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SLC46A1 solute carrier family 46 (folate transporter), member 1 [Homo sapiens (human)]

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001242366 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_080669 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005277786 PREDICTED: Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol SLC46A1
Entrez Gene ID 113235
Full Name solute carrier family 46 (folate transporter), member 1
Synonyms G21, HCP1, PCFT
General protein information
Preferred Names
proton-coupled folate transporter
proton-coupled folate transporter
heme carrier protein 1
solute carrier family 46 member 1
Gene Type protein-coding
Organism Homo sapiens (human)



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 disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013].

MIM: 611672

Folate malabsorption, hereditary, 229050 (3)

mRNA Protein Product Sequence Price Select
NM_001242366, 530788235 NP_001229295, 334688816 proton-coupled folate transporter isoform 2 ORF Sequence $550.00
NM_080669, 530788234 NP_542400, 31543204 proton-coupled folate transporter isoform 1 ORF Sequence $550.00
XM_005277786, 530432866 XP_005277843, 530432867 proton-coupled folate transporter isoform X1 ORF Sequence $400.00
hsa04978Mineral absorption
hsa04977Vitamin digestion and absorption
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_11167Metabolism of folate and pterines
REACT_11193Metabolism of vitamins and cofactors
REACT_15518Transmembrane transport of small molecules
REACT_25060Iron uptake and transport
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169169Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
REACT_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_169318Defective MMAB causes methylmalonic aciduria type cblB
REACT_169256Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
REACT_169415Defective GIF causes intrinsic factor deficiency
REACT_169439Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
REACT_169132Defective CUBN causes hereditary megaloblastic anemia 1
REACT_169280Defective AMN causes hereditary megaloblastic anemia 1
REACT_169313Defective MUT causes methylmalonic aciduria mut type
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
REACT_169149Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
REACT_169316Defective MMAA causes methylmalonic aciduria type cblA
REACT_169178Defective CD320 causes methylmalonic aciduria
REACT_169385Defects in vitamin and cofactor metabolism
REACT_169238Defects in biotin (Btn) metabolism
REACT_169403Defective BTD causes biotidinase deficiency
Homo sapiens (human)SLC46A1NP_542400.2
Macaca mulatta (Rhesus monkey)SLC46A1XP_001106954.1
Canis lupus familiaris (dog)SLC46A1XP_003435354.1
Bos taurus (cattle)SLC46A1NP_001073053.1
Mus musculus (house mouse)Slc46a1NP_081016.2
Rattus norvegicus (Norway rat)Slc46a1NP_001013991.1
Gallus gallus (chicken)SLC46A1NP_001191995.1
Danio rerio (zebrafish)slc46a1NP_956579.1
Caenorhabditis elegansY4C6B.5NP_500781.2
Caenorhabditis elegansY43F8A.5NP_507773.1
Xenopus (Silurana) tropicalis (western clawed frog)slc46a1NP_001120610.1
GO:0006766vitamin metabolic processTAS
GO:0006767water-soluble vitamin metabolic processTAS
GO:0006879cellular iron ion homeostasisTAS
GO:0015884folic acid transportIDA
GO:0015886heme transportIEA
GO:0044281small molecule metabolic processTAS
GO:0046655folic acid metabolic processTAS
GO:0051958methotrexate transportIEA
GO:0055085transmembrane transportTAS
GO:0005886plasma membraneTAS
GO:0016021integral component of membraneIEA
GO:0016324apical plasma membraneIDA
GO:0031526brush border membraneIEA
GO:0005542folic acid bindingIEA
GO:0008517folic acid transporter activityIDA
GO:0015232heme transporter activityIEA
GO:0015350methotrexate transporter activityIEA
GeneCards SLC46A1
UniProt Q96NT5
MIM 611672
Ensembl ENSG00000076351
HGNC 30521
HPRD 14715

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SLC46A1 gene?

The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in the process of using energy to move certain B vitamins called folates across the brush border membrane for absorption, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid). Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.


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