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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64131
Gene name Gene Name - the full gene name approved by the HGNC.	Xylosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	XYLT1
Synonyms (NCBI Gene) Gene synonyms aliases	DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DBQD2
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p12.3
Summary Summary of gene provided in NCBI Entrez Gene.	This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this g

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777366	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777368	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587777370	T>G	Pathogenic	Splice acceptor variant
rs769391314	C>A,T	Likely-pathogenic	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant, missense variant
rs1323802111	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1567300982	C>T	Pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051176	hsa-miR-16-5p	CLASH	23622248
MIRT1497738	hsa-let-7a	CLIP-seq
MIRT1497739	hsa-let-7b	CLIP-seq
MIRT1497740	hsa-let-7c	CLIP-seq
MIRT1497741	hsa-let-7d	CLIP-seq
MIRT1497742	hsa-let-7e	CLIP-seq
MIRT1497743	hsa-let-7f	CLIP-seq
MIRT1497744	hsa-let-7g	CLIP-seq
MIRT1497745	hsa-let-7i	CLIP-seq
MIRT1497746	hsa-miR-1185	CLIP-seq
MIRT1497747	hsa-miR-1193	CLIP-seq
MIRT1497748	hsa-miR-1226	CLIP-seq
MIRT1497749	hsa-miR-1229	CLIP-seq
MIRT1497750	hsa-miR-1255a	CLIP-seq
MIRT1497751	hsa-miR-1255b	CLIP-seq
MIRT1497752	hsa-miR-1271	CLIP-seq
MIRT1497753	hsa-miR-1273f	CLIP-seq
MIRT1497754	hsa-miR-1283	CLIP-seq
MIRT1497755	hsa-miR-136	CLIP-seq
MIRT1497756	hsa-miR-145	CLIP-seq
MIRT1497757	hsa-miR-146a	CLIP-seq
MIRT1497758	hsa-miR-146b-5p	CLIP-seq
MIRT1497759	hsa-miR-149	CLIP-seq
MIRT1497760	hsa-miR-150	CLIP-seq
MIRT1497761	hsa-miR-151-3p	CLIP-seq
MIRT1497762	hsa-miR-153	CLIP-seq
MIRT1497763	hsa-miR-15a	CLIP-seq
MIRT1497764	hsa-miR-15b	CLIP-seq
MIRT1497765	hsa-miR-16	CLIP-seq
MIRT1497766	hsa-miR-181a	CLIP-seq
MIRT1497767	hsa-miR-181b	CLIP-seq
MIRT1497768	hsa-miR-181c	CLIP-seq
MIRT1497769	hsa-miR-181d	CLIP-seq
MIRT1497770	hsa-miR-182	CLIP-seq
MIRT1497771	hsa-miR-1825	CLIP-seq
MIRT1497772	hsa-miR-185	CLIP-seq
MIRT1497773	hsa-miR-1915	CLIP-seq
MIRT1497774	hsa-miR-195	CLIP-seq
MIRT1497775	hsa-miR-199a-5p	CLIP-seq
MIRT1497776	hsa-miR-199b-5p	CLIP-seq
MIRT1497777	hsa-miR-19a	CLIP-seq
MIRT1497778	hsa-miR-19b	CLIP-seq
MIRT1497779	hsa-miR-202	CLIP-seq
MIRT1497780	hsa-miR-214	CLIP-seq
MIRT1497781	hsa-miR-2278	CLIP-seq
MIRT1497782	hsa-miR-2392	CLIP-seq
MIRT1497783	hsa-miR-2467-3p	CLIP-seq
MIRT1497784	hsa-miR-3064-3p	CLIP-seq
MIRT1497785	hsa-miR-3064-5p	CLIP-seq
