ARFGEF1 (ARF guanine nucleotide exchange factor 1)

Gene

• Entrez ID: 10565
• Gene name: ARF guanine nucleotide exchange factor 1
• Gene symbol: ARFGEF1
• Synonyms (NCBI Gene): ARFGEP1, BIG1, DEDISB, P200
• Chromosome: 8
• Chromosome location: 8q13.2
• Summary: ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may b

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024514	hsa-miR-215-5p	Microarray	19074876
MIRT026910	hsa-miR-192-5p	Microarray	19074876
MIRT047646	hsa-miR-10a-5p	CLASH	23622248
MIRT047437	hsa-miR-10b-5p	CLASH	23622248
MIRT038638	hsa-miR-125a-3p	CLASH	23622248
MIRT037025	hsa-miR-877-3p	CLASH	23622248
MIRT442539	hsa-miR-424-3p	PAR-CLIP	22100165
MIRT442538	hsa-miR-1228-3p	PAR-CLIP	22100165
MIRT442537	hsa-miR-4722-3p	PAR-CLIP	22100165
MIRT442536	hsa-miR-6727-3p	PAR-CLIP	22100165
MIRT442535	hsa-miR-3692-3p	PAR-CLIP	22100165
MIRT402567	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT402568	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT442539	hsa-miR-424-3p	PAR-CLIP	22100165
MIRT442538	hsa-miR-1228-3p	PAR-CLIP	22100165
MIRT442537	hsa-miR-4722-3p	PAR-CLIP	22100165
MIRT442536	hsa-miR-6727-3p	PAR-CLIP	22100165
MIRT442535	hsa-miR-3692-3p	PAR-CLIP	22100165
MIRT792904	hsa-miR-1208	CLIP-seq
MIRT792905	hsa-miR-1228	CLIP-seq
MIRT792906	hsa-miR-128	CLIP-seq
MIRT792907	hsa-miR-1285	CLIP-seq
MIRT792908	hsa-miR-1297	CLIP-seq
MIRT792909	hsa-miR-130a	CLIP-seq
MIRT792910	hsa-miR-130b	CLIP-seq
MIRT792911	hsa-miR-133a	CLIP-seq
MIRT792912	hsa-miR-133b	CLIP-seq
MIRT792913	hsa-miR-144	CLIP-seq
MIRT792914	hsa-miR-2277-3p	CLIP-seq
MIRT792915	hsa-miR-26a	CLIP-seq
MIRT792916	hsa-miR-26b	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT792919	hsa-miR-301a	CLIP-seq
MIRT792920	hsa-miR-301b	CLIP-seq
MIRT792921	hsa-miR-3117-5p	CLIP-seq
MIRT792922	hsa-miR-3160-3p	CLIP-seq
MIRT792923	hsa-miR-3160-5p	CLIP-seq
MIRT792924	hsa-miR-3187-5p	CLIP-seq
MIRT792925	hsa-miR-3190	CLIP-seq
MIRT792926	hsa-miR-3591-5p	CLIP-seq
MIRT792927	hsa-miR-3613-5p	CLIP-seq
MIRT792928	hsa-miR-3662	CLIP-seq
MIRT792929	hsa-miR-3666	CLIP-seq
MIRT792930	hsa-miR-3692	CLIP-seq
MIRT792931	hsa-miR-376c	CLIP-seq
MIRT792932	hsa-miR-378g	CLIP-seq
MIRT792933	hsa-miR-382	CLIP-seq
MIRT792934	hsa-miR-3919	CLIP-seq
MIRT792935	hsa-miR-3945	CLIP-seq
MIRT792936	hsa-miR-4253	CLIP-seq
MIRT792937	hsa-miR-4295	CLIP-seq
MIRT792938	hsa-miR-4314	CLIP-seq
MIRT792939	hsa-miR-4320	CLIP-seq
MIRT792940	hsa-miR-4438	CLIP-seq
MIRT792941	hsa-miR-4465	CLIP-seq
MIRT792942	hsa-miR-4473	CLIP-seq
MIRT792943	hsa-miR-4486	CLIP-seq
MIRT792944	hsa-miR-4487	CLIP-seq
MIRT792945	hsa-miR-450b-5p	CLIP-seq
