QuickView for SLC46A1 (gene)

Gene Symbol:

SLC46A1 Homo sapiens

Full name:

solute carrier family 46 member 1

Synonyms:

G21, HCP1, PCFT, proton-coupled folate transporter, heme carrier protein 1, solute carrier family 46 (folate transporter), member 1

Genomic Location:

Chr 17: 23745788-23757355

Description:

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 fun...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATA_C ,  GATAAGR_GATA_C ,  SP1_Q4_01 ,  GGGCGGR_SP1_Q6 ,  SP1_Q6 ,  RCGCANGCGY_NRF1_Q6 ,  SP1_Q6_01

Cytogenetic Map:

17q11.2

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