MIRT1497786	hsa-miR-3120-3p	CLIP-seq
MIRT1497787	hsa-miR-3121-5p	CLIP-seq
MIRT1497788	hsa-miR-3123	CLIP-seq
MIRT1497789	hsa-miR-3134	CLIP-seq
MIRT1497790	hsa-miR-3140-5p	CLIP-seq
MIRT1497791	hsa-miR-3150b-3p	CLIP-seq
MIRT1497792	hsa-miR-3153	CLIP-seq
MIRT1497793	hsa-miR-3160-5p	CLIP-seq
MIRT1497794	hsa-miR-3162-3p	CLIP-seq
MIRT1497795	hsa-miR-3166	CLIP-seq
MIRT1497796	hsa-miR-3170	CLIP-seq
MIRT1497797	hsa-miR-3174	CLIP-seq
MIRT1497798	hsa-miR-3183	CLIP-seq
MIRT1497799	hsa-miR-3194-3p	CLIP-seq
MIRT1497800	hsa-miR-323-3p	CLIP-seq
MIRT1497801	hsa-miR-323b-5p	CLIP-seq
MIRT1497802	hsa-miR-331-3p	CLIP-seq
MIRT1497803	hsa-miR-3529	CLIP-seq
MIRT1497804	hsa-miR-3605-5p	CLIP-seq
MIRT1497805	hsa-miR-3613-3p	CLIP-seq
MIRT1497806	hsa-miR-3619-5p	CLIP-seq
MIRT1497807	hsa-miR-3622a-3p	CLIP-seq
MIRT1497808	hsa-miR-3622b-3p	CLIP-seq
MIRT1497809	hsa-miR-3664-5p	CLIP-seq
MIRT1497810	hsa-miR-3679-3p	CLIP-seq
MIRT1497811	hsa-miR-3679-5p	CLIP-seq
MIRT1497812	hsa-miR-3686	CLIP-seq
MIRT1497813	hsa-miR-3714	CLIP-seq
MIRT1497814	hsa-miR-379	CLIP-seq
MIRT1497815	hsa-miR-3921	CLIP-seq
MIRT1497816	hsa-miR-3925-3p	CLIP-seq
MIRT1497817	hsa-miR-3977	CLIP-seq
MIRT1497818	hsa-miR-409-3p	CLIP-seq
MIRT1497819	hsa-miR-424	CLIP-seq
MIRT1497820	hsa-miR-4251	CLIP-seq
MIRT1497821	hsa-miR-4257	CLIP-seq
MIRT1497822	hsa-miR-4262	CLIP-seq
MIRT1497823	hsa-miR-4291	CLIP-seq
MIRT1497824	hsa-miR-4292	CLIP-seq
MIRT1497825	hsa-miR-4306	CLIP-seq
MIRT1497826	hsa-miR-4323	CLIP-seq
MIRT1497827	hsa-miR-4328	CLIP-seq
MIRT1497828	hsa-miR-4329	CLIP-seq
MIRT1497829	hsa-miR-433	CLIP-seq
MIRT1497830	hsa-miR-4446-5p	CLIP-seq
MIRT1497831	hsa-miR-4451	CLIP-seq
MIRT1497832	hsa-miR-4458	CLIP-seq
MIRT1497833	hsa-miR-4463	CLIP-seq
MIRT1497834	hsa-miR-4468	CLIP-seq
MIRT1497835	hsa-miR-448	CLIP-seq
MIRT1497836	hsa-miR-4499	CLIP-seq
MIRT1497837	hsa-miR-4500	CLIP-seq
MIRT1497838	hsa-miR-4520a-3p	CLIP-seq
MIRT1497839	hsa-miR-4520b-3p	CLIP-seq
MIRT1497840	hsa-miR-4529-3p	CLIP-seq
MIRT1497841	hsa-miR-4536	CLIP-seq
MIRT1497842	hsa-miR-4644	CLIP-seq
MIRT1497843	hsa-miR-4649-3p	CLIP-seq
MIRT1497844	hsa-miR-4650-3p	CLIP-seq
MIRT1497845	hsa-miR-4652-3p	CLIP-seq
MIRT1497846	hsa-miR-4653-5p	CLIP-seq
MIRT1497847	hsa-miR-4684-3p	CLIP-seq
MIRT1497848	hsa-miR-4689	CLIP-seq
MIRT1497849	hsa-miR-4690-3p	CLIP-seq
MIRT1497850	hsa-miR-4693-3p	CLIP-seq
MIRT1497851	hsa-miR-4695-3p	CLIP-seq
MIRT1497852	hsa-miR-4714-5p	CLIP-seq
MIRT1497853	hsa-miR-4717-5p	CLIP-seq
MIRT1497854	hsa-miR-4720-3p	CLIP-seq
MIRT1497855	hsa-miR-4723-3p	CLIP-seq
MIRT1497856	hsa-miR-4726-3p	CLIP-seq
MIRT1497857	hsa-miR-4733-3p	CLIP-seq
MIRT1497858	hsa-miR-4753-5p	CLIP-seq
MIRT1497859	hsa-miR-4757-5p	CLIP-seq
MIRT1497860	hsa-miR-4759	CLIP-seq