MIRT792946	hsa-miR-452	CLIP-seq
MIRT792947	hsa-miR-4533	CLIP-seq
MIRT792948	hsa-miR-454	CLIP-seq
MIRT792949	hsa-miR-4671-3p	CLIP-seq
MIRT792950	hsa-miR-4676-3p	CLIP-seq
MIRT792951	hsa-miR-4747-5p	CLIP-seq
MIRT792952	hsa-miR-4782-5p	CLIP-seq
MIRT792953	hsa-miR-507	CLIP-seq
MIRT792954	hsa-miR-5096	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT792956	hsa-miR-514	CLIP-seq
MIRT792957	hsa-miR-514b-3p	CLIP-seq
MIRT792958	hsa-miR-520a-5p	CLIP-seq
MIRT792959	hsa-miR-525-5p	CLIP-seq
MIRT792960	hsa-miR-539	CLIP-seq
MIRT792961	hsa-miR-544	CLIP-seq
MIRT792962	hsa-miR-555	CLIP-seq
MIRT792963	hsa-miR-556-5p	CLIP-seq
MIRT792964	hsa-miR-557	CLIP-seq
MIRT792965	hsa-miR-558	CLIP-seq
MIRT792966	hsa-miR-579	CLIP-seq
MIRT792967	hsa-miR-612	CLIP-seq
MIRT792968	hsa-miR-664	CLIP-seq
MIRT792969	hsa-miR-7	CLIP-seq
MIRT792970	hsa-miR-767-3p	CLIP-seq
MIRT792906	hsa-miR-128	CLIP-seq
MIRT792913	hsa-miR-144	CLIP-seq
MIRT1545468	hsa-miR-145	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT1545469	hsa-miR-3150a-5p	CLIP-seq
MIRT1545470	hsa-miR-3150b-5p	CLIP-seq
MIRT1545471	hsa-miR-3180-5p	CLIP-seq
MIRT1545472	hsa-miR-4712-5p	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT1545473	hsa-miR-770-5p	CLIP-seq
MIRT1933982	hsa-miR-122	CLIP-seq
MIRT1933983	hsa-miR-1226	CLIP-seq
MIRT1933984	hsa-miR-197	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT1933985	hsa-miR-3199	CLIP-seq
MIRT792927	hsa-miR-3613-5p	CLIP-seq
MIRT1933986	hsa-miR-3616-5p	CLIP-seq
MIRT1933987	hsa-miR-3647-5p	CLIP-seq
MIRT1933988	hsa-miR-3659	CLIP-seq
MIRT1933989	hsa-miR-371b-5p	CLIP-seq
MIRT792931	hsa-miR-376c	CLIP-seq
MIRT792933	hsa-miR-382	CLIP-seq
MIRT1933990	hsa-miR-4432	CLIP-seq
MIRT1933991	hsa-miR-4446-5p	CLIP-seq
MIRT1933992	hsa-miR-4475	CLIP-seq
MIRT1933993	hsa-miR-4515	CLIP-seq
MIRT1933994	hsa-miR-4668-3p	CLIP-seq
MIRT1933995	hsa-miR-4684-3p	CLIP-seq
MIRT1933996	hsa-miR-4698	CLIP-seq
MIRT1933997	hsa-miR-4755-5p	CLIP-seq
MIRT1933998	hsa-miR-499-5p	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT1933999	hsa-miR-573	CLIP-seq
MIRT1934000	hsa-miR-634	CLIP-seq
MIRT1934001	hsa-miR-653	CLIP-seq
MIRT792904	hsa-miR-1208	CLIP-seq
MIRT1933982	hsa-miR-122	CLIP-seq
MIRT1933983	hsa-miR-1226	CLIP-seq
MIRT792905	hsa-miR-1228	CLIP-seq
MIRT2173813	hsa-miR-1276	CLIP-seq
MIRT792906	hsa-miR-128	CLIP-seq
MIRT792908	hsa-miR-1297	CLIP-seq
MIRT2173814	hsa-miR-1324	CLIP-seq
MIRT792911	hsa-miR-133a	CLIP-seq
MIRT792912	hsa-miR-133b	CLIP-seq
MIRT792913	hsa-miR-144	CLIP-seq
MIRT1545468	hsa-miR-145	CLIP-seq
MIRT2173815	hsa-miR-19a	CLIP-seq
MIRT2173816	hsa-miR-19b	CLIP-seq
MIRT2173817	hsa-miR-2053	CLIP-seq
