PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma)

Gene

• Entrez ID: 23396
• Gene name: Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
• Gene symbol: PIP5K1C
• Synonyms (NCBI Gene): LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908315	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027379	hsa-miR-101-3p	Sequencing	20371350
MIRT028353	hsa-miR-32-5p	Sequencing	20371350
MIRT030015	hsa-miR-26b-5p	Microarray	19088304
MIRT041364	hsa-miR-193b-3p	CLASH	23622248
MIRT723217	hsa-miR-1197	HITS-CLIP	19536157
MIRT723216	hsa-miR-4436a	HITS-CLIP	19536157
MIRT723215	hsa-miR-5000-3p	HITS-CLIP	19536157
MIRT723214	hsa-miR-3664-3p	HITS-CLIP	19536157
MIRT723213	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT723212	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT723211	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT723210	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT723209	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT555600	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT555599	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028353	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT555598	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT555597	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT555596	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT555595	hsa-miR-496	PAR-CLIP	21572407
MIRT555594	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT555593	hsa-miR-4787-5p	PAR-CLIP	21572407
MIRT555592	hsa-miR-1199-5p	PAR-CLIP	21572407
MIRT555591	hsa-miR-6751-3p	PAR-CLIP	21572407
MIRT555590	hsa-miR-5705	PAR-CLIP	21572407
MIRT555589	hsa-miR-6727-5p	PAR-CLIP	21572407
MIRT555588	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT555587	hsa-miR-7703	PAR-CLIP	21572407
MIRT555586	hsa-miR-4325	PAR-CLIP	21572407
MIRT555600	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT555596	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028353	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT723217	hsa-miR-1197	HITS-CLIP	19536157
MIRT723216	hsa-miR-4436a	HITS-CLIP	19536157
MIRT723215	hsa-miR-5000-3p	HITS-CLIP	19536157
MIRT723214	hsa-miR-3664-3p	HITS-CLIP	19536157
MIRT723213	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT723212	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT723211	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT723210	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT723209	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT555600	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT555599	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028353	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT555598	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT555597	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT555596	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT555595	hsa-miR-496	PAR-CLIP	21572407
MIRT555594	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT555593	hsa-miR-4787-5p	PAR-CLIP	21572407
MIRT555592	hsa-miR-1199-5p	PAR-CLIP	21572407