MIRT1497861	hsa-miR-4765	CLIP-seq
MIRT1497862	hsa-miR-4781-3p	CLIP-seq
MIRT1497863	hsa-miR-4784	CLIP-seq
MIRT1497864	hsa-miR-4793-5p	CLIP-seq
MIRT1497865	hsa-miR-4794	CLIP-seq
MIRT1497866	hsa-miR-4796-3p	CLIP-seq
MIRT1497867	hsa-miR-485-3p	CLIP-seq
MIRT1497868	hsa-miR-487a	CLIP-seq
MIRT1497869	hsa-miR-488	CLIP-seq
MIRT1497870	hsa-miR-491-3p	CLIP-seq
MIRT1497871	hsa-miR-495	CLIP-seq
MIRT1497872	hsa-miR-497	CLIP-seq
MIRT1497873	hsa-miR-511	CLIP-seq
MIRT1497874	hsa-miR-520a-5p	CLIP-seq
MIRT1497875	hsa-miR-520d-5p	CLIP-seq
MIRT1497876	hsa-miR-520f	CLIP-seq
MIRT1497877	hsa-miR-520g	CLIP-seq
MIRT1497878	hsa-miR-520h	CLIP-seq
MIRT1497879	hsa-miR-524-5p	CLIP-seq
MIRT1497880	hsa-miR-525-5p	CLIP-seq
MIRT1497881	hsa-miR-548ac	CLIP-seq
MIRT1497882	hsa-miR-548ae	CLIP-seq
MIRT1497883	hsa-miR-548aj	CLIP-seq
MIRT1497884	hsa-miR-548am	CLIP-seq
MIRT1497885	hsa-miR-548an	CLIP-seq
MIRT1497886	hsa-miR-548d-3p	CLIP-seq
MIRT1497887	hsa-miR-548x	CLIP-seq
MIRT1497888	hsa-miR-548z	CLIP-seq
MIRT1497889	hsa-miR-580	CLIP-seq
MIRT1497890	hsa-miR-582-5p	CLIP-seq
MIRT1497891	hsa-miR-586	CLIP-seq
MIRT1497892	hsa-miR-589	CLIP-seq
MIRT1497893	hsa-miR-604	CLIP-seq
MIRT1497894	hsa-miR-647	CLIP-seq
MIRT1497895	hsa-miR-656	CLIP-seq
MIRT1497896	hsa-miR-761	CLIP-seq
MIRT1497897	hsa-miR-766	CLIP-seq
MIRT1497898	hsa-miR-767-3p	CLIP-seq
MIRT1497899	hsa-miR-885-5p	CLIP-seq
MIRT1497900	hsa-miR-9	CLIP-seq
MIRT1497901	hsa-miR-922	CLIP-seq
MIRT1497902	hsa-miR-96	CLIP-seq
MIRT1497903	hsa-miR-98	CLIP-seq
MIRT1555632	hsa-miR-1184	CLIP-seq
MIRT1555633	hsa-miR-1205	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT1497784	hsa-miR-3064-3p	CLIP-seq
MIRT1555637	hsa-miR-3158-5p	CLIP-seq
MIRT1555638	hsa-miR-3616-5p	CLIP-seq
MIRT1555639	hsa-miR-3647-5p	CLIP-seq
MIRT1555640	hsa-miR-3665	CLIP-seq
MIRT1555641	hsa-miR-3942-3p	CLIP-seq
MIRT1555642	hsa-miR-4252	CLIP-seq
MIRT1555643	hsa-miR-4635	CLIP-seq
MIRT1555644	hsa-miR-4715-3p	CLIP-seq
MIRT1497870	hsa-miR-491-3p	CLIP-seq
MIRT1555645	hsa-miR-501-3p	CLIP-seq
MIRT1555646	hsa-miR-502-3p	CLIP-seq
MIRT1555647	hsa-miR-573	CLIP-seq
MIRT1555648	hsa-miR-657	CLIP-seq
MIRT2149932	hsa-miR-1178	CLIP-seq
MIRT1555632	hsa-miR-1184	CLIP-seq
MIRT2149933	hsa-miR-1204	CLIP-seq
MIRT2149934	hsa-miR-1207-5p	CLIP-seq
MIRT2149935	hsa-miR-124	CLIP-seq
MIRT2149936	hsa-miR-1270	CLIP-seq
MIRT2149937	hsa-miR-1273g	CLIP-seq
MIRT2149938	hsa-miR-129-5p	CLIP-seq
MIRT2149939	hsa-miR-1302	CLIP-seq
MIRT2149940	hsa-miR-138	CLIP-seq
MIRT2149941	hsa-miR-1827	CLIP-seq
MIRT1497773	hsa-miR-1915	CLIP-seq
MIRT1497775	hsa-miR-199a-5p	CLIP-seq
MIRT1497776	hsa-miR-199b-5p	CLIP-seq
MIRT2149942	hsa-miR-204	CLIP-seq
MIRT2149943	hsa-miR-211	CLIP-seq
