SLC46A1 (solute carrier family 46 member 1)

Gene

• Entrez ID: 113235
• Gene name: Solute carrier family 46 member 1
• Gene symbol: SLC46A1
• Synonyms (NCBI Gene): G21, HCP1, HsPCFT, PCFT, hPCFT
• Chromosome: 17
• Chromosome location: 17q11.2
• Summary: This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338769	C>-,CC	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs80338770	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs80338771	C>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs80338772	G>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs154623632	GC>TT	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs281875208	G>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs281875209	C>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs281875210	C>A,G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs371270310	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397515391	GG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs397515574	G>-,GG	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1597834560	AG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040975	hsa-miR-18a-3p	CLASH	23622248
MIRT503684	hsa-miR-561-3p	PAR-CLIP	23446348
MIRT503683	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT503682	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT503681	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT503680	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT503679	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT503678	hsa-miR-3666	PAR-CLIP	23446348
MIRT503677	hsa-miR-4295	PAR-CLIP	23446348
MIRT503676	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT503675	hsa-miR-1909-5p	PAR-CLIP	23446348
MIRT503674	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT503673	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT503672	hsa-miR-6844	PAR-CLIP	23446348
MIRT503671	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT503670	hsa-miR-1238-5p	PAR-CLIP	23446348
MIRT503669	hsa-miR-4758-5p	PAR-CLIP	23446348
MIRT503668	hsa-miR-4658	PAR-CLIP	23446348
MIRT503667	hsa-miR-6790-5p	PAR-CLIP	23446348
MIRT503666	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT503665	hsa-miR-527	PAR-CLIP	23446348
MIRT503663	hsa-miR-8081	PAR-CLIP	23446348
MIRT496641	hsa-miR-4511	PAR-CLIP	22291592
MIRT496640	hsa-miR-6895-5p	PAR-CLIP	22291592
MIRT496639	hsa-miR-6814-5p	PAR-CLIP	22291592
MIRT496638	hsa-miR-6793-3p	PAR-CLIP	22291592
MIRT496637	hsa-miR-138-1-3p	PAR-CLIP	22291592
MIRT496636	hsa-miR-3682-5p	PAR-CLIP	22291592
MIRT496635	hsa-miR-4713-5p	PAR-CLIP	22291592
MIRT496634	hsa-miR-6867-3p	PAR-CLIP	22291592
MIRT496633	hsa-miR-629-3p	PAR-CLIP	22291592
MIRT503684	hsa-miR-561-3p	PAR-CLIP	23446348
MIRT503683	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT503682	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT503681	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT503680	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT503679	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT503678	hsa-miR-3666	PAR-CLIP	23446348
