SLC46A1

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]

Description

Solute carrier family 46 member 1

Tissue specificity

Tissue enhanced (intestine)

Subcell location

Plasma membrane, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

17 (28394642 - 28407197)

Ensembl ID

ENSG00000076351  (ver. 103.38)

Orthologs

Mouse Slc46a1: ENSMUSG00000020829

UniProt

Q96NT5

neXtProt

NX_Q96NT5

Human splice variants
Mouse splice variants

Protein structure