811	hsa-miR-4507	CLIP-seq
MIRT2596812	hsa-miR-4509	CLIP-seq
MIRT2300082	hsa-miR-4530	CLIP-seq
MIRT2596813	hsa-miR-4635	CLIP-seq
MIRT2596814	hsa-miR-4649-3p	CLIP-seq
MIRT2596815	hsa-miR-4668-3p	CLIP-seq
MIRT2596816	hsa-miR-4668-5p	CLIP-seq
MIRT2596817	hsa-miR-4679	CLIP-seq
MIRT1246968	hsa-miR-4691-5p	CLIP-seq
MIRT2596818	hsa-miR-4694-3p	CLIP-seq
MIRT2596819	hsa-miR-4698	CLIP-seq
MIRT2688338	hsa-miR-4699-3p	CLIP-seq
MIRT2072864	hsa-miR-4710	CLIP-seq
MIRT2596820	hsa-miR-4712-3p	CLIP-seq
MIRT2596822	hsa-miR-4726-3p	CLIP-seq
MIRT2596823	hsa-miR-4738-3p	CLIP-seq
MIRT2596824	hsa-miR-4744	CLIP-seq
MIRT1246972	hsa-miR-4756-3p	CLIP-seq
MIRT2596826	hsa-miR-4761-3p	CLIP-seq
MIRT2688339	hsa-miR-4766-5p	CLIP-seq
MIRT2688340	hsa-miR-4768-5p	CLIP-seq
MIRT2596827	hsa-miR-4786-3p	CLIP-seq
MIRT2596828	hsa-miR-488	CLIP-seq
MIRT2596829	hsa-miR-494	CLIP-seq
MIRT2300083	hsa-miR-499-3p	CLIP-seq
MIRT2300084	hsa-miR-499a-3p	CLIP-seq
MIRT2596830	hsa-miR-509-3p	CLIP-seq
MIRT2300085	hsa-miR-513b	CLIP-seq
MIRT1246975	hsa-miR-516a-3p	CLIP-seq
MIRT2596832	hsa-miR-518a-5p	CLIP-seq
MIRT2596833	hsa-miR-520d-5p	CLIP-seq
MIRT2596834	hsa-miR-522	CLIP-seq
MIRT2596835	hsa-miR-524-5p	CLIP-seq
MIRT2596836	hsa-miR-527	CLIP-seq
MIRT2596837	hsa-miR-543	CLIP-seq
MIRT2596838	hsa-miR-544	CLIP-seq
MIRT2596839	hsa-miR-548m	CLIP-seq
MIRT2596840	hsa-miR-548p	CLIP-seq
MIRT1246977	hsa-miR-548s	CLIP-seq
MIRT2392802	hsa-miR-552	CLIP-seq
MIRT2596841	hsa-miR-558	CLIP-seq
MIRT2300086	hsa-miR-571	CLIP-seq
MIRT1246980	hsa-miR-584	CLIP-seq
MIRT2596843	hsa-miR-599	CLIP-seq
MIRT2596844	hsa-miR-655	CLIP-seq
MIRT1246983	hsa-miR-663b	CLIP-seq
MIRT2596845	hsa-miR-664	CLIP-seq
MIRT2596846	hsa-miR-767-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001756	Process	Somitogenesis	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	16524674, 27807076
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0006493	Process	Protein O-linked glycosylation	IDA	21949356
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IEA
GO:0010470	Process	Regulation of gastrulation	IEA
GO:0010470	Process	Regulation of gastrulation	ISS
GO:0012505	Component	Endomembrane system	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0035251	Function	UDP-glucosyltransferase activity	IBA
GO:0035251	Function	UDP-glucosyltransferase activity	IDA	21081508, 30127001
GO:0035251	Function	UDP-glucosyltransferase activity	IEA
GO:0035251	Function	UDP-glucosyltransferase activity	IMP	27807076
GO:0035252	Function	UDP-xylosyltransferase activity	IBA
GO:0035252	Function	UDP-xylosyltransferase activity	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	IMP	27807076
GO:0045747	Process	Positive regulation of Notch signaling pathway	IBA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IMP	27807076
GO:0046527	Function	Glucosyltransferase activity	IDA	21949356
GO:0046527	Function	Glucosyltransferase activity	IEA
GO:0048318	Process	Axial mesoderm development	IEA
GO:0048339	Process	Paraxial mesoderm development	IEA
GO:0060537	Process	Muscle tissue development	IMP	27807076
GO:0072359	Process	Circulatory system development	IEA
GO:0140561	Function	EGF-domain serine glucosyltransferase activity	IEA
GO:0140562	Function	EGF-domain serine xylosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
615618	22954	ENSG00000163389

