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


RefSeq Accession Definition Services Price Order
NM_001242366 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 2, mRNA. ORF Sequence $375.84
Peptide Services
Antibody Services
Protein Services
NM_080669 Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. ORF Sequence $400.20
Peptide Services
Antibody Services
Protein Services


Gene Symbol SLC46A1
Entrez Gene ID 113235
Full Name solute carrier family 46 (folate transporter), member 1
Synonyms FLJ39875, HCP1, MGC9564, PCFT
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 (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].
Disorder

MIM: 611672

Folate malabsorption, hereditary, 229050 (3)

mRNA Protein Product Sequence Price Select
NM_001242366, 334688815 NP_001229295, 334688816 proton-coupled folate transporter isoform 2 Full Length $2890.35
ORF Sequence $375.84
NM_080669, 334688814 NP_542400, 31543204 proton-coupled folate transporter isoform 1 Full Length $2928.15
ORF Sequence $400.20
KEGG
hsa04977Vitamin digestion and absorption
hsa04978Mineral absorption
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_11167Metabolism of folate and pterines
REACT_111217Metabolism
REACT_25060Iron uptake and transport
REACT_11193Metabolism of vitamins and cofactors
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
GeneCards SLC46A1
UniProt Q96NT5
MIM 611672
Ensembl ENSG00000076351
HGNC 30521
HPRD 14715

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

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

Interactant

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