MIRT503677	hsa-miR-4295	PAR-CLIP	23446348
MIRT503676	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT503675	hsa-miR-1909-5p	PAR-CLIP	23446348
MIRT503674	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT503673	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT503672	hsa-miR-6844	PAR-CLIP	23446348
MIRT503671	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT503670	hsa-miR-1238-5p	PAR-CLIP	23446348
MIRT503669	hsa-miR-4758-5p	PAR-CLIP	23446348
MIRT503668	hsa-miR-4658	PAR-CLIP	23446348
MIRT503667	hsa-miR-6790-5p	PAR-CLIP	23446348
MIRT503666	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT503665	hsa-miR-527	PAR-CLIP	23446348
MIRT503663	hsa-miR-8081	PAR-CLIP	23446348
MIRT496641	hsa-miR-4511	PAR-CLIP	22291592
MIRT496640	hsa-miR-6895-5p	PAR-CLIP	22291592
MIRT496639	hsa-miR-6814-5p	PAR-CLIP	22291592
MIRT496638	hsa-miR-6793-3p	PAR-CLIP	22291592
MIRT496637	hsa-miR-138-1-3p	PAR-CLIP	22291592
MIRT496636	hsa-miR-3682-5p	PAR-CLIP	22291592
MIRT496635	hsa-miR-4713-5p	PAR-CLIP	22291592
MIRT496634	hsa-miR-6867-3p	PAR-CLIP	22291592
MIRT496633	hsa-miR-629-3p	PAR-CLIP	22291592
MIRT1364538	hsa-miR-1197	CLIP-seq
MIRT1364539	hsa-miR-1200	CLIP-seq
MIRT1364540	hsa-miR-128	CLIP-seq
MIRT1364541	hsa-miR-142-5p	CLIP-seq
MIRT1364542	hsa-miR-1470	CLIP-seq
MIRT1364543	hsa-miR-1587	CLIP-seq
MIRT1364544	hsa-miR-185	CLIP-seq
MIRT1364545	hsa-miR-1910	CLIP-seq
MIRT1364546	hsa-miR-27a	CLIP-seq
MIRT1364547	hsa-miR-27b	CLIP-seq
MIRT1364548	hsa-miR-3156-3p	CLIP-seq
MIRT1364549	hsa-miR-3202	CLIP-seq
MIRT1364550	hsa-miR-340	CLIP-seq
MIRT1364551	hsa-miR-3652	CLIP-seq
MIRT1364552	hsa-miR-3925-3p	CLIP-seq
MIRT1364553	hsa-miR-3944-5p	CLIP-seq
MIRT1364554	hsa-miR-4301	CLIP-seq
MIRT1364555	hsa-miR-4306	CLIP-seq
MIRT1364556	hsa-miR-4324	CLIP-seq
MIRT1364557	hsa-miR-4428	CLIP-seq
MIRT1364558	hsa-miR-4430	CLIP-seq
MIRT1364559	hsa-miR-4438	CLIP-seq
MIRT1364560	hsa-miR-4469	CLIP-seq
MIRT1364561	hsa-miR-4492	CLIP-seq
MIRT1364562	hsa-miR-4498	CLIP-seq
MIRT1364563	hsa-miR-4533	CLIP-seq
MIRT1364564	hsa-miR-455-3p	CLIP-seq
MIRT1364565	hsa-miR-4644	CLIP-seq
MIRT1364566	hsa-miR-4656	CLIP-seq
MIRT1364567	hsa-miR-4662a-5p	CLIP-seq
MIRT1364568	hsa-miR-4667-3p	CLIP-seq
MIRT1364569	hsa-miR-4674	CLIP-seq
MIRT1364570	hsa-miR-4675	CLIP-seq
MIRT1364571	hsa-miR-4680-3p	CLIP-seq
MIRT1364572	hsa-miR-4741	CLIP-seq
MIRT1364573	hsa-miR-4775	CLIP-seq
MIRT1364574	hsa-miR-5095	CLIP-seq
MIRT1364575	hsa-miR-513a-5p	CLIP-seq
MIRT1364576	hsa-miR-544b	CLIP-seq
MIRT1364577	hsa-miR-618	CLIP-seq
MIRT1364578	hsa-miR-762	CLIP-seq
MIRT1364579	hsa-miR-766	CLIP-seq
MIRT1364580	hsa-miR-944	CLIP-seq
MIRT1364581	hsa-miR-1245	CLIP-seq
MIRT1364582	hsa-miR-125a-5p	CLIP-seq
MIRT1364583	hsa-miR-125b	CLIP-seq
MIRT1364584	hsa-miR-1267	CLIP-seq
MIRT1364585	hsa-miR-1293	CLIP-seq
MIRT1364586	hsa-miR-134	CLIP-seq
MIRT1364587	hsa-miR-150	CLIP-seq
MIRT1364588	hsa-miR-181a	CLIP-seq
MIRT1364589	hsa-miR-181b	CLIP-seq
MIRT1364590	hsa-miR-181c	CLIP-seq
