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Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_080669 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. ORF Sequence $400.20
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RefSeq Version NM_080669.4, 334688814
Length 6507 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.
Product proton-coupled folate transporter isoform 1
Comment

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 choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption (HFM) disease. HFM is characterized by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and recurrent infections. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011].


Transcript Variant: This variant (1, also known as HCP-1A ) encodes the longer isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_542400.2
CDS 99..1478
Misc Feature(1)315..1340
Misc Feature(2)315..1340
Misc Feature(3)order(315..317,366..368,375..380,387..389,399..404,
Misc Feature(4)357..419
Misc Feature(5)441..503
Misc Feature(6)543..605
Misc Feature(7)645..707
Misc Feature(8)729..791
Misc Feature(9)897..959
Misc Feature(10)1005..1073
Misc Feature(11)1107..1169
Misc Feature(12)1173..1235
Misc Feature(13)1266..1328
Misc Feature(14)1365..1427
Misc Feature(15)1470..1472
Exon (1)1..326
Gene:SLC46A1
Gene Synonym:HCP1; PCFT
Exon (2)327..1179
Gene:SLC46A1
Gene Synonym:HCP1; PCFT
Exon (3)1180..1263
Gene:SLC46A1
Gene Synonym:HCP1; PCFT
Exon (4)1264..1420
Gene:SLC46A1
Gene Synonym:HCP1; PCFT
Exon (5)1421..6489
Gene:SLC46A1
Gene Synonym:HCP1; PCFT
Translation MEGSASPPEKPRARPAAAVLCRGPVEPLVFLANFALVLQGPLTTQYLWHRFSADLGYNGT RQRGGCSNRSADPTMQEVETLTSHWTLYMNVGGFLVGLFSSTLLGAWSDSVGRRPLLVLA SLGLLLQALVSVFVVQLQLHVGYFVLGRILCALLGDFGGLLAASFASVADVSSSRSRTFR MALLEASIGVAGMLASLLGGHWLRAQGYANPFWLALALLIAMTLYAAFCFGETLKEPKST RLFTFRHHRSIVQLYVAPAPEKSRKHLALYSLAIFVVITVHFGAQDILTLYELSTPLCWD SKLIGYGSAAQHLPYLTSLLALKLLQYCLADAWVAEIGLAFNILGMVVFAFATITPLMFT GYGLLFLSLVITPVIRAKLSKLVRETEQGALFSAVACVNSLAMLTASGIFNSLYPATLNF MKGFPFLLGAGLLLIPAVLIGMLEKADPHLEFQQFPQSP
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Position Chain Variation Link
complement(120)-t, cdbSNP:41297065
complement(183)-g, adbSNP:41297067
complement(256)-t, cdbSNP:41297069
complement(287)-t, g, cdbSNP:41297071
complement(292)-, gdbSNP:80338769
complement(295..296)-gc, aadbSNP:154623632
complement(393)-dbSNP:
complement(393)-g, adbSNP:201862124
complement(427)-t, cdbSNP:201076728
435+a, c, tdbSNP:80338770
complement(524)-g, cdbSNP:61732735
537+c, gdbSNP:80338771
564+g, tdbSNP:281875210
complement(610)-t, adbSNP:189103810
complement(721)-t, adbSNP:201837257
complement(740)-t, cdbSNP:145398587
complement(828)-t, adbSNP:41297081
complement(854)-g, cdbSNP:185900287
complement(981)-t, cdbSNP:34552966
complement(996)-t, cdbSNP:201540617
complement(1010)-g, adbSNP:181338421
1052+c, gdbSNP:80338772
complement(1070)-g, adbSNP:188529539
complement(1088)-g, adbSNP:35257694
1102+a, cdbSNP:281875208
complement(1109)-g, adbSNP:141883705
1110+c, gdbSNP:281875209
complement(1215)-dbSNP:
complement(1215)-g, cdbSNP:75413886
complement(1220)-t, cdbSNP:41297095
