Detail Data SLC46A1

Basic description

Gene Name	SLC46A1
Protein Name	Proton-coupled folate transporter (G21) (Heme carrier protein 1) (PCFT/HCP1) (Solute carrier family 46 member 1)
Family	SLC46
Category	-
Reaction name	Extracellular folate import across the plasma membrane Cytosolic folate export across the plasma membrane SLC46A1 transports FeHM from extracellular region to cytosol
Reaction	1 FOLA [extracellular region] --> 1 FOLA [cytosol] 1 FOLA [cytosol] --> 1 FOLA [extracellular region] 1 FeHM [extracellular region] --> 1 FeHM [cytosol]

Network

Structure

Sequence

[Overview]

        10         20         30         40         50         60         70         80         90        100        110        120        130        140        150        160        170        180        190        200        210        220        230        240        250        260        270        280        290        300        310        320        330        340        350        360        370        380        390        400        410        420        430        440        450 
MEGSASPPEK PRARPAAAVL CRGPVEPLVF LANFALVLQG PLTTQYLWHR FSADLGYNGT RQRGGCSNRS ADPTMQEVET LTSHWTLYMN VGGFLVGLFS STLLGAWSDS VGRRPLLVLA SLGLLLQALV SVFVVQLQLH VGYFVLGRIL CALLGDFGGL LAASFASVAD VSSSRSRTFR MALLEASIGV AGMLASLLGG HWLRAQGYAN PFWLALALLI AMTLYAAFCF GETLKEPKST RLFTFRHHRS IVQLYVAPAP EKSRKHLALY SLAIFVVITV HFGAQDILTL YELSTPLCWD SKLIGYGSAA QHLPYLTSLL ALKLLQYCLA DAWVAEIGLA FNILGMVVFA FATITPLMFT GYGLLFLSLV ITPVIRAKLS KLVRETEQGA LFSAVACVNS LAMLTASGIF NSLYPATLNF MKGFPFLLGA GLLLIPAVLI GMLEKADPHL EFQQFPQSP 
CCCCCCCCCC CCCCCCHHHC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC CCCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCHHHHHHH HHHHHHHHHH HHHHHHCCCC HHHHHHHHHH HHHCCHHHHH HHHHHHHHHH CCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCCCCCHHH HHHHHCCCCC HHCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC HHHHHHHHHH HHHHHHHHHH HCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCC

Family alignment

[Overview]

SLC46A1   MEGSASPPEK---PRARPAAAVLCRGPVEPLVFLANFALVLQGPLTTQYLWHRFSADLG----YNGTRQRGGCSNRSADPTM-----QEVETLTSHWTLYMNVGGFLVGLFSSTLLGAWSDSVGRRPLLVLASLGLLLQA----LVSVFVVQLQLHVGYFVLGRILCALLGDFGGLLAASFASVAD-VSSSRSRTFRMALLEASIGVAGMLASLLGGHWLRAQ-GYANPFWLALALLI---AMTL-YAAFCFG--ETLKEPKSTRL-------FTFRHHRSI--------VQLYVAPAPEKSRKHLALYSLAIFVVITVHF---GAQDILTLYELSTPLCWDSKLIGYGSAAQHLPYLTSLLALKLLQYCLADAWVAEIGLAFNILGMVVFAFATITPLMFTGYGLLFLSLVITPVIRAKLSKLVRETEQGALFSAVACVNSLAMLTASGIFNSLYPATLNFMKGFPFLLGAGLLLIPAVLIGMLE-----KADPHLEFQQFPQSP-------
SLC46A2   MSPEVTCPRRGHLPRFHP------RTWVEPVVASSQVAASLY--------------DAGLLLVVKASYGTGGSSNHSASPSPRGALEDQQQRAISNFYIIYNLVVGLSPLLSAYGLGWLSDRYHRKISICMSLLGFLLSRLGLLLKVLLDWPVEVLYGAAALN----GLFGGFSAFWSGVMALGSL-GSSEGRRSVRLILIDLMLGLAGFCGSMASGHLFKQMAGHSGQGLILTACSVSCASFALLYSLLVLKVPESVAKP-SQELPAVDTVSGTVGTYRTLDPDQLDQQYAVGHPPSPGKAKPHKTTIALLFVGAIIYDLAVVGTVDVIPLFVLREPLGWNQVQVGYGMAAGYTIFITSFLGVLVFSRCFRDTTMIMIGMVSFGSGALLLAFVKETYMFYIARAVMLFALIPVTTIRSAMSKLIKGSSYGKVFVILQLSLALTGVVTSTLYNKIYQLTMDMFVGSCFALSSFLSFLAIIPISIVA------------YKQVPLSPYGDIIEK
SLC46A3   -------------------MKILF---VEPAIFLSAFAMTLTGPLTTQYVYRRIWEETGN-YTFSSDSNISECEKNKSSPIF--AFQEEVQKKVSRFNLQMDISGLIPGLVSTFILLSISDHYGRKFPMILSSVGALATSVWLCLLCYFAFPFQLLIASTFIG----AFCGNYTTFWGACFAYIVDQCKEHKQKTIRIAIIDFLLGLVTGLTGLSSGYFIREL-GFEWSF-LIIAVSL---AVNLIYILFFLG--DPVKECSSQNVTMSCSEGFKNLFYRTY--------MLFKNA-----SGKRRFLLCLLLFTVITYFFVVIGIAPIFILYELDSPLCWNEVFIGYGSALGSASFLTSFLGIWLFSYCMEDIHMAFIGIFTTMTGMAMTAFASTTLMMFLARVPFLFTIVPFSVLRSMLSKVVRSTEQGTLFACIAFLETLGGVTAVSTFNGIYSATVAWYPGFTFLLSAGLLLLPAISLCVVKCTSWNEGSYELLIQEESSEDASDR---

Variant

check	gene name	residue number	Reference Amino Acid / Variant Amino Acid	minor allele frequency	rs number
--	SLC46A1	8	P/S	0.000176509	rs41297065
--	SLC46A1	15	P/S	0.00013108	rs781838735
--	SLC46A1	29	V/I	0.000371601	rs41297067
--	SLC46A1	53	A/V	0.000223979	rs41297069
--	SLC46A1	63	R/S	0.000159722	rs41297071
--	SLC46A1	99	F/L	0.000166053	rs201862124
--	SLC46A1	109	G/V	0.000366968	rs41297121
--	SLC46A1	110	S/N	0.000171877	rs201076728
--	SLC46A1	171	V/D	0.0009467	rs189103810
--	SLC46A1	208	Y/F	0.00076676	rs201837257
--	SLC46A1	295	T/A	0.000585729	rs34552966
--	SLC46A1	338	G/S	0.000445977	rs281875209
--	SLC46A1	375	M/T	0.000130776	rs199727773
--	SLC46A1	382	N/S	0.025	.
--	SLC46A1	427	P/S	0.00311016	rs186143284

Phylogenetic tree

Pathway

Priority	Gene Name	Reactome (Gene)	Reactome (Pathway)
	SLC46A1	SLC46A1 [plasma membrane]	Metabolism of folate and pterines
	SLC46A1	SLC46A1 [plasma membrane]	Iron uptake and transport

Disease

Gene Name	Reactome (Gene)	Reactome (Pathway)
No data