MIRT792914	hsa-miR-2277-3p	CLIP-seq
MIRT2173818	hsa-miR-2278	CLIP-seq
MIRT2173819	hsa-miR-24	CLIP-seq
MIRT2173820	hsa-miR-2467-3p	CLIP-seq
MIRT792915	hsa-miR-26a	CLIP-seq
MIRT792916	hsa-miR-26b	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT2173821	hsa-miR-3074-5p	CLIP-seq
MIRT792921	hsa-miR-3117-5p	CLIP-seq
MIRT2173822	hsa-miR-3119	CLIP-seq
MIRT2173823	hsa-miR-3120-3p	CLIP-seq
MIRT1545469	hsa-miR-3150a-5p	CLIP-seq
MIRT1545470	hsa-miR-3150b-5p	CLIP-seq
MIRT792923	hsa-miR-3160-5p	CLIP-seq
MIRT1545471	hsa-miR-3180-5p	CLIP-seq
MIRT792925	hsa-miR-3190	CLIP-seq
MIRT1933985	hsa-miR-3199	CLIP-seq
MIRT2173824	hsa-miR-3655	CLIP-seq
MIRT1933988	hsa-miR-3659	CLIP-seq
MIRT792928	hsa-miR-3662	CLIP-seq
MIRT2173825	hsa-miR-3686	CLIP-seq
MIRT792930	hsa-miR-3692	CLIP-seq
MIRT2173826	hsa-miR-374c	CLIP-seq
MIRT792931	hsa-miR-376c	CLIP-seq
MIRT792933	hsa-miR-382	CLIP-seq
MIRT792934	hsa-miR-3919	CLIP-seq
MIRT2173827	hsa-miR-3920	CLIP-seq
MIRT2173828	hsa-miR-410	CLIP-seq
MIRT2173829	hsa-miR-4263	CLIP-seq
MIRT2173830	hsa-miR-4282	CLIP-seq
MIRT2173831	hsa-miR-4283	CLIP-seq
MIRT2173832	hsa-miR-4284	CLIP-seq
MIRT2173833	hsa-miR-4293	CLIP-seq
MIRT2173834	hsa-miR-4311	CLIP-seq
MIRT792939	hsa-miR-4320	CLIP-seq
MIRT2173835	hsa-miR-4330	CLIP-seq
MIRT1933990	hsa-miR-4432	CLIP-seq
MIRT792940	hsa-miR-4438	CLIP-seq
MIRT792941	hsa-miR-4465	CLIP-seq
MIRT2173836	hsa-miR-4468	CLIP-seq
MIRT1933992	hsa-miR-4475	CLIP-seq
MIRT2173837	hsa-miR-4489	CLIP-seq
MIRT2173838	hsa-miR-4495	CLIP-seq
MIRT2173839	hsa-miR-4496	CLIP-seq
MIRT792945	hsa-miR-450b-5p	CLIP-seq
MIRT1933993	hsa-miR-4515	CLIP-seq
MIRT792946	hsa-miR-452	CLIP-seq
MIRT2173840	hsa-miR-4639-5p	CLIP-seq
MIRT2173841	hsa-miR-4658	CLIP-seq
MIRT1933994	hsa-miR-4668-3p	CLIP-seq
MIRT792950	hsa-miR-4676-3p	CLIP-seq
MIRT1933995	hsa-miR-4684-3p	CLIP-seq
MIRT1545472	hsa-miR-4712-5p	CLIP-seq
MIRT2173842	hsa-miR-4738-5p	CLIP-seq
MIRT2173843	hsa-miR-4778-5p	CLIP-seq
MIRT792952	hsa-miR-4782-5p	CLIP-seq
MIRT1933998	hsa-miR-499-5p	CLIP-seq
MIRT792953	hsa-miR-507	CLIP-seq
MIRT792954	hsa-miR-5096	CLIP-seq
MIRT2173844	hsa-miR-511	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT792958	hsa-miR-520a-5p	CLIP-seq
MIRT792959	hsa-miR-525-5p	CLIP-seq
MIRT792960	hsa-miR-539	CLIP-seq
MIRT792961	hsa-miR-544	CLIP-seq
MIRT2173845	hsa-miR-548c-3p	CLIP-seq
MIRT2173846	hsa-miR-548n	CLIP-seq
MIRT2173847	hsa-miR-548t	CLIP-seq
MIRT792962	hsa-miR-555	CLIP-seq
MIRT792964	hsa-miR-557	CLIP-seq
MIRT2173848	hsa-miR-569	CLIP-seq
MIRT2173849	hsa-miR-574-5p	CLIP-seq
MIRT792966	hsa-miR-579	CLIP-seq
MIRT2173850	hsa-miR-583	CLIP-seq
MIRT2173851	hsa-miR-596	CLIP-seq
MIRT1934000	hsa-miR-634	CLIP-seq