MIRT555591	hsa-miR-6751-3p	PAR-CLIP	21572407
MIRT555590	hsa-miR-5705	PAR-CLIP	21572407
MIRT555589	hsa-miR-6727-5p	PAR-CLIP	21572407
MIRT555588	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT555587	hsa-miR-7703	PAR-CLIP	21572407
MIRT555586	hsa-miR-4325	PAR-CLIP	21572407
MIRT755990	hsa-miR-4649-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37803350
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1235907	hsa-miR-1207-5p	CLIP-seq
MIRT1235908	hsa-miR-122	CLIP-seq
MIRT1235909	hsa-miR-1252	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235911	hsa-miR-1260	CLIP-seq
MIRT1235912	hsa-miR-1260b	CLIP-seq
MIRT1235913	hsa-miR-1275	CLIP-seq
MIRT1235914	hsa-miR-1292	CLIP-seq
MIRT1235915	hsa-miR-1321	CLIP-seq
MIRT1235916	hsa-miR-143	CLIP-seq
MIRT1235917	hsa-miR-144	CLIP-seq
MIRT1235918	hsa-miR-188-3p	CLIP-seq
MIRT1235919	hsa-miR-208a	CLIP-seq
MIRT1235920	hsa-miR-208b	CLIP-seq
MIRT1235921	hsa-miR-25	CLIP-seq
MIRT1235922	hsa-miR-2681	CLIP-seq
MIRT1235923	hsa-miR-3150b-3p	CLIP-seq
MIRT1235924	hsa-miR-3156-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1235926	hsa-miR-32	CLIP-seq
MIRT1235927	hsa-miR-324-5p	CLIP-seq
MIRT1235928	hsa-miR-3617	CLIP-seq
MIRT1235929	hsa-miR-363	CLIP-seq
MIRT1235930	hsa-miR-3663-3p	CLIP-seq
MIRT1235931	hsa-miR-367	CLIP-seq
MIRT1235932	hsa-miR-3689d	CLIP-seq
MIRT1235933	hsa-miR-3913-3p	CLIP-seq
MIRT1235934	hsa-miR-3921	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1235937	hsa-miR-4270	CLIP-seq
MIRT1235938	hsa-miR-4278	CLIP-seq
MIRT1235939	hsa-miR-4292	CLIP-seq
MIRT1235940	hsa-miR-4303	CLIP-seq
MIRT1235941	hsa-miR-4308	CLIP-seq
MIRT1235942	hsa-miR-4424	CLIP-seq
MIRT1235943	hsa-miR-4441	CLIP-seq
MIRT1235944	hsa-miR-4446-3p	CLIP-seq
MIRT1235945	hsa-miR-4447	CLIP-seq
MIRT1235946	hsa-miR-4450	CLIP-seq
MIRT1235947	hsa-miR-4464	CLIP-seq
MIRT1235948	hsa-miR-4472	CLIP-seq
MIRT1235949	hsa-miR-4474-5p	CLIP-seq
MIRT1235950	hsa-miR-4520a-3p	CLIP-seq
MIRT1235951	hsa-miR-4520b-3p	CLIP-seq
MIRT1235952	hsa-miR-4525	CLIP-seq
MIRT1235953	hsa-miR-4529-3p	CLIP-seq
MIRT1235954	hsa-miR-4642	CLIP-seq
MIRT1235955	hsa-miR-4645-3p	CLIP-seq
MIRT1235956	hsa-miR-4653-3p	CLIP-seq
MIRT1235957	hsa-miR-4653-5p	CLIP-seq
MIRT1235958	hsa-miR-4665-5p	CLIP-seq
MIRT1235959	hsa-miR-4675	CLIP-seq
MIRT1235960	hsa-miR-4678	CLIP-seq
MIRT1235961	hsa-miR-4689	CLIP-seq
MIRT1235962	hsa-miR-4699-3p	CLIP-seq
MIRT1235963	hsa-miR-4700-3p	CLIP-seq
MIRT1235964	hsa-miR-4716-3p	CLIP-seq
MIRT1235965	hsa-miR-4723-5p	CLIP-seq
MIRT1235966	hsa-miR-4736	CLIP-seq
MIRT1235967	hsa-miR-4739	CLIP-seq
MIRT1235968	hsa-miR-4741	CLIP-seq
MIRT1235969	hsa-miR-4748	CLIP-seq
MIRT1235970	hsa-miR-4751	CLIP-seq
MIRT1235971	hsa-miR-4756-5p	CLIP-seq
MIRT1235972	hsa-miR-4763-3p	CLIP-seq
MIRT1235973	hsa-miR-4770	CLIP-seq
MIRT1235974	hsa-miR-4784	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT1235976	hsa-miR-499-3p	CLIP-seq
MIRT1235977	hsa-miR-499-5p	CLIP-seq
MIRT1235978	hsa-miR-499a-3p	CLIP-seq
MIRT1235979	hsa-miR-499a-5p	CLIP-seq
MIRT1235980	hsa-miR-566	CLIP-seq
MIRT1235981	hsa-miR-579	CLIP-seq
