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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu16708 NM_080669 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu16737 NM_001242366 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu50063 XM_005277786 PREDICTED: Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu16708C NM_080669 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu16737C NM_001242366 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu50063C XM_005277786 PREDICTED: Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

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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
Names
proton-coupled folate transporter
G21
PCFT/HCP1
heme carrier protein 1
solute carrier family 46 member 1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

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 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].
Disorder

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
KEGG
hsa04978Mineral absorption
hsa04977Vitamin digestion and absorption
Reactome
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_111217Metabolism
REACT_116125Disease
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
Process
IDNameEvidence
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
Component
IDNameEvidence
GO:0005737cytoplasmISS
GO:0005886plasma membraneTAS
GO:0016021integral component of membraneIEA
GO:0016324apical plasma membraneIDA
GO:0031526brush border membraneIEA
Function
IDNameEvidence
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?

Interactant

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