MIRT1364591	hsa-miR-181d	CLIP-seq
MIRT1364592	hsa-miR-1976	CLIP-seq
MIRT1364593	hsa-miR-221	CLIP-seq
MIRT1364594	hsa-miR-222	CLIP-seq
MIRT1364595	hsa-miR-2355-5p	CLIP-seq
MIRT1364596	hsa-miR-3118	CLIP-seq
MIRT1364597	hsa-miR-3157-5p	CLIP-seq
MIRT1364598	hsa-miR-3182	CLIP-seq
MIRT1364599	hsa-miR-4251	CLIP-seq
MIRT1364600	hsa-miR-4257	CLIP-seq
MIRT1364601	hsa-miR-4262	CLIP-seq
MIRT1364602	hsa-miR-4319	CLIP-seq
MIRT1364556	hsa-miR-4324	CLIP-seq
MIRT1364603	hsa-miR-4483	CLIP-seq
MIRT1364604	hsa-miR-4530	CLIP-seq
MIRT1364605	hsa-miR-4640-3p	CLIP-seq
MIRT1364606	hsa-miR-4652-3p	CLIP-seq
MIRT1364607	hsa-miR-4685-5p	CLIP-seq
MIRT1364608	hsa-miR-4690-3p	CLIP-seq
MIRT1364609	hsa-miR-4691-3p	CLIP-seq
MIRT1364610	hsa-miR-4715-3p	CLIP-seq
MIRT1364611	hsa-miR-4722-3p	CLIP-seq
MIRT1364612	hsa-miR-4749-3p	CLIP-seq
MIRT1364613	hsa-miR-509-3p	CLIP-seq
MIRT1364614	hsa-miR-539	CLIP-seq
MIRT1364615	hsa-miR-548v	CLIP-seq
MIRT1364616	hsa-miR-556-3p	CLIP-seq
MIRT1364617	hsa-miR-646	CLIP-seq
MIRT2108179	hsa-miR-1184	CLIP-seq
MIRT2108180	hsa-miR-1207-5p	CLIP-seq
MIRT2108181	hsa-miR-1226	CLIP-seq
MIRT2108182	hsa-miR-1301	CLIP-seq
MIRT2108183	hsa-miR-149	CLIP-seq
MIRT1364543	hsa-miR-1587	CLIP-seq
MIRT2108184	hsa-miR-183	CLIP-seq
MIRT1364544	hsa-miR-185	CLIP-seq
MIRT2108185	hsa-miR-296-5p	CLIP-seq
MIRT2108186	hsa-miR-3064-5p	CLIP-seq
MIRT2108187	hsa-miR-3065-3p	CLIP-seq
MIRT2108188	hsa-miR-3120-5p	CLIP-seq
MIRT2108189	hsa-miR-3123	CLIP-seq
MIRT2108190	hsa-miR-3126-5p	CLIP-seq
MIRT1364598	hsa-miR-3182	CLIP-seq
MIRT2108191	hsa-miR-3192	CLIP-seq
MIRT1364549	hsa-miR-3202	CLIP-seq
MIRT2108192	hsa-miR-338-3p	CLIP-seq
MIRT2108193	hsa-miR-3663-5p	CLIP-seq
MIRT2108194	hsa-miR-378g	CLIP-seq
MIRT1364552	hsa-miR-3925-3p	CLIP-seq
MIRT2108195	hsa-miR-4283	CLIP-seq
MIRT2108196	hsa-miR-4292	CLIP-seq
MIRT2108197	hsa-miR-4300	CLIP-seq
MIRT1364555	hsa-miR-4306	CLIP-seq
MIRT2108198	hsa-miR-4323	CLIP-seq
MIRT2108199	hsa-miR-4330	CLIP-seq
MIRT2108200	hsa-miR-4419a	CLIP-seq
MIRT2108201	hsa-miR-4447	CLIP-seq
MIRT2108202	hsa-miR-4463	CLIP-seq
MIRT2108203	hsa-miR-4472	CLIP-seq
MIRT2108204	hsa-miR-4489	CLIP-seq
MIRT2108205	hsa-miR-4494	CLIP-seq
MIRT2108206	hsa-miR-4505	CLIP-seq
MIRT2108207	hsa-miR-4510	CLIP-seq
MIRT2108208	hsa-miR-4514	CLIP-seq
MIRT1364604	hsa-miR-4530	CLIP-seq
MIRT1364565	hsa-miR-4644	CLIP-seq
MIRT2108209	hsa-miR-4649-3p	CLIP-seq
MIRT1364566	hsa-miR-4656	CLIP-seq
MIRT2108210	hsa-miR-4660	CLIP-seq
MIRT1364607	hsa-miR-4685-5p	CLIP-seq
MIRT2108211	hsa-miR-4692	CLIP-seq
MIRT1364610	hsa-miR-4715-3p	CLIP-seq
MIRT2108212	hsa-miR-4733-3p	CLIP-seq
MIRT2108213	hsa-miR-4736	CLIP-seq
MIRT2108214	hsa-miR-4747-5p	CLIP-seq
MIRT2108215	hsa-miR-4758-3p	CLIP-seq
MIRT2108216	hsa-miR-4763-3p	CLIP-seq
MIRT2108217	hsa-miR-4794	CLIP-seq
MIRT2108218	hsa-miR-5047	CLIP-seq
MIRT2108219	hsa-miR-570	CLIP-seq
MIRT2108220	hsa-miR-759	CLIP-seq
MIRT2108221	hsa-miR-760	CLIP-seq
MIRT1364579	hsa-miR-766	CLIP-seq
MIRT2108222	hsa-miR-920	CLIP-seq
MIRT2332004	hsa-miR-2467-5p	CLIP-seq
MIRT1364538	hsa-miR-1197	CLIP-seq