MIRT1497780	hsa-miR-214	CLIP-seq
MIRT2149944	hsa-miR-224	CLIP-seq
MIRT1497781	hsa-miR-2278	CLIP-seq
MIRT2149945	hsa-miR-24	CLIP-seq
MIRT2149946	hsa-miR-2964a-3p	CLIP-seq
MIRT2149947	hsa-miR-298	CLIP-seq
MIRT2149948	hsa-miR-299-3p	CLIP-seq
MIRT2149949	hsa-miR-302f	CLIP-seq
MIRT2149950	hsa-miR-3065-3p	CLIP-seq
MIRT2149951	hsa-miR-31	CLIP-seq
MIRT2149952	hsa-miR-3117-5p	CLIP-seq
MIRT2149953	hsa-miR-3144-5p	CLIP-seq
MIRT2149954	hsa-miR-3148	CLIP-seq
MIRT1497792	hsa-miR-3153	CLIP-seq
MIRT1497795	hsa-miR-3166	CLIP-seq
MIRT2149955	hsa-miR-3173-3p	CLIP-seq
MIRT2149956	hsa-miR-3189-3p	CLIP-seq
MIRT2149957	hsa-miR-3202	CLIP-seq
MIRT2149958	hsa-miR-330-3p	CLIP-seq
MIRT2149959	hsa-miR-34a	CLIP-seq
MIRT2149960	hsa-miR-34c-5p	CLIP-seq
MIRT2149961	hsa-miR-361-3p	CLIP-seq
MIRT1497806	hsa-miR-3619-5p	CLIP-seq
MIRT2149962	hsa-miR-3646	CLIP-seq
MIRT2149963	hsa-miR-3649	CLIP-seq
MIRT2149964	hsa-miR-3652	CLIP-seq
MIRT2149965	hsa-miR-3688-5p	CLIP-seq
MIRT2149966	hsa-miR-3689a-3p	CLIP-seq
MIRT2149967	hsa-miR-3689c	CLIP-seq
MIRT2149968	hsa-miR-3907	CLIP-seq
MIRT2149969	hsa-miR-3940-5p	CLIP-seq
MIRT2149970	hsa-miR-425	CLIP-seq
MIRT2149971	hsa-miR-4276	CLIP-seq
MIRT2149972	hsa-miR-4283	CLIP-seq
MIRT2149973	hsa-miR-4286	CLIP-seq
MIRT1497823	hsa-miR-4291	CLIP-seq
MIRT2149974	hsa-miR-4298	CLIP-seq
MIRT2149975	hsa-miR-4426	CLIP-seq
MIRT2149976	hsa-miR-4430	CLIP-seq
MIRT2149977	hsa-miR-4436b-3p	CLIP-seq
MIRT2149978	hsa-miR-4436b-5p	CLIP-seq
MIRT2149979	hsa-miR-4446-3p	CLIP-seq
MIRT2149980	hsa-miR-4490	CLIP-seq
MIRT2149981	hsa-miR-4491	CLIP-seq
MIRT2149982	hsa-miR-4492	CLIP-seq
MIRT2149983	hsa-miR-4496	CLIP-seq
MIRT2149984	hsa-miR-4498	CLIP-seq
MIRT2149985	hsa-miR-449a	CLIP-seq
MIRT2149986	hsa-miR-449b	CLIP-seq
MIRT2149987	hsa-miR-4507	CLIP-seq
MIRT2149988	hsa-miR-452	CLIP-seq
MIRT1497838	hsa-miR-4520a-3p	CLIP-seq
MIRT1497839	hsa-miR-4520b-3p	CLIP-seq
MIRT1497840	hsa-miR-4529-3p	CLIP-seq
MIRT2149989	hsa-miR-4531	CLIP-seq
MIRT2149990	hsa-miR-4533	CLIP-seq
MIRT2149991	hsa-miR-4646-5p	CLIP-seq
MIRT2149992	hsa-miR-4647	CLIP-seq
MIRT1497843	hsa-miR-4649-3p	CLIP-seq
MIRT2149993	hsa-miR-4651	CLIP-seq
MIRT2149994	hsa-miR-4657	CLIP-seq
MIRT2149995	hsa-miR-4662b	CLIP-seq
MIRT2149996	hsa-miR-4668-5p	CLIP-seq
MIRT2149997	hsa-miR-4676-3p	CLIP-seq
MIRT2149998	hsa-miR-4676-5p	CLIP-seq
MIRT2149999	hsa-miR-4685-5p	CLIP-seq
MIRT1497856	hsa-miR-4726-3p	CLIP-seq
MIRT2150000	hsa-miR-4727-5p	CLIP-seq
MIRT2150001	hsa-miR-4728-5p	CLIP-seq
MIRT1497857	hsa-miR-4733-3p	CLIP-seq
MIRT2150002	hsa-miR-4746-5p	CLIP-seq
MIRT2150003	hsa-miR-4747-5p	CLIP-seq
MIRT2150004	hsa-miR-4755-5p	CLIP-seq
MIRT2150005	hsa-miR-4763-3p	CLIP-seq
MIRT2150006	hsa-miR-4769-3p	CLIP-seq