MIRT1235982	hsa-miR-582-5p	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT1235984	hsa-miR-637	CLIP-seq
MIRT1235985	hsa-miR-641	CLIP-seq
MIRT1235986	hsa-miR-7	CLIP-seq
MIRT1235987	hsa-miR-765	CLIP-seq
MIRT1235988	hsa-miR-92a	CLIP-seq
MIRT1235989	hsa-miR-92b	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1235908	hsa-miR-122	CLIP-seq
MIRT1235990	hsa-miR-1228	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235914	hsa-miR-1292	CLIP-seq
MIRT1235991	hsa-miR-1301	CLIP-seq
MIRT1235916	hsa-miR-143	CLIP-seq
MIRT1235917	hsa-miR-144	CLIP-seq
MIRT1235992	hsa-miR-185	CLIP-seq
MIRT1235993	hsa-miR-18a	CLIP-seq
MIRT1235994	hsa-miR-18b	CLIP-seq
MIRT1235995	hsa-miR-1909	CLIP-seq
MIRT1235996	hsa-miR-2110	CLIP-seq
MIRT1235997	hsa-miR-2115	CLIP-seq
MIRT1235998	hsa-miR-214	CLIP-seq
MIRT1235999	hsa-miR-219-5p	CLIP-seq
MIRT1235921	hsa-miR-25	CLIP-seq
MIRT1236000	hsa-miR-3125	CLIP-seq
MIRT1236001	hsa-miR-3138	CLIP-seq
MIRT1236002	hsa-miR-3144-5p	CLIP-seq
MIRT1236003	hsa-miR-3150a-3p	CLIP-seq
MIRT1235923	hsa-miR-3150b-3p	CLIP-seq
MIRT1236004	hsa-miR-3155	CLIP-seq
MIRT1236005	hsa-miR-3155b	CLIP-seq
MIRT1236006	hsa-miR-3180	CLIP-seq
MIRT1236007	hsa-miR-3180-3p	CLIP-seq
MIRT1236008	hsa-miR-3187-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1236009	hsa-miR-3194-3p	CLIP-seq
MIRT1236010	hsa-miR-3196	CLIP-seq
MIRT1236011	hsa-miR-3199	CLIP-seq
MIRT1235926	hsa-miR-32	CLIP-seq
MIRT1236012	hsa-miR-3619-5p	CLIP-seq
MIRT1235929	hsa-miR-363	CLIP-seq
MIRT1235931	hsa-miR-367	CLIP-seq
MIRT1236013	hsa-miR-370	CLIP-seq
MIRT1236014	hsa-miR-3916	CLIP-seq
MIRT1236015	hsa-miR-3940-5p	CLIP-seq
MIRT1236016	hsa-miR-3942-3p	CLIP-seq
MIRT1236017	hsa-miR-3944-5p	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1236018	hsa-miR-4257	CLIP-seq
MIRT1236019	hsa-miR-4264	CLIP-seq
MIRT1236020	hsa-miR-4267	CLIP-seq
MIRT1236021	hsa-miR-4271	CLIP-seq
MIRT1236022	hsa-miR-4306	CLIP-seq
MIRT1236023	hsa-miR-4328	CLIP-seq
MIRT1236024	hsa-miR-4435	CLIP-seq
MIRT1236025	hsa-miR-4436b-5p	CLIP-seq
MIRT1236026	hsa-miR-4459	CLIP-seq
MIRT1235949	hsa-miR-4474-5p	CLIP-seq
MIRT1236027	hsa-miR-4507	CLIP-seq
MIRT1236028	hsa-miR-4515	CLIP-seq
MIRT1235950	hsa-miR-4520a-3p	CLIP-seq
MIRT1235951	hsa-miR-4520b-3p	CLIP-seq
MIRT1235953	hsa-miR-4529-3p	CLIP-seq
MIRT1236029	hsa-miR-4529-5p	CLIP-seq
MIRT1235954	hsa-miR-4642	CLIP-seq
MIRT1236030	hsa-miR-4644	CLIP-seq
MIRT1236031	hsa-miR-4652-5p	CLIP-seq
MIRT1236032	hsa-miR-4660	CLIP-seq
MIRT1235961	hsa-miR-4689	CLIP-seq
MIRT1235963	hsa-miR-4700-3p	CLIP-seq
MIRT1236033	hsa-miR-4701-5p	CLIP-seq
MIRT1236034	hsa-miR-4725-3p	CLIP-seq
MIRT1236035	hsa-miR-4727-5p	CLIP-seq
MIRT1236036	hsa-miR-4733-3p	CLIP-seq
MIRT1236037	hsa-miR-4735-3p	CLIP-seq
MIRT1236038	hsa-miR-4755-3p	CLIP-seq
MIRT1236039	hsa-miR-4769-3p	CLIP-seq
MIRT1235973	hsa-miR-4770	CLIP-seq
MIRT1236040	hsa-miR-4779	CLIP-seq
MIRT1236041	hsa-miR-4782-3p	CLIP-seq
MIRT1235974	hsa-miR-4784	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT1236042	hsa-miR-4797-3p	CLIP-seq
MIRT1236043	hsa-miR-484	CLIP-seq
MIRT1236044	hsa-miR-5047	CLIP-seq