MIRT2173852	hsa-miR-648	CLIP-seq
MIRT2173853	hsa-miR-655	CLIP-seq
MIRT2173854	hsa-miR-656	CLIP-seq
MIRT792968	hsa-miR-664	CLIP-seq
MIRT792969	hsa-miR-7	CLIP-seq
MIRT2173855	hsa-miR-766	CLIP-seq
MIRT792970	hsa-miR-767-3p	CLIP-seq
MIRT1545473	hsa-miR-770-5p	CLIP-seq
MIRT2173856	hsa-miR-889	CLIP-seq
MIRT792906	hsa-miR-128	CLIP-seq
MIRT792913	hsa-miR-144	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT792904	hsa-miR-1208	CLIP-seq
MIRT1933982	hsa-miR-122	CLIP-seq
MIRT1933983	hsa-miR-1226	CLIP-seq
MIRT2173813	hsa-miR-1276	CLIP-seq
MIRT792906	hsa-miR-128	CLIP-seq
MIRT792907	hsa-miR-1285	CLIP-seq
MIRT2477520	hsa-miR-1286	CLIP-seq
MIRT2477521	hsa-miR-1323	CLIP-seq
MIRT2173814	hsa-miR-1324	CLIP-seq
MIRT792913	hsa-miR-144	CLIP-seq
MIRT1545468	hsa-miR-145	CLIP-seq
MIRT2477522	hsa-miR-148a	CLIP-seq
MIRT2477523	hsa-miR-148b	CLIP-seq
MIRT2477524	hsa-miR-152	CLIP-seq
MIRT2477525	hsa-miR-186	CLIP-seq
MIRT1933984	hsa-miR-197	CLIP-seq
MIRT2173818	hsa-miR-2278	CLIP-seq
MIRT2173820	hsa-miR-2467-3p	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT2477526	hsa-miR-3065-5p	CLIP-seq
MIRT2477527	hsa-miR-3115	CLIP-seq
MIRT792921	hsa-miR-3117-5p	CLIP-seq
MIRT2477528	hsa-miR-3133	CLIP-seq
MIRT1545469	hsa-miR-3150a-5p	CLIP-seq
MIRT1545470	hsa-miR-3150b-5p	CLIP-seq
MIRT792923	hsa-miR-3160-5p	CLIP-seq
MIRT2477529	hsa-miR-3163	CLIP-seq
MIRT1545471	hsa-miR-3180-5p	CLIP-seq
MIRT792924	hsa-miR-3187-5p	CLIP-seq
MIRT1933985	hsa-miR-3199	CLIP-seq
MIRT2477530	hsa-miR-3646	CLIP-seq
MIRT2173824	hsa-miR-3655	CLIP-seq
MIRT2477531	hsa-miR-3658	CLIP-seq
MIRT1933988	hsa-miR-3659	CLIP-seq
MIRT2173825	hsa-miR-3686	CLIP-seq
MIRT1933989	hsa-miR-371b-5p	CLIP-seq
MIRT792932	hsa-miR-378g	CLIP-seq
MIRT792934	hsa-miR-3919	CLIP-seq
MIRT792935	hsa-miR-3945	CLIP-seq
MIRT2477532	hsa-miR-409-3p	CLIP-seq
MIRT2173828	hsa-miR-410	CLIP-seq
MIRT792936	hsa-miR-4253	CLIP-seq
MIRT2173829	hsa-miR-4263	CLIP-seq
MIRT2477533	hsa-miR-4272	CLIP-seq
MIRT2477534	hsa-miR-4307	CLIP-seq
MIRT2173834	hsa-miR-4311	CLIP-seq
MIRT792938	hsa-miR-4314	CLIP-seq
MIRT1933990	hsa-miR-4432	CLIP-seq
MIRT792940	hsa-miR-4438	CLIP-seq
MIRT2173836	hsa-miR-4468	CLIP-seq
MIRT1933992	hsa-miR-4475	CLIP-seq
MIRT792943	hsa-miR-4486	CLIP-seq
MIRT2173838	hsa-miR-4495	CLIP-seq
MIRT2173839	hsa-miR-4496	CLIP-seq
MIRT2477535	hsa-miR-4511	CLIP-seq
MIRT1933993	hsa-miR-4515	CLIP-seq
MIRT792946	hsa-miR-452	CLIP-seq
MIRT1933994	hsa-miR-4668-3p	CLIP-seq
MIRT792950	hsa-miR-4676-3p	CLIP-seq
MIRT1933995	hsa-miR-4684-3p	CLIP-seq
MIRT1933996	hsa-miR-4698	CLIP-seq
MIRT1545472	hsa-miR-4712-5p	CLIP-seq
MIRT2477536	hsa-miR-4722-5p	CLIP-seq