MIRT1364539	hsa-miR-1200	CLIP-seq
MIRT2108181	hsa-miR-1226	CLIP-seq
MIRT1364540	hsa-miR-128	CLIP-seq
MIRT1364546	hsa-miR-27a	CLIP-seq
MIRT1364547	hsa-miR-27b	CLIP-seq
MIRT2332005	hsa-miR-3074-5p	CLIP-seq
MIRT2108188	hsa-miR-3120-5p	CLIP-seq
MIRT2332006	hsa-miR-3124-3p	CLIP-seq
MIRT1364597	hsa-miR-3157-5p	CLIP-seq
MIRT2332007	hsa-miR-3622b-5p	CLIP-seq
MIRT1364599	hsa-miR-4251	CLIP-seq
MIRT2332008	hsa-miR-4260	CLIP-seq
MIRT2108195	hsa-miR-4283	CLIP-seq
MIRT2332009	hsa-miR-4286	CLIP-seq
MIRT1364556	hsa-miR-4324	CLIP-seq
MIRT2108199	hsa-miR-4330	CLIP-seq
MIRT2332010	hsa-miR-4435	CLIP-seq
MIRT2332011	hsa-miR-4436b-3p	CLIP-seq
MIRT1364559	hsa-miR-4438	CLIP-seq
MIRT2108204	hsa-miR-4489	CLIP-seq
MIRT1364566	hsa-miR-4656	CLIP-seq
MIRT1364571	hsa-miR-4680-3p	CLIP-seq
MIRT1364609	hsa-miR-4691-3p	CLIP-seq
MIRT2332012	hsa-miR-4704-5p	CLIP-seq
MIRT1364610	hsa-miR-4715-3p	CLIP-seq
MIRT2332013	hsa-miR-4728-5p	CLIP-seq
MIRT2108212	hsa-miR-4733-3p	CLIP-seq
MIRT2108215	hsa-miR-4758-3p	CLIP-seq
MIRT1364573	hsa-miR-4775	CLIP-seq
MIRT2332014	hsa-miR-485-5p	CLIP-seq
MIRT1364574	hsa-miR-5095	CLIP-seq
MIRT1364575	hsa-miR-513a-5p	CLIP-seq
MIRT2332015	hsa-miR-516b	CLIP-seq
MIRT1364576	hsa-miR-544b	CLIP-seq
MIRT1364616	hsa-miR-556-3p	CLIP-seq
MIRT2332016	hsa-miR-580	CLIP-seq
MIRT2332017	hsa-miR-624	CLIP-seq
MIRT1364580	hsa-miR-944	CLIP-seq
MIRT2108196	hsa-miR-4292	CLIP-seq
MIRT2332004	hsa-miR-2467-5p	CLIP-seq
MIRT2332004	hsa-miR-2467-5p	CLIP-seq
MIRT2466057	hsa-miR-1	CLIP-seq
MIRT2108179	hsa-miR-1184	CLIP-seq
MIRT2466058	hsa-miR-1185	CLIP-seq
MIRT1364539	hsa-miR-1200	CLIP-seq
MIRT2466059	hsa-miR-1224-5p	CLIP-seq
MIRT2466060	hsa-miR-1245b-5p	CLIP-seq
MIRT2466061	hsa-miR-1296	CLIP-seq
MIRT2466062	hsa-miR-138	CLIP-seq
MIRT1364542	hsa-miR-1470	CLIP-seq
MIRT2466063	hsa-miR-1912	CLIP-seq
MIRT2466064	hsa-miR-206	CLIP-seq
MIRT2466065	hsa-miR-224	CLIP-seq
MIRT2466066	hsa-miR-2278	CLIP-seq
MIRT2466067	hsa-miR-24	CLIP-seq
MIRT2332004	hsa-miR-2467-5p	CLIP-seq
MIRT2466068	hsa-miR-2861	CLIP-seq
MIRT2466069	hsa-miR-2909	CLIP-seq
MIRT2466070	hsa-miR-2964a-3p	CLIP-seq
MIRT2466071	hsa-miR-302f	CLIP-seq
MIRT2332005	hsa-miR-3074-5p	CLIP-seq
MIRT2466072	hsa-miR-3117-5p	CLIP-seq
MIRT2332006	hsa-miR-3124-3p	CLIP-seq
MIRT2466073	hsa-miR-3130-5p	CLIP-seq
MIRT2466074	hsa-miR-3142	CLIP-seq
MIRT2466075	hsa-miR-3143	CLIP-seq
MIRT2466076	hsa-miR-3160-5p	CLIP-seq
MIRT2466077	hsa-miR-3188	CLIP-seq
MIRT2466078	hsa-miR-324-5p	CLIP-seq
MIRT2466079	hsa-miR-34a	CLIP-seq
MIRT2466080	hsa-miR-34c-5p	CLIP-seq
MIRT2466081	hsa-miR-3605-5p	CLIP-seq
MIRT2466082	hsa-miR-3622a-3p	CLIP-seq
MIRT2466083	hsa-miR-3622b-3p	CLIP-seq
MIRT2466084	hsa-miR-3667-3p	CLIP-seq
MIRT2466085	hsa-miR-3677-5p	CLIP-seq
MIRT2466086	hsa-miR-3679-5p	CLIP-seq
MIRT2466087	hsa-miR-3691-3p	CLIP-seq
MIRT2108194	hsa-miR-378g	CLIP-seq
MIRT2466088	hsa-miR-3915	CLIP-seq
MIRT2466089	hsa-miR-3975	CLIP-seq
MIRT1364599	hsa-miR-4251	CLIP-seq
MIRT2466090	hsa-miR-4303	CLIP-seq
MIRT2466091	hsa-miR-4317	CLIP-seq