MIRT1236045	hsa-miR-508-5p	CLIP-seq
MIRT1236046	hsa-miR-515-5p	CLIP-seq
MIRT1236047	hsa-miR-516b	CLIP-seq
MIRT1236048	hsa-miR-548c-3p	CLIP-seq
MIRT1236049	hsa-miR-548s	CLIP-seq
MIRT1235982	hsa-miR-582-5p	CLIP-seq
MIRT1236050	hsa-miR-588	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT1236051	hsa-miR-658	CLIP-seq
MIRT1236052	hsa-miR-662	CLIP-seq
MIRT1236053	hsa-miR-665	CLIP-seq
MIRT1235986	hsa-miR-7	CLIP-seq
MIRT1236054	hsa-miR-760	CLIP-seq
MIRT1236055	hsa-miR-761	CLIP-seq
MIRT1236056	hsa-miR-766	CLIP-seq
MIRT1235988	hsa-miR-92a	CLIP-seq
MIRT1235989	hsa-miR-92b	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1235960	hsa-miR-4678	CLIP-seq
MIRT1235962	hsa-miR-4699-3p	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1236040	hsa-miR-4779	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1235907	hsa-miR-1207-5p	CLIP-seq
MIRT1235911	hsa-miR-1260	CLIP-seq
MIRT1235912	hsa-miR-1260b	CLIP-seq
MIRT1235913	hsa-miR-1275	CLIP-seq
MIRT2069433	hsa-miR-1343	CLIP-seq
MIRT1235918	hsa-miR-188-3p	CLIP-seq
MIRT2069434	hsa-miR-1908	CLIP-seq
MIRT2069435	hsa-miR-1913	CLIP-seq
MIRT2069436	hsa-miR-1976	CLIP-seq
MIRT1235998	hsa-miR-214	CLIP-seq
MIRT2069437	hsa-miR-3124-5p	CLIP-seq
MIRT1236002	hsa-miR-3144-5p	CLIP-seq
MIRT1235924	hsa-miR-3156-3p	CLIP-seq
MIRT1236008	hsa-miR-3187-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1236011	hsa-miR-3199	CLIP-seq
MIRT2069438	hsa-miR-3200-5p	CLIP-seq
MIRT2069439	hsa-miR-324-3p	CLIP-seq
MIRT2069440	hsa-miR-338-3p	CLIP-seq
MIRT2069441	hsa-miR-342-5p	CLIP-seq
MIRT2069442	hsa-miR-3616-3p	CLIP-seq
MIRT1236012	hsa-miR-3619-5p	CLIP-seq
MIRT1235932	hsa-miR-3689d	CLIP-seq
MIRT1236016	hsa-miR-3942-3p	CLIP-seq
MIRT2069443	hsa-miR-431	CLIP-seq
MIRT2069444	hsa-miR-4313	CLIP-seq
MIRT1236023	hsa-miR-4328	CLIP-seq
MIRT1236024	hsa-miR-4435	CLIP-seq
MIRT1235944	hsa-miR-4446-3p	CLIP-seq
MIRT2069445	hsa-miR-4455	CLIP-seq
MIRT2069446	hsa-miR-4469	CLIP-seq
MIRT1235952	hsa-miR-4525	CLIP-seq
MIRT1236029	hsa-miR-4529-5p	CLIP-seq
MIRT2069447	hsa-miR-4530	CLIP-seq
MIRT1235955	hsa-miR-4645-3p	CLIP-seq
MIRT755990	hsa-miR-4649-5p	CLIP-seq
MIRT2069448	hsa-miR-4651	CLIP-seq
MIRT1236031	hsa-miR-4652-5p	CLIP-seq
MIRT2069449	hsa-miR-4655-3p	CLIP-seq
MIRT2069450	hsa-miR-4664-5p	CLIP-seq
MIRT1235958	hsa-miR-4665-5p	CLIP-seq
MIRT1235959	hsa-miR-4675	CLIP-seq
MIRT2069451	hsa-miR-4697-3p	CLIP-seq
MIRT1236033	hsa-miR-4701-5p	CLIP-seq
MIRT2069452	hsa-miR-4721	CLIP-seq
MIRT2069453	hsa-miR-4722-3p	CLIP-seq
MIRT1235965	hsa-miR-4723-5p	CLIP-seq
MIRT1235966	hsa-miR-4736	CLIP-seq
MIRT2069454	hsa-miR-4740-5p	CLIP-seq
MIRT1235968	hsa-miR-4741	CLIP-seq
MIRT2069455	hsa-miR-4749-3p	CLIP-seq
MIRT1235972	hsa-miR-4763-3p	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT2069456	hsa-miR-486-3p	CLIP-seq
MIRT2069457	hsa-miR-491-5p	CLIP-seq
MIRT1236046	hsa-miR-515-5p	CLIP-seq
MIRT2069458	hsa-miR-541	CLIP-seq
MIRT1236049	hsa-miR-548s	CLIP-seq
MIRT1235980	hsa-miR-566	CLIP-seq
MIRT1236050	hsa-miR-588	CLIP-seq
MIRT2069459	hsa-miR-608	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT2069460	hsa-miR-644	CLIP-seq