Q8NBL1

Protein name

Protein O-glucosyltransferase 1 (EC 2.4.1.376) (CAP10-like 46 kDa protein) (hCLP46) (KTEL motif-containing protein 1) (Myelodysplastic syndromes relative protein) (O-glucosyltransferase Rumi homolog) (hRumi) (Protein O-xylosyltransferase POGLUT1) (EC 2.4.

Protein function

Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21

PDB

5L0R , 5L0S , 5L0T , 5L0U , 5L0V , 5UB5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05686	Glyco_transf_90	49 → 391	Glycosyl transferase family 90	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus an

Sequence

MEWWASSPLRLWLLLFLLPSAQGRQKESGSKWKVFIDQINRSLENYEPCSSQNCSCYHGV
IEEDLTPFRGGISRKMMAEVVRRKLGTHYQITKNRLYRENDCMFPSRCSGVEHFILEVIG
RLPDMEMVINVRDYPQVPKWMEPAIPVFSFSKTSEYHDIMYPAWTFWEGGPAVWPIYPTG
LGRWDLFREDLVRSAAQWPWKKKNSTAYFRGSRTSPERDPLILLSRKNPKLVDAEYTKNQ
AWKSMKDTLGKPAAKDVHLVDHCKYKYLFNFRGVAASFRFKHLFLCGSLVFHVGDEWLEF
FYPQLKPWVHYIPVKTDLSNVQELLQFVKANDDVAQEIAERGSQFIRNHLQMDDITCYWE
NLLSEYSKFLSYNVTRRKGYDQIIPKMLKTEL

Sequence length

392

Interactions

View interactions

	KEGG
	Other types of O-glycan biosynthesis

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive limb-girdle muscular dystrophy type 2R1	Likely pathogenic; Pathogenic	rs762277732, rs550944082, rs1560034617	RCV002287545 RCV000412593 RCV002290007	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dowling-Degos disease 4	Likely pathogenic; Pathogenic	rs587777293, rs587777294, rs587777295, rs587777296	RCV000114419 RCV000114420 RCV000114421 RCV000114422	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWLING-DEGOS DISEASE	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POGLUT1-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19822096	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28481732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28481732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dowling Degos Disease	Dowling degos disease	Pubtator	24387993, 25157627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	GENOMICS_ENGLAND_DG	24387993		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	ORPHANET_DG	24387993		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dowling-Degos disease	Dowling-Degos Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	BEFREE	25157627, 28287404		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dowling-Degos disease 1	Dowling-Degos Disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DOWLING-DEGOS DISEASE 4	Dowling-Degos Disease	UNIPROT_DG	24387993, 27479915		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DOWLING-DEGOS DISEASE 4	Dowling-Degos Disease	GENOMICS_ENGLAND_DG	24387993		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DOWLING-DEGOS DISEASE 4	Dowling-Degos Disease	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25528443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	21458412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	39237981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	26685052		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21458412, 23692084, 28481732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23692084	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	19822096	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16524674, 20143914, 23692084, 28481732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	30643196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28481732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28481732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	29034878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	27807076		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21	Limb-Girdle Muscular Dystrophy	ORPHANET_DG	27807076		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	27807076, 29034878		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21	Limb-Girdle Muscular Dystrophy	UNIPROT_DG	27807076		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21	Limb-Girdle Muscular Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16524674, 19822096, 20143914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19822096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28481732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29953591		★★★★★ ★☆☆☆☆ Found in Text Mining only
POGLUT1-related limb-girdle muscular dystrophy R21	Limb-girdle muscular dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20143914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	30643196		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reticulate acropigmentation of Kitamura	Reticulate Acropigmentation Of Kitamura	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

POGLUT1 (protein O-glucosyltransferase 1)