MIRT2173842	hsa-miR-4738-5p	CLIP-seq
MIRT2477537	hsa-miR-4766-3p	CLIP-seq
MIRT2173843	hsa-miR-4778-5p	CLIP-seq
MIRT1933998	hsa-miR-499-5p	CLIP-seq
MIRT2173844	hsa-miR-511	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT792958	hsa-miR-520a-5p	CLIP-seq
MIRT792959	hsa-miR-525-5p	CLIP-seq
MIRT792960	hsa-miR-539	CLIP-seq
MIRT792961	hsa-miR-544	CLIP-seq
MIRT2173845	hsa-miR-548c-3p	CLIP-seq
MIRT2477538	hsa-miR-548o	CLIP-seq
MIRT2477539	hsa-miR-548p	CLIP-seq
MIRT2477540	hsa-miR-570	CLIP-seq
MIRT2173850	hsa-miR-583	CLIP-seq
MIRT2477541	hsa-miR-605	CLIP-seq
MIRT792967	hsa-miR-612	CLIP-seq
MIRT1934000	hsa-miR-634	CLIP-seq
MIRT2173854	hsa-miR-656	CLIP-seq
MIRT2173855	hsa-miR-766	CLIP-seq
MIRT792970	hsa-miR-767-3p	CLIP-seq
MIRT1545473	hsa-miR-770-5p	CLIP-seq
MIRT2173856	hsa-miR-889	CLIP-seq
MIRT2477542	hsa-miR-95	CLIP-seq
MIRT792904	hsa-miR-1208	CLIP-seq
MIRT1933982	hsa-miR-122	CLIP-seq
MIRT1933983	hsa-miR-1226	CLIP-seq
MIRT792906	hsa-miR-128	CLIP-seq
MIRT792907	hsa-miR-1285	CLIP-seq
MIRT2477521	hsa-miR-1323	CLIP-seq
MIRT2173814	hsa-miR-1324	CLIP-seq
MIRT792913	hsa-miR-144	CLIP-seq
MIRT1545468	hsa-miR-145	CLIP-seq
MIRT1933984	hsa-miR-197	CLIP-seq
MIRT792917	hsa-miR-27a	CLIP-seq
MIRT792918	hsa-miR-27b	CLIP-seq
MIRT792921	hsa-miR-3117-5p	CLIP-seq
MIRT1545469	hsa-miR-3150a-5p	CLIP-seq
MIRT1545470	hsa-miR-3150b-5p	CLIP-seq
MIRT792923	hsa-miR-3160-5p	CLIP-seq
MIRT1545471	hsa-miR-3180-5p	CLIP-seq
MIRT792924	hsa-miR-3187-5p	CLIP-seq
MIRT1933985	hsa-miR-3199	CLIP-seq
MIRT2173824	hsa-miR-3655	CLIP-seq
MIRT1933988	hsa-miR-3659	CLIP-seq
MIRT1933989	hsa-miR-371b-5p	CLIP-seq
MIRT792932	hsa-miR-378g	CLIP-seq
MIRT792934	hsa-miR-3919	CLIP-seq
MIRT792935	hsa-miR-3945	CLIP-seq
MIRT2173828	hsa-miR-410	CLIP-seq
MIRT792936	hsa-miR-4253	CLIP-seq
MIRT792938	hsa-miR-4314	CLIP-seq
MIRT1933990	hsa-miR-4432	CLIP-seq
MIRT792940	hsa-miR-4438	CLIP-seq
MIRT1933992	hsa-miR-4475	CLIP-seq
MIRT792943	hsa-miR-4486	CLIP-seq
MIRT2173839	hsa-miR-4496	CLIP-seq
MIRT1933993	hsa-miR-4515	CLIP-seq
MIRT792946	hsa-miR-452	CLIP-seq
MIRT1933994	hsa-miR-4668-3p	CLIP-seq
MIRT792950	hsa-miR-4676-3p	CLIP-seq
MIRT1933995	hsa-miR-4684-3p	CLIP-seq
MIRT1933996	hsa-miR-4698	CLIP-seq
MIRT1545472	hsa-miR-4712-5p	CLIP-seq
MIRT2173842	hsa-miR-4738-5p	CLIP-seq
MIRT1933998	hsa-miR-499-5p	CLIP-seq
MIRT2173844	hsa-miR-511	CLIP-seq
MIRT792955	hsa-miR-513a-5p	CLIP-seq
MIRT792958	hsa-miR-520a-5p	CLIP-seq
MIRT792959	hsa-miR-525-5p	CLIP-seq
MIRT792960	hsa-miR-539	CLIP-seq
MIRT792961	hsa-miR-544	CLIP-seq
MIRT2173845	hsa-miR-548c-3p	CLIP-seq
MIRT2477538	hsa-miR-548o	CLIP-seq
MIRT792967	hsa-miR-612	CLIP-seq
MIRT1934000	hsa-miR-634	CLIP-seq