MIRT2069461	hsa-miR-654-5p	CLIP-seq
MIRT2069462	hsa-miR-663	CLIP-seq
MIRT1236055	hsa-miR-761	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235913	hsa-miR-1275	CLIP-seq
MIRT1235916	hsa-miR-143	CLIP-seq
MIRT2069435	hsa-miR-1913	CLIP-seq
MIRT2069436	hsa-miR-1976	CLIP-seq
MIRT1235996	hsa-miR-2110	CLIP-seq
MIRT2296792	hsa-miR-2277-3p	CLIP-seq
MIRT1235922	hsa-miR-2681	CLIP-seq
MIRT2296793	hsa-miR-3121-3p	CLIP-seq
MIRT2069437	hsa-miR-3124-5p	CLIP-seq
MIRT1236002	hsa-miR-3144-5p	CLIP-seq
MIRT1236003	hsa-miR-3150a-3p	CLIP-seq
MIRT1236008	hsa-miR-3187-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1236011	hsa-miR-3199	CLIP-seq
MIRT2069439	hsa-miR-324-3p	CLIP-seq
MIRT2069440	hsa-miR-338-3p	CLIP-seq
MIRT2296794	hsa-miR-3937	CLIP-seq
MIRT1236015	hsa-miR-3940-5p	CLIP-seq
MIRT1236016	hsa-miR-3942-3p	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1236021	hsa-miR-4271	CLIP-seq
MIRT2069443	hsa-miR-431	CLIP-seq
MIRT2069444	hsa-miR-4313	CLIP-seq
MIRT1236023	hsa-miR-4328	CLIP-seq
MIRT1236024	hsa-miR-4435	CLIP-seq
MIRT1236026	hsa-miR-4459	CLIP-seq
MIRT1235947	hsa-miR-4464	CLIP-seq
MIRT2069446	hsa-miR-4469	CLIP-seq
MIRT1235949	hsa-miR-4474-5p	CLIP-seq
MIRT1236027	hsa-miR-4507	CLIP-seq
MIRT1236028	hsa-miR-4515	CLIP-seq
MIRT1235952	hsa-miR-4525	CLIP-seq
MIRT1236029	hsa-miR-4529-5p	CLIP-seq
MIRT2069447	hsa-miR-4530	CLIP-seq
MIRT2069448	hsa-miR-4651	CLIP-seq
MIRT1236031	hsa-miR-4652-5p	CLIP-seq
MIRT2069449	hsa-miR-4655-3p	CLIP-seq
MIRT1235958	hsa-miR-4665-5p	CLIP-seq
MIRT1235960	hsa-miR-4678	CLIP-seq
MIRT2069451	hsa-miR-4697-3p	CLIP-seq
MIRT1235962	hsa-miR-4699-3p	CLIP-seq
MIRT1236033	hsa-miR-4701-5p	CLIP-seq
MIRT2069453	hsa-miR-4722-3p	CLIP-seq
MIRT1235965	hsa-miR-4723-5p	CLIP-seq
MIRT1236034	hsa-miR-4725-3p	CLIP-seq
MIRT1235969	hsa-miR-4748	CLIP-seq
MIRT2069455	hsa-miR-4749-3p	CLIP-seq
MIRT1235973	hsa-miR-4770	CLIP-seq
MIRT1236040	hsa-miR-4779	CLIP-seq
MIRT2296795	hsa-miR-4781-5p	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT1235979	hsa-miR-499a-5p	CLIP-seq
MIRT1236048	hsa-miR-548c-3p	CLIP-seq
MIRT1236049	hsa-miR-548s	CLIP-seq
MIRT1235981	hsa-miR-579	CLIP-seq
MIRT1236050	hsa-miR-588	CLIP-seq
MIRT2069459	hsa-miR-608	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT1236053	hsa-miR-665	CLIP-seq
MIRT1235908	hsa-miR-122	CLIP-seq
MIRT1236006	hsa-miR-3180	CLIP-seq
MIRT1236007	hsa-miR-3180-3p	CLIP-seq
MIRT1236010	hsa-miR-3196	CLIP-seq
MIRT1235927	hsa-miR-324-5p	CLIP-seq
MIRT1235939	hsa-miR-4292	CLIP-seq
MIRT1235941	hsa-miR-4308	CLIP-seq
MIRT1235954	hsa-miR-4642	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1236001	hsa-miR-3138	CLIP-seq
MIRT1236018	hsa-miR-4257	CLIP-seq
MIRT1236019	hsa-miR-4264	CLIP-seq
MIRT1236026	hsa-miR-4459	CLIP-seq
MIRT1235950	hsa-miR-4520a-3p	CLIP-seq
MIRT1235951	hsa-miR-4520b-3p	CLIP-seq
MIRT1235953	hsa-miR-4529-3p	CLIP-seq
MIRT1235963	hsa-miR-4700-3p	CLIP-seq
MIRT1236042	hsa-miR-4797-3p	CLIP-seq
MIRT1236052	hsa-miR-662	CLIP-seq
MIRT1236053	hsa-miR-665	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EZH2	Repression	21216957