1224+c, tdbSNP:80338773
1225+a, gdbSNP:281875211
complement(1306)-dbSNP:
complement(1306)-g, adbSNP:199727773
complement(1324)-t, adbSNP:201732528
complement(1324)-g, adbSNP:200596790
complement(1324)-, adbSNP:5819844
complement(1325)-g, adbSNP:199895119
complement(1327)-g, adbSNP:201932339
complement(1354)-t, cdbSNP:141992236
1372+c, gdbSNP:80338774
complement(1464)-dbSNP:
complement(1464)-g, adbSNP:186143284
complement(1538)-t, gdbSNP:41297121
complement(1557)-t, cdbSNP:116665535
complement(1712)-g, cdbSNP:4990808
complement(1939)-g, adbSNP:148132817
complement(2149)-t, cdbSNP:41297123
complement(2170)-t, adbSNP:112801276
complement(2194)-t, cdbSNP:147958365
complement(2207)-g, adbSNP:41297903
complement(2276)-c, adbSNP:41297905
complement(2291)-g, adbSNP:142005271
complement(2313)-t, cdbSNP:181698246
complement(2406)-g, adbSNP:2239907
complement(2491)-t, cdbSNP:144940240
complement(2522)-t, cdbSNP:149896785
complement(2537)-t, adbSNP:41297907
complement(2554)-t, cdbSNP:151184490
complement(2590)-g, adbSNP:1055191
complement(2591)-g, adbSNP:1055190
complement(2629)-t, adbSNP:62065282
complement(2721)-g, adbSNP:41297909
complement(2776)-t, cdbSNP:139970165
complement(2810)-t, cdbSNP:146041886
complement(2870)-t, gdbSNP:141940033
complement(2885)-t, cdbSNP:2239908
complement(2986)-, cdbSNP:41297911
complement(3118)-t, cdbSNP:189069712
complement(3126)-t, cdbSNP:114008979
complement(3186)-c, adbSNP:41297913
complement(3252)-g, adbSNP:2239909
complement(3272..3273)-, tgcdbSNP:71811444
complement(3273..3274)-, tgcdbSNP:56200575
complement(3273)-t, gdbSNP:200529579
complement(3274..3275)-, gctdbSNP:151085930
complement(3274..3275)-, gct, gc, tgcdbSNP:34137807
complement(3275..3276)-, gct, tgcdbSNP:146452556
complement(3278..3279)-, agcdbSNP:3031872
complement(3306)-c, adbSNP:41297915
complement(3314)-g, adbSNP:41297917
complement(3352)-t, adbSNP:186516852
complement(3417)-t, cdbSNP:144246026
complement(3449)-, tdbSNP:11291837
complement(3456)-g, cdbSNP:41297919
complement(3502)-t, gdbSNP:149579635
complement(3547)-g, cdbSNP:41297921
complement(3598)-g, cdbSNP:7225850
complement(3692)-g, adbSNP:41297923
complement(3699)-g, cdbSNP:147076381
complement(3723)-g, adbSNP:8082600
complement(3736)-g, adbSNP:143263583
complement(3790)-t, adbSNP:1133693
complement(4199)-g, cdbSNP:139343092
complement(4221)-t, cdbSNP:11871687
complement(4317)-t, cdbSNP:146914333
complement(4318)-t, cdbSNP:118138669
complement(4328)-g, adbSNP:739439
complement(4417)-t, cdbSNP:756767
complement(4443)-g, adbSNP:12453383
complement(4484)-t, gdbSNP:2239910
complement(4537)-c, adbSNP:2239911
complement(4595)-t, cdbSNP:147971222
complement(4702)-t, cdbSNP:56736971
complement(4703)-c, adbSNP:148837601
complement(4709)-t, cdbSNP:189192075
complement(4741)-t, cdbSNP:73273104
complement(4801)-t, cdbSNP:145537060
complement(4853)-t, cdbSNP:61456782
complement(4854)-t, gdbSNP:61629513
complement(4864)-t, cdbSNP:146812537
complement(5062)-t, cdbSNP:184347910
complement(5149)-t, cdbSNP:143705142
complement(5152)-, gdbSNP:36001053
complement(5260)-g, adbSNP:117451747