MIRT2150007	hsa-miR-4774-5p	CLIP-seq
MIRT2150008	hsa-miR-4779	CLIP-seq
MIRT2150009	hsa-miR-4786-5p	CLIP-seq
MIRT1497868	hsa-miR-487a	CLIP-seq
MIRT2150010	hsa-miR-506	CLIP-seq
MIRT2150011	hsa-miR-508-5p	CLIP-seq
MIRT2150012	hsa-miR-548ag	CLIP-seq
MIRT2150013	hsa-miR-548ai	CLIP-seq
MIRT2150014	hsa-miR-548q	CLIP-seq
MIRT2150015	hsa-miR-549	CLIP-seq
MIRT2150016	hsa-miR-570	CLIP-seq
MIRT2150017	hsa-miR-575	CLIP-seq
MIRT2150018	hsa-miR-587	CLIP-seq
MIRT2150019	hsa-miR-602	CLIP-seq
MIRT2150020	hsa-miR-608	CLIP-seq
MIRT2150021	hsa-miR-620	CLIP-seq
MIRT2150022	hsa-miR-623	CLIP-seq
MIRT2150023	hsa-miR-629	CLIP-seq
MIRT2150024	hsa-miR-635	CLIP-seq
MIRT2150025	hsa-miR-7	CLIP-seq
MIRT2150026	hsa-miR-758	CLIP-seq
MIRT1497896	hsa-miR-761	CLIP-seq
MIRT2150027	hsa-miR-762	CLIP-seq
MIRT2150028	hsa-miR-769-5p	CLIP-seq
MIRT2150029	hsa-miR-888	CLIP-seq
MIRT1497901	hsa-miR-922	CLIP-seq
MIRT2370069	hsa-miR-101	CLIP-seq
MIRT2149932	hsa-miR-1178	CLIP-seq
MIRT1555632	hsa-miR-1184	CLIP-seq
MIRT2370070	hsa-miR-1200	CLIP-seq
MIRT1555633	hsa-miR-1205	CLIP-seq
MIRT2370071	hsa-miR-1238	CLIP-seq
MIRT2149936	hsa-miR-1270	CLIP-seq
MIRT2370072	hsa-miR-140-3p	CLIP-seq
MIRT2370073	hsa-miR-144	CLIP-seq
MIRT1497782	hsa-miR-2392	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT2149945	hsa-miR-24	CLIP-seq
MIRT2370074	hsa-miR-2467-5p	CLIP-seq
MIRT2149946	hsa-miR-2964a-3p	CLIP-seq
MIRT2149949	hsa-miR-302f	CLIP-seq
MIRT2149950	hsa-miR-3065-3p	CLIP-seq
MIRT2370075	hsa-miR-3119	CLIP-seq
MIRT2149953	hsa-miR-3144-5p	CLIP-seq
MIRT1555637	hsa-miR-3158-5p	CLIP-seq
MIRT2370076	hsa-miR-3180-5p	CLIP-seq
MIRT2149956	hsa-miR-3189-3p	CLIP-seq
MIRT2370077	hsa-miR-323b-3p	CLIP-seq
MIRT2370078	hsa-miR-3614-3p	CLIP-seq
MIRT1555638	hsa-miR-3616-5p	CLIP-seq
MIRT1555639	hsa-miR-3647-5p	CLIP-seq
MIRT2149963	hsa-miR-3649	CLIP-seq
MIRT2370079	hsa-miR-3664-3p	CLIP-seq
MIRT1555640	hsa-miR-3665	CLIP-seq
MIRT2370080	hsa-miR-3667-3p	CLIP-seq
MIRT2370081	hsa-miR-3667-5p	CLIP-seq
MIRT2149966	hsa-miR-3689a-3p	CLIP-seq
MIRT2149967	hsa-miR-3689c	CLIP-seq
MIRT1497815	hsa-miR-3921	CLIP-seq
MIRT2149970	hsa-miR-425	CLIP-seq
MIRT2370082	hsa-miR-4297	CLIP-seq
MIRT2370083	hsa-miR-432	CLIP-seq
MIRT2370084	hsa-miR-4324	CLIP-seq
MIRT2370085	hsa-miR-4514	CLIP-seq
MIRT2149989	hsa-miR-4531	CLIP-seq
MIRT2149990	hsa-miR-4533	CLIP-seq
MIRT1555643	hsa-miR-4635	CLIP-seq
MIRT1497846	hsa-miR-4653-5p	CLIP-seq
MIRT2370086	hsa-miR-4682	CLIP-seq
MIRT2149999	hsa-miR-4685-5p	CLIP-seq
MIRT2370087	hsa-miR-4692	CLIP-seq
MIRT2150001	hsa-miR-4728-5p	CLIP-seq
MIRT2150003	hsa-miR-4747-5p	CLIP-seq
MIRT2370088	hsa-miR-544b	CLIP-seq
MIRT2150016	hsa-miR-570	CLIP-seq
MIRT1555647	hsa-miR-573	CLIP-seq