MIRT2173855	hsa-miR-766	CLIP-seq
MIRT792970	hsa-miR-767-3p	CLIP-seq
MIRT1545473	hsa-miR-770-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	10716990
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	15644318
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005096	Function	GTPase activator activity	IDA	15644318
GO:0005515	Function	Protein binding	IPI	10716990, 15644318, 16417406, 16866877, 18292223, 19020088, 19332778, 19651892, 22084092, 23572552, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA	14973189
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	ISS
GO:0005829	Component	Cytosol	IDA	10716990
GO:0006486	Process	Protein glycosylation	IMP	17227842
GO:0006887	Process	Exocytosis	IEA
GO:0006887	Process	Exocytosis	TAS	10212200
GO:0007030	Process	Golgi organization	IMP	17227842, 20360857
GO:0010256	Process	Endomembrane system organization	IEA
GO:0010256	Process	Endomembrane system organization	IMP	20360857
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0017022	Function	Myosin binding	IPI	15644318
GO:0030532	Component	Small nuclear ribonucleoprotein complex	IDA	18292223
GO:0030837	Process	Negative regulation of actin filament polymerization	IMP	22084092
GO:0031175	Process	Neuron projection development	IEA
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	12571360
GO:0034237	Function	Protein kinase A regulatory subunit binding	IEA
GO:0034260	Process	Negative regulation of GTPase activity	IDA	15644318
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	22084092
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0090303	Process	Positive regulation of wound healing	IMP	22084092
GO:2000114	Process	Regulation of establishment of cell polarity	IMP	22084092

Other IDs

• MIM: 604141
• HGNC: 15772
• e!Ensembl: ENSG00000066777

Protein

• UniProt ID: Q9Y6D6
• Protein name: Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (Brefeldin A-inhibited GEP 1) (ADP-ribosylation factor guanine nucleotide-exchange factor 1) (p200 ARF guanine nucleotide exchange factor) (p200 ARF-GEP1)
• Protein function: Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent
• PDB: 3LTL, 5EE5, 5J5C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16213	DCB	28 → 213	Dimerisation and cyclophilin-binding domain of Mon2	Family
  PF12783	Sec7_N	419 → 578	Guanine nucleotide exchange factor in Golgi transport N-terminal	Domain
  PF01369	Sec7	698 → 882	Sec7 domain	Domain
  PF09324	DUF1981	1220 → 1303	Domain of unknown function (DUF1981)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placenta, lung, heart, brain, kidney and pancreas.
