AAH10691.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
SLC46A1 protein
NCBI Official Synonym Full Names
solute carrier family 46 (folate transporter), member 1
NCBI Protein Information
proton-coupled folate transporter; heme carrier protein 1
UniProt Protein Name
Proton-coupled folate transporter
UniProt Synonym Protein Names
G21; Heme carrier protein 1; PCFT/HCP1; Solute carrier family 46 member 1
UniProt Synonym Gene Names
UniProt Entry Name
PCFT_HUMAN
NCBI Summary for 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]
UniProt Comments for SLC46A1
Function: 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. Ref.6 Ref.7 Ref.8 Ref.10
Subunit structure: Monomer. Ref.15
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Cytoplasm
By similarity. Note: Localizes to the apical membrane of intestinal cells in iron-deficient cells, while it resides in the cytoplasm in iron-replete cells
By similarity. Ref.5 Ref.6 Ref.7 Ref.8 Ref.10 Ref.15
Tissue specificity: Expressed in kidney, liver, placenta, small intestine, spleen, retina and retinal pigment epithelium. Lower levels found in colon and testis. Very low levels in brain, lung, stomach, heart and muscle. In intestine, expressed in duodenum with lower levels in jejunum, ileum, cecum, rectum and segments of the colon. Ref.6 Ref.9
Involvement in disease: Hereditary folate malabsorption (HFM) [MIM:229050]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.8 Ref.16 Ref.17 Ref.18 Ref.19
Sequence similarities: Belongs to the major facilitator superfamily. SLC46A family.
Biophysicochemical propertiesKinetic parameters:KM=1.3 µM for folic acid (at pH 5.5) Ref.6 Ref.10KM=1.5 µM for folic acid (at pH 6.0)KM=2.7 µM for folic acid (at pH 6.5)KM=6.0 µM for folic acid (at pH 7.0)KM=56.2 µM for folic acid (at pH 7.5)pH dependence:Optimum pH is 4.0-5.5. Activity decreases above pH 5.5 and reaches negligible levels at neutral pH and above.
Research Articles on SLC46A1
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Products associated with anti-SLC46A1 antibody
Pathways associated with anti-SLC46A1 antibody
Diseases associated with anti-SLC46A1 antibody
Organs/Tissues associated with anti-SLC46A1 antibody
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