MIRT2108198	hsa-miR-4323	CLIP-seq
MIRT1364556	hsa-miR-4324	CLIP-seq
MIRT2466092	hsa-miR-4325	CLIP-seq
MIRT2466093	hsa-miR-4418	CLIP-seq
MIRT2466094	hsa-miR-4421	CLIP-seq
MIRT2332011	hsa-miR-4436b-3p	CLIP-seq
MIRT2466095	hsa-miR-4460	CLIP-seq
MIRT1364560	hsa-miR-4469	CLIP-seq
MIRT2466096	hsa-miR-4482	CLIP-seq
MIRT2466097	hsa-miR-449a	CLIP-seq
MIRT2466098	hsa-miR-449b	CLIP-seq
MIRT2108206	hsa-miR-4505	CLIP-seq
MIRT1364564	hsa-miR-455-3p	CLIP-seq
MIRT2466099	hsa-miR-4646-5p	CLIP-seq
MIRT2108209	hsa-miR-4649-3p	CLIP-seq
MIRT1364568	hsa-miR-4667-3p	CLIP-seq
MIRT2466100	hsa-miR-4689	CLIP-seq
MIRT2466101	hsa-miR-4727-3p	CLIP-seq
MIRT2466102	hsa-miR-4733-5p	CLIP-seq
MIRT2466103	hsa-miR-4761-3p	CLIP-seq
MIRT2466104	hsa-miR-4777-3p	CLIP-seq
MIRT2466105	hsa-miR-4793-3p	CLIP-seq
MIRT2466106	hsa-miR-4797-5p	CLIP-seq
MIRT2332014	hsa-miR-485-5p	CLIP-seq
MIRT2466107	hsa-miR-509-3-5p	CLIP-seq
MIRT2466108	hsa-miR-509-5p	CLIP-seq
MIRT2466109	hsa-miR-515-5p	CLIP-seq
MIRT1364576	hsa-miR-544b	CLIP-seq
MIRT2466110	hsa-miR-548q	CLIP-seq
MIRT2332016	hsa-miR-580	CLIP-seq
MIRT2466111	hsa-miR-613	CLIP-seq
MIRT2466112	hsa-miR-616	CLIP-seq
MIRT2466113	hsa-miR-661	CLIP-seq
MIRT2466114	hsa-miR-668	CLIP-seq
MIRT2466115	hsa-miR-885-3p	CLIP-seq
MIRT1364542	hsa-miR-1470	CLIP-seq
MIRT2626510	hsa-miR-1825	CLIP-seq
MIRT2108185	hsa-miR-296-5p	CLIP-seq
MIRT2626511	hsa-miR-29a	CLIP-seq
MIRT2626512	hsa-miR-29b	CLIP-seq
MIRT2626513	hsa-miR-29c	CLIP-seq
MIRT2626514	hsa-miR-361-3p	CLIP-seq
MIRT2466084	hsa-miR-3667-3p	CLIP-seq
MIRT1364560	hsa-miR-4469	CLIP-seq
MIRT1364568	hsa-miR-4667-3p	CLIP-seq
MIRT2466104	hsa-miR-4777-3p	CLIP-seq
MIRT2626515	hsa-miR-520f	CLIP-seq
MIRT2626516	hsa-miR-567	CLIP-seq
MIRT2626517	hsa-miR-582-5p	CLIP-seq
MIRT2466058	hsa-miR-1185	CLIP-seq
MIRT2466059	hsa-miR-1224-5p	CLIP-seq
MIRT1364542	hsa-miR-1470	CLIP-seq
MIRT2466067	hsa-miR-24	CLIP-seq
MIRT2332004	hsa-miR-2467-5p	CLIP-seq
MIRT2466068	hsa-miR-2861	CLIP-seq
MIRT2108185	hsa-miR-296-5p	CLIP-seq
MIRT2626511	hsa-miR-29a	CLIP-seq
MIRT2626512	hsa-miR-29b	CLIP-seq
MIRT2626513	hsa-miR-29c	CLIP-seq
MIRT2332005	hsa-miR-3074-5p	CLIP-seq
MIRT2466072	hsa-miR-3117-5p	CLIP-seq
MIRT2332006	hsa-miR-3124-3p	CLIP-seq
MIRT2466077	hsa-miR-3188	CLIP-seq
MIRT2466081	hsa-miR-3605-5p	CLIP-seq
MIRT2626514	hsa-miR-361-3p	CLIP-seq
MIRT2466084	hsa-miR-3667-3p	CLIP-seq
MIRT2466085	hsa-miR-3677-5p	CLIP-seq
MIRT2466086	hsa-miR-3679-5p	CLIP-seq
MIRT2466088	hsa-miR-3915	CLIP-seq
MIRT2466089	hsa-miR-3975	CLIP-seq
MIRT2691264	hsa-miR-4268	CLIP-seq
MIRT2466094	hsa-miR-4421	CLIP-seq
MIRT2466095	hsa-miR-4460	CLIP-seq
MIRT1364560	hsa-miR-4469	CLIP-seq
MIRT2108209	hsa-miR-4649-3p	CLIP-seq
MIRT1364568	hsa-miR-4667-3p	CLIP-seq
MIRT2466100	hsa-miR-4689	CLIP-seq
MIRT2466101	hsa-miR-4727-3p	CLIP-seq
MIRT2691265	hsa-miR-4727-5p	CLIP-seq
MIRT2691266	hsa-miR-4769-3p	CLIP-seq
MIRT2466104	hsa-miR-4777-3p	CLIP-seq
MIRT2332014	hsa-miR-485-5p	CLIP-seq
MIRT2466112	hsa-miR-616	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NRF1	Activation	20724482