MIRT2150019	hsa-miR-602	CLIP-seq
MIRT2370089	hsa-miR-603	CLIP-seq
MIRT2150021	hsa-miR-620	CLIP-seq
MIRT1555648	hsa-miR-657	CLIP-seq
MIRT2370090	hsa-miR-873	CLIP-seq
MIRT2370091	hsa-miR-942	CLIP-seq
MIRT2370069	hsa-miR-101	CLIP-seq
MIRT2370073	hsa-miR-144	CLIP-seq
MIRT2397112	hsa-miR-3177-5p	CLIP-seq
MIRT2149959	hsa-miR-34a	CLIP-seq
MIRT2149960	hsa-miR-34c-5p	CLIP-seq
MIRT2397113	hsa-miR-4459	CLIP-seq
MIRT2149985	hsa-miR-449a	CLIP-seq
MIRT2149986	hsa-miR-449b	CLIP-seq
MIRT2663881	hsa-miR-1179	CLIP-seq
MIRT2663882	hsa-miR-1245b-3p	CLIP-seq
MIRT2149938	hsa-miR-129-5p	CLIP-seq
MIRT2149940	hsa-miR-138	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT2663883	hsa-miR-320e	CLIP-seq
MIRT2149968	hsa-miR-3907	CLIP-seq
MIRT1555641	hsa-miR-3942-3p	CLIP-seq
MIRT2149971	hsa-miR-4276	CLIP-seq
MIRT2663884	hsa-miR-4422	CLIP-seq
MIRT2149988	hsa-miR-452	CLIP-seq
MIRT2149997	hsa-miR-4676-3p	CLIP-seq
MIRT2663885	hsa-miR-4777-3p	CLIP-seq
MIRT2663886	hsa-miR-503	CLIP-seq
MIRT2663887	hsa-miR-509-3p	CLIP-seq
MIRT2663888	hsa-miR-518a-5p	CLIP-seq
MIRT2663889	hsa-miR-527	CLIP-seq
MIRT2150014	hsa-miR-548q	CLIP-seq
MIRT2663881	hsa-miR-1179	CLIP-seq
MIRT2695401	hsa-miR-1228	CLIP-seq
MIRT2663882	hsa-miR-1245b-3p	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT2695402	hsa-miR-3146	CLIP-seq
MIRT1555641	hsa-miR-3942-3p	CLIP-seq
MIRT2663884	hsa-miR-4422	CLIP-seq
MIRT2663885	hsa-miR-4777-3p	CLIP-seq
MIRT2663887	hsa-miR-509-3p	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000137	Component	Golgi cis cisterna	ISS
GO:0000139	Component	Golgi membrane	IDA	16571645
GO:0000139	Component	Golgi membrane	TAS
GO:0005615	Component	Extracellular space	IDA	11087729
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS	11099377
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IBA	21873635
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	17189265
GO:0016021	Component	Integral component of membrane	IEA
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030158	Function	Protein xylosyltransferase activity	IBA	21873635
GO:0030158	Function	Protein xylosyltransferase activity	IDA	11087729, 17189265, 29681470
GO:0030158	Function	Protein xylosyltransferase activity	TAS	11099377
GO:0030166	Process	Proteoglycan biosynthetic process	IDA	11087729
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0030206	Process	Chondroitin sulfate biosynthetic process	IEA
GO:0043931	Process	Ossification involved in bone maturation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048706	Process	Embryonic skeletal system development	ISS
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA	21873635
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IMP	17189265