• Sequence:

  MYEGKKTKNMFLTRALEKILADKEVKKAHHSQLRKACEVALEEIKAETEKQSPPHGEAKA
  GSSTLPPVKSKTNFIEADKYFLPFELACQSKCPRIVSTSLDCLQKLIAYGHLTGNAPDST
  TPGKKLIDRIIETICGCFQGPQTDEGVQLQIIKALLTAVTSQHIEIHEGTVLQAVRTCYN
  IYLASKNLINQTTAKATLTQMLNVIFARMENQALQEAKQMEKERHRQHHHLLQSPVSHHE
  PESPQLRYLPPQTVDHISQEHEGDLDLHTNDVDKSLQDDTEPENGSDISSAENEQTEADQ
  ATAAETLSKNEVLYDGENHDCEEKPQDIVQNIVEEMVNIVVGDMGEGTTINASADGNIGT
  IEDGSDSENIQANGIPGTPISVAYTPSLPDDRLSVSSNDTQESGNSSGPSPGAKFSHILQ
  KDAFLVFRSLCKLSMKPLSDGPPDPKSHELRSKILSLQLLLSILQNAGPIFRTNEMFINA
  IKQYLCVALSKNGVSSVPEVFELSLSIFLTLLSNFKTHLKMQIEVFFKEIFLYILETSTS
  SFDHKWMVIQTLTRICADAQSVVDIYVNYDCDLNAANIFERLVNDLSKIAQGRGSQELGM
  SNVQELSLRKKGLECLVSILKCMVEWSKDQYVNPNSQTTLGQEKPSEQEMSEIKHPETIN
  RYGSLNSLESTSSSGIGSYSTQMSGTDNPEQFEVLKQQKEIIEQGIDLFNKKPKRGIQYL
  QEQGMLGTTPEDIAQFLHQEERLDSTQVGEFLGDNDKFNKEVMYAYVDQHDFSGKDFVSA
  LRMFLEGFRLPGEAQKIDRLMEKFAARYLECNQGQTLFASADTAYVLAYSIIMLTTDLHS
  PQVKNKMTKEQYIKMNRGINDSKDLPEEYLSAIYNEIAGKKISMKETKELTIPTKSSKQN
  VASEKQRRLLYNLEMEQMAKTAKALMEAVSHVQAPFTSATHLEHVRPMFKLAWTPFLAAF
  SVGLQDCDDTEVASLCLEGIRCAIRIACIFSIQLERDAYVQALARFTLLTVSSGITEMKQ
  KNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKPRYISGTVRGREGSL
  TGTKDQAPDEFVGLGLVGGNVDWKQIASIQESIGETSSQSVVVAVDRIFTGSTRLDGNAI
  VDFVRWLCAVSMDELLSTTHPRMFSLQKIVEISYYNMGRIRLQWSRIWEVIGDHFNKVGC
  NPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKRNRSPTIRDMVVRCI
  AQMVNSQAANIRSGWKNIFSVFHLAASDQDESIVELAFQTTGHIVTLVFEKHFPATIDSF
  QDAVKCLSEFACNAAFPDTSMEAIRLIRHCAKYVSDRPQAFKEYTSDDMNVAPEDRVWVR
  GWFPILFELSCIINRCKLDVRTRGLTVMFEIMKTYGHTYEKHWWQDLFRIVFRIFDNMKL
  PEQQTEKAEWMTTTCNHALYAICDVFTQYLEVLSDVLLDDIFAQLYWCVQQDNEQLARSG
  TNCLENVVILNGEKFTLEIWDKTCNCTLDIFKTTIPHALLTWRPNSGETAPPPPSPVSEK
  PLDTISQKSVDIHDSIQPRSVDNRPQAPLVSASAVNEEVSKIKSTAKFPEQKLFAALLIK
  CVVQLELIQTIDNIVFFPATSKKEDAENLAAAQRDAVDFDVRVDTQDQGMYRFLTSQQLF
  KLLDCLLESHRFAKAFNSNNEQRTALWKAGFKGKSKPNLLKQETSSLACGLRILFRMYMD
  ESRVSAWEEVQQRLLNVCSEALSYFLTLTSESHREAWTNLLLLFLTKVLKISDNRFKAHA
  SFYYPLLCEIMQFDLIPELRAVLRRFFLRIGVVFQISQPPEQELGINKQ

• Sequence length: 1849

Pathways

KEGG:

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
ARFGEF1-related disorder	Pathogenic; Likely pathogenic	rs749942462, rs2491365757	RCV004753677 RCV003406103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior	Pathogenic; Likely pathogenic	rs1838287933, rs146133956, rs1308211020, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692	RCV001290722 RCV001290730 RCV001290729 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed ability to walk	Likely pathogenic	rs2129577314	RCV002256955	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Pathogenic; Likely pathogenic	rs1838287933, rs146133956, rs1308211020, rs1839416809, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692	RCV001290722 RCV001290730 RCV001290729 RCV001290723 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	Likely pathogenic; Pathogenic	rs2491448044, rs771760657, rs774148781, rs2491465476, rs2491942104, rs200901179, rs2491448473, rs2491713504, rs749942462, rs2491808665, rs2491464614, rs2491362882, rs1838287933, rs1840520188, rs1804841321	RCV002286490 RCV002467423 RCV004763492 RCV003224987 RCV003233373 RCV003314386 RCV003387594 RCV003389292 RCV003389305 RCV003448540 RCV004018023 RCV004595377 RCV002276681 RCV002276680 RCV002276683	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES	Pathogenic	rs150286262, rs1840507738, rs1805830692	