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005542	Function	Folic acid binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005768	Component	Endosome	IDA	19074442
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	29344585, 32893190, 34619546
GO:0005886	Component	Plasma membrane	IDA	17129779, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006879	Process	Intracellular iron ion homeostasis	TAS
GO:0008517	Function	Folic acid transmembrane transporter activity	IDA	17129779, 17475902, 29344585, 32893190, 34619546
GO:0008517	Function	Folic acid transmembrane transporter activity	IEA
GO:0008517	Function	Folic acid transmembrane transporter activity	IMP	19762432
GO:0008517	Function	Folic acid transmembrane transporter activity	TAS
GO:0009986	Component	Cell surface	HDA	19581412
GO:0010008	Component	Endosome membrane	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IDA	17129779
GO:0015232	Function	Heme transmembrane transporter activity	IDA	17129779
GO:0015232	Function	Heme transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IDA	17475902
GO:0015293	Function	Symporter activity	IEA
GO:0015350	Function	Methotrexate transmembrane transporter activity	IEA
GO:0015350	Function	Methotrexate transmembrane transporter activity	ISS
GO:0015884	Process	Folic acid transport	IDA	17129779, 17475902, 19762432
GO:0015884	Process	Folic acid transport	IMP	31494288
GO:0015886	Process	Heme transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	19074442
GO:0016323	Component	Basolateral plasma membrane	IDA	31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	17475902, 19762432, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0042168	Process	Heme metabolic process	TAS
GO:0046654	Process	Tetrahydrofolate biosynthetic process	IEA
GO:0046655	Process	Folic acid metabolic process	TAS
GO:0051958	Process	Methotrexate transport	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0098829	Process	Intestinal folate absorption	IC	19762432
GO:0098838	Process	Folate transmembrane transport	IMP	17129779, 19074442
GO:0140211	Function	Folic acid:proton symporter activity	IC	19762432
GO:0140211	Function	Folic acid:proton symporter activity	IDA	19389703, 34040256
GO:0140211	Function	Folic acid:proton symporter activity	IEA
GO:1902600	Process	Proton transmembrane transport	IDA	17129779
GO:1904447	Process	Folate import across plasma membrane	IDA	19389703, 19762432, 34040256
GO:1904447	Process	Folate import across plasma membrane	IEA

