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Protein Page:
SLC46A1 (human)

SLC46A1 Has been shown to act both as an intestinal proton- coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme. Defects in SLC46A1 are the cause of hereditary folate malabsorption (HFM). HFM is a rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent. Belongs to the major facilitator superfamily. SLC46A family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel; Transporter, iron
Chromosomal Location of Human Ortholog: 17q11.2
Cellular Component: apical plasma membrane; cell surface; cytoplasm; plasma membrane
Molecular Function: folic acid transporter activity; heme transporter activity; hydrogen ion transmembrane transporter activity; methotrexate transporter activity
Biological Process: cellular iron ion homeostasis; folic acid metabolic process; folic acid transport; methotrexate transport
Disease: Folate Malabsorption, Hereditary
Reference #:  Q96NT5 (UniProtKB)
Alt. Names/Synonyms: FLJ39875; G21; HCP1; Heme carrier protein 1; MGC9564; PCFT; PCFT/HCP1; Proton-coupled folate transporter; SLC46A1; solute carrier family 46 (folate transporter), member 1; Solute carrier family 46 member 1
Gene Symbols: SLC46A1
Molecular weight: 49,771 Da
Basal Isoelectric point: 9.03  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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