MIM	HGNC	e!Ensembl
608124	15516	ENSG00000103489

Protein

UniProt ID

Q86Y38

Protein name

Xylosyltransferase 1 (EC 2.4.2.26) (Peptide O-xylosyltransferase 1) (Xylosyltransferase I) (XT-I) (XylT-I)

Protein function

Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:2

PDB

6EJ7 , 6EJ8 , 6EJ9 , 6EJA , 6EJB , 6EJC , 6EJD , 6EJE , 6FOA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02485	Branch	328 → 583	Core-2/I-Branching enzyme	Family
PF12529	Xylo_C	613 → 793	Xylosyltransferase C terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle. {ECO:0000269|PubMed:11099377}.

Sequence

MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPA
PAPRRERRDLPAEPAAARGGGGGGGGGGGGRGPQARARGGGPGEPRGQQPASRGALPARA
LDPHPSPLITLETQDGYFSHRPKEKVRTDSNNENSVPKDFENVDNSNFAPRTQKQKHQPE
LAKKPPSRQKELLKRKLEQQEKGKGHTFPGKGPGEVLPPGDRAAANSSHGKDVSRPPHAR
KTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEIGETYCRHKLGLLMPEKVTRF
CPLEGKANKNVQWDEDSVEYMPANPVRIAFVLVVHGRASRQLQRMFKAIYHKDHFYYIHV
DKRSNYLHRQVLQVSRQYSNVRVTPWRMATIWGGASLLSTYLQSMRDLLEMTDWPWDFFI
NLSAADYPIRTNDQLVAFLSRYRDMNFLKSHGRDNARFIRKQGLDRLFLECDAHMWRLGD
RRIPEGIAVDGGSDWFLLNRRFVEYVTFSTDDLVTKMKQFYSYTLLPAESFFHTVLENSP
HCDTMVDNNLRITNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFHRFQQTARPTFFARKF
EAVVNQEIIGQLDYYLYGNYPAGTPGLRSYWENVYDEPDGIHSLSDVTLTLYHSFARLGL
RRAETSLHTDGENSCRYYPMGHPASVHLYFLADRFQGFLIKHHATNLAVSKLETLETWVM
PKKVFKIASPPSDFGRLQFSEVGTDWDAKERLFRNFGGLLGPMDEPVGMQKWGKGPNVTV
TVIWVDPVNVIAATYDILIESTAEFTHYKPPLNLPLRPGVWTVKILHHWVPVAETKFLVA
PLTFSNRQPIKPEEALKLHNGPLRNAYMEQSFQSLNPVLSLPINPAQVEQARRNAASTGT
ALEGWLDSLVGGMWTAMDICATGPTACPVMQTCSQTAWSSFSPDPKSELGAVKPDGRLR