RCV002277101 RCV002276679 RCV002276682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal-onset seizure	Likely pathogenic	rs2128900324	RCV001785398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic; Likely pathogenic	rs1838287933, rs146133956, rs1308211020, rs1839416809, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692	RCV001290722 RCV001290730 RCV001290729 RCV001290723 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2128900324, rs1838287933, rs146133956, rs1308211020, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692	RCV001785398 RCV001290722 RCV001290730 RCV001290729 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2129578084, rs2128870578, rs2128865599, rs2129577321	RCV002274309 RCV002274310 RCV002274311 RCV002274312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1805354051	RCV004018284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs1840507738, rs1838287933	RCV001290121 RCV001780236	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC CENTRAL SEROUS RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay, impaired speech, and behavioral abnormalities	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME 21	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrioventricular Block	Atrioventricular block	BEFREE	15630133		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31260720		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21570352, 21871176, 21986093, 24074788, 25935582, 26590813, 28215665, 28369967, 28380313, 28766132, 30335191, 30475668, 31377477		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21871176	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26474971	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29303768		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	29256978		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34113008	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	31678406		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34113008	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28414797		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31456919		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31199673		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31199673		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34113008	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 21	Joubert Syndrome	CLINVAR_DG	26092869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	31678406		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21570352, 21871176, 21986093, 24074788, 25935582, 26590813, 28215665, 28369967, 28380313, 28766132, 30335191, 30475668, 31377477		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14757431, 21871176		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23897043		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12091118, 25935582, 29691417		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	11677065		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	27100062, 29035919		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30814512		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28710524		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	11677065		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28443529, 28516227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35048795	Associate	★☆☆☆☆ Found in Text Mining only