complement(5422)-t, cdbSNP:8081240
complement(5505)-g, adbSNP:8079943
complement(5538)-g, adbSNP:192565566
complement(5698)-, gtdbSNP:75625462
complement(5787)-g, adbSNP:189459886
complement(5791)-g, cdbSNP:117397871
complement(5893)-g, adbSNP:184621509
complement(6059)-g, adbSNP:116278566
complement(6109..6110)-, adbSNP:58580492
complement(6111..6112)-, adbSNP:34879232
complement(6255)-t, cdbSNP:1128161
complement(6348)-g, cdbSNP:143365131
complement(6359)-t, gdbSNP:1128162
complement(6444)-g, adbSNP:114943936
Gene SymbolSLC46A1
Gene SynonymHCP1; PCFT
Chromosome17
Locus Map17q11.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001242366 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 2, mRNA. Full Length $2890.35
ORF Sequence $375.84
NM_080669 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. Full Length $2928.15
ORF Sequence $400.20
Title Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption .
Author Shin,D.S., Zhao,R., Fiser,A. and Goldman,D.I.
Journal Am. J. Physiol., Cell Physiol. 303 (8), C834-C842 (2012)
Title Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1) .
Author Zhao,R., Shin,D.S., Fiser,A. and Goldman,I.D.
Journal Am. J. Physiol., Cell Physiol. 303 (6), C673-C681 (2012)
Title Heme carrier protein 1 transports heme and is involved in heme-Fe metabolism .
Author Le Blanc,S., Garrick,M.D. and Arredondo,M.
Journal Am. J. Physiol., Cell Physiol. 302 (12), C1780-C1785 (2012)
Title A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding .
Author Shin,D.S., Zhao,R., Yap,E.H., Fiser,A. and Goldman,I.D.
Journal Am. J. Physiol., Cell Physiol. 302 (9), C1405-C1412 (2012)
Title Heme carrier protein (HCP-1) spatially interacts with the CD163 hemoglobin uptake pathway and is a target of inflammatory macrophage activation .
Author Schaer,C.A., Vallelian,F., Imhof,A., Schoedon,G. and Schaer,D.J.
Journal J. Leukoc. Biol. 83 (2), 325-333 (2008)
Title The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption .
Author Zhao,R., Min,S.H., Qiu,A., Sakaris,A., Goldberg,G.L., Sandoval,C., Malatack,J.J., Rosenblatt,D.S. and Goldman,I.D.
Journal Blood 110 (4), 1147-1152 (2007)
Title Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium .
Author Sharma,S., Dimasi,D., Broer,S., Kumar,R. and Della,N.G.
Journal Exp. Cell Res. 313 (6), 1251-1259 (2007)
Title Haem carrier protein 1 (HCP1): Expression and functional studies in cultured cells .
Author Latunde-Dada,G.O., Takeuchi,K., Simpson,R.J. and McKie,A.T.
Journal FEBS Lett. 580 (30), 6865-6870 (2006)
Title Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption .
Author Qiu,A., Jansen,M., Sakaris,A., Min,S.H., Chattopadhyay,S., Tsai,E., Sandoval,C., Zhao,R., Akabas,M.H. and Goldman,I.D.
Journal Cell 127 (5), 917-928 (2006)
Title Identification of an intestinal heme transporter .
Author Shayeghi,M., Latunde-Dada,G.O., Oakhill,J.S., Laftah,A.H., Takeuchi,K., Halliday,N., Khan,Y., Warley,A., McCann,F.E., Hider,R.C., Frazer,D.M., Anderson,G.J., Vulpe,C.D., Simpson,R.J. and McKie,A.T.
Journal Cell 122 (5), 789-801 (2005)

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