Sequence length

959

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways		A tetrasaccharide linker sequence is required for GAG synthesis

Show/Hide Causal Diseases (21)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital disorder of glycosylation	XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation, XYLT1-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)	23982343
Desbuquois dysplasia	DESBUQUOIS DYSPLASIA 2	rs587776509, rs267606701, rs267606699, rs587776510, rs267606700, rs587776895, rs587776896, rs587776897, rs150181226, rs587776898, rs377546036, rs387907081, rs587776951, rs587777366, rs587777368 View all (10 more)	24581741, 28462984, 30554721, 23982343
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	30054458
Duchenne muscular dystrophy	Muscular Dystrophy, Duchenne	rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788 View all (641 more)	30014611
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819 View all (18 more)
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152 View all (20 more)
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Pseudoxanthoma elasticum	Pseudoxanthoma Elasticum, Gronblad-Strandberg Syndrome, Pseudoxanthoma Elasticum, Incomplete	rs72653706, rs72664209, rs60791294, rs63750427, rs72664233, rs63750759, rs387906352, rs63750459, rs28939701, rs72653744, rs63750273, rs28939702, rs63751325, rs63749856, rs63749823 View all (166 more)	16571645
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Renal insufficiency	Renal Insufficiency	rs1596536873
Restrictive cardiomyopathy	Restrictive cardiomyopathy	rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (10)

Disease term	Disease name	References	Source
Unknown
Congestive heart failure	Congestive heart failure		ClinVar
Desbuquois syndrome	Desbuquois syndrome	24581741	ClinVar
Desbuquois Dysplasia	Desbuquois dysplasia		GenCC
Erectile Dysfunction	Erectile Dysfunction		GWAS
Diabetes	Diabetes		GWAS
Tourette Syndrome	Tourette Syndrome		GWAS
Psoriasis	Psoriasis		GWAS
Oligodendroglioma	Oligodendroglioma		GWAS
Sarcoidosis	Sarcoidosis		GWAS
Dyslexia	Dyslexia		GWAS

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining
Alcohol Related Disorders	Associate	35081921
Blood Coagulation Disorders	Associate	35005846
Blood Platelet Disorders	Associate	35005846
Cardiomyopathy Dilated	Stimulate	17635914
Cardiomyopathy Dilated	Associate	19762916
Cartilage Diseases	Associate	22479506
Chondrosarcoma	Associate	19762916
Chronic Disease	Associate	27773939
Desbuquois syndrome	Associate	24581741, 30554721, 35081921, 37296099
Diabetes Mellitus Type 1	Associate	16164625
Diabetic Nephropathies	Associate	16164625
Fibrosis	Associate	17635914, 19762916
Growth Disorders	Associate	37296099
Heart Diseases	Associate	35005846
Hypertrophy	Associate	37296099
Liver Cirrhosis	Associate	36871637
Mucopolysaccharidoses	Associate	19690584
Obesity	Associate	27773939
Osteoarthritis	Associate	16376579, 22479506
Pseudoxanthoma Elasticum	Associate	16571645
Scleroderma Systemic	Associate	19762916
Spondyloepiphyseal dysplasia Omani type	Associate	24581741

XYLT1 (xylosyltransferase 1)