Other IDs

• MIM: 611672
• HGNC: 30521
• e!Ensembl: ENSG00000076351

Protein

• UniProt ID: Q96NT5
• Protein name: Proton-coupled folate transporter (HsPCFT) (hPCFT) (Heme carrier protein 1) (PCFT/HCP1) (Solute carrier family 46 member 1)
• Protein function: Proton-coupled folate symporter that mediates folate absorption using an H(+) gradient as a driving force (PubMed:17129779, PubMed:17446347, PubMed:17475902, PubMed:19389703, PubMed:19762432, PubMed:25504888, PubMed:29344585, PubMed:30858177, Pu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	29 → 407	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at highest level in the upper half of the small intestine (duodenum and jejunum), expression decreases downwardly in the subsequent quarter and is undetectable in the last quarter (the lowest ileum) (PubMed:17129779, PubMed:1
• Sequence:

  MEGSASPPEKPRARPAAAVLCRGPVEPLVFLANFALVLQGPLTTQYLWHRFSADLGYNGT
  RQRGGCSNRSADPTMQEVETLTSHWTLYMNVGGFLVGLFSSTLLGAWSDSVGRRPLLVLA
  SLGLLLQALVSVFVVQLQLHVGYFVLGRILCALLGDFGGLLAASFASVADVSSSRSRTFR
  MALLEASIGVAGMLASLLGGHWLRAQGYANPFWLALALLIAMTLYAAFCFGETLKEPKST
  RLFTFRHHRSIVQLYVAPAPEKSRKHLALYSLAIFVVITVHFGAQDILTLYELSTPLCWD
  SKLIGYGSAAQHLPYLTSLLALKLLQYCLADAWVAEIGLAFNILGMVVFAFATITPLMFT
  GYGLLFLSLVITPVIRAKLSKLVRETEQGALFSAVACVNSLAMLTASGIFNSLYPATLNF
  MKGFPFLLGAGLLLIPAVLIGMLEKADPHLEFQQFPQSP