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001931	Component	Uropod	IEA
GO:0001931	Component	Uropod	TAS	19889969
GO:0005515	Function	Protein binding	IPI	23982733, 25588945, 35044719
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	TAS	19889969
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006887	Process	Exocytosis	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	TAS	19889969
GO:0006935	Process	Chemotaxis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0010008	Component	Endosome membrane	IDA	25588945
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	19889969
GO:0016301	Function	Kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	IBA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	19889969
GO:0030593	Process	Neutrophil chemotaxis	TAS	19889969
GO:0032587	Component	Ruffle membrane	IEA
GO:0034333	Process	Adherens junction assembly	TAS	19889969
GO:0042995	Component	Cell projection	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IBA
GO:0048488	Process	Synaptic vesicle endocytosis	TAS	19889969
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS
GO:0052742	Function	Phosphatidylinositol kinase activity	IEA
GO:0052742	Function	Phosphatidylinositol kinase activity	TAS
GO:0061024	Process	Membrane organization	TAS
GO:0070161	Component	Anchoring junction	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	TAS	19889969
GO:0098609	Process	Cell-cell adhesion	TAS	19889969
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 606102
• HGNC: 8996
• e!Ensembl: ENSG00000186111

Protein

• UniProt ID: O60331
• Protein name: Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (PIP5K1gamma) (PtdIns(4)P-5-kinase 1 gamma) (EC 2.7.1.68) (Type I phosphatidylinositol 4-phosphate 5-kinase gamma)
• Protein function: Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transductio
• PDB: 2G35, 3H1Z, 3H85
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01504	PIP5K	160 → 442	Phosphatidylinositol-4-phosphate 5-Kinase	Family

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Isoform 1 is strongly expressed in brain and also detected in heart and lung. {ECO:0000269|PubMed:19548880}.; TISSUE SPECIFICITY: [Isoform 2]: Isoform 2 is strongly expressed in pancreas and liver and in lesser quantities
• Sequence:

  MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGH
  RGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGS
  NLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVT
  SDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNN
  ILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVK
  TLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMES
  IQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDG
  DTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQI
  PSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSP
  SETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEAS
  PAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPP
  ASDGESDT

• Sequence length: 668

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Endocytosis
Focal adhesion
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Yersinia infection
Choline metabolism in cancer

Reactome:

Synthesis of PIPs at the plasma membrane
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Clathrin-mediated endocytosis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Lethal congenital contracture syndrome 3	Pathogenic	rs121908315	RCV000004878	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIP5K1C-related neurodevelopmental disorder	Pathogenic	rs991616868	RCV004527278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Novel PIP5K1C-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIP5K1C-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	37010714	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	17701898	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30555634		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37010714	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	30555634		★☆☆☆☆ Found in Text Mining only
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	Lethal Congenital Contracture Syndrome	ORPHANET_DG	17701898		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	Lethal Congenital Contracture Syndrome	UNIPROT_DG	17701898		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	Lethal Congenital Contracture Syndrome	GENOMICS_ENGLAND_DG	17701898		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lethal Congenital Contractural Syndrome 3	Lethal congenital contracture syndrome	Pubtator	17701898	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	Lethal Congenital Contracture Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	Lethal Congenital Contracture Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lethal Congenital Contracture Syndrome 2	Lethal congenital contracture syndrome	Pubtator	17701898	Associate	★☆☆☆☆ Found in Text Mining only
Lethal congenital contracture syndrome type 3	Lethal Congenital Contracture Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36175877	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30555634		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	29698503		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37803350	Associate	★☆☆☆☆ Found in Text Mining only