• Sequence length: 459

Pathways

KEGG:

Antifolate resistance
Vitamin digestion and absorption
Mineral absorption
Folate transport and metabolism

Reactome:

Metabolism of folate and pterines
Iron uptake and transport

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
Congenital defect of folate absorption	Pathogenic; Likely pathogenic	rs80338775, rs80338769, rs80338770, rs80338772, rs80338773, rs2508308450, rs2508263280, rs80338774, rs397515574, rs397515391, rs281875209, rs1597834560	RCV000000898 RCV000000899 RCV000000900 RCV000000901 RCV000000902 RCV000000903 RCV004579636 RCV004594736 RCV000020948 RCV000023910 RCV000023912 RCV000023913 RCV002488075	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC46A1-related disorder	Pathogenic	rs80338775	RCV004757092	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOLATE MALABSORPTION, HEREDITARY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERHOMOCYSTEINEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALABSORPTION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALABSORPTION SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
Anemia	Anemia	GENOMICS_ENGLAND_DG	17641272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	CTD_human_DG	21346251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15374952, 29339250		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28138029		★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	21333572	Associate	★☆☆☆☆ Found in Text Mining only
Cheilitis	Cheilitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	26789141	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	26789141	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25697897, 26193446, 29293549		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25697897, 26193446	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16763151		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28358816		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28358816		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29082606		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29571151		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28138029		★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	17446347, 18718264, 19074442, 19403800, 19740703, 20005757, 20225891, 20724482, 20795774, 20805364, 21333572, 21489556, 21602279, 22345511, 22785121, 22843796, 23552283, 23609145, 23816405, 29344585, 29390264, 35773682	Associate	★☆☆☆☆ Found in Text Mining only
Folate Malabsorption, Hereditary	Congenital defect of folate absorption	GENOMICS_ENGLAND_DG	11804211, 27604308, 27664775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folate Malabsorption, Hereditary	Congenital defect of folate absorption	UNIPROT_DG	17129779, 17446347, 18559978, 20686069, 20805364, 21333572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folate Malabsorption, Hereditary	Congenital defect of folate absorption	BEFREE	17446347, 18559978, 18718264, 19074442, 19508863, 19740703, 20005757, 20686069, 20795774, 20805364, 21333572, 21346251, 21489556, 22345511, 22843796, 22954694, 23816405, 24512081, 24534056, 27664775, 29344585, 29390264, 31371121, 31494288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folate Malabsorption, Hereditary	Congenital defect of folate absorption	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folate Malabsorption, Hereditary	Congenital defect of folate absorption	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folate Malabsorption, Hereditary	Congenital defect of folate absorption	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	21333572, 21346251, 24534056		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31003476		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31003476		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glossitis	Glossitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glutamate formiminotransferase deficiency	Glutamate Formiminotransferase Deficiency	BEFREE	22108709		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	19176287		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	19176287	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	19176287		★☆☆☆☆ Found in Text Mining only
Hereditary folate malabsorption	Hereditary Folate Malabsorption	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	CTD_human_DG	19204075		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	19740703		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
leukemia	Leukemia	BEFREE	18817749		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18817749		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	32295203	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	CTD_human_DG	17129779, 17446347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	LHGDN	17446347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	18236695, 29208467, 31792273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	15374952, 29339250		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22954694, 29127457, 30914440		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	22954694, 28945836		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	28945836	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15374952, 22954694, 25281617, 28138029, 29326243, 30269276		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	26789141		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	26789141	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31405972		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22954694, 29127457		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	17641272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	CTD_human_DG	21346251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28826660		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	21333572	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	19740703		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	19740703	Associate	★☆☆☆☆ Found in Text Mining only