Protein name: PCFT Aliases: HCP1 Substrates: Reduced folates, folic acid, antifolates Transport type: Cotransporter / proton-symporter Tissue and cellular expression: small intestine, choroid plexus, kidney (proximal tubule), liver (sinusoidal), placenta Subcellular expression: apical (small intestine, kidney), basolateral (choroid plexus), sinusoidal (liver) Disease: Hereditary folate malabsorption [OMIM: 229050] Locus: 17q11.2 Sequence ID: NP_001229295.1, NM_001242366.1 NP_542400.2, NM_080669.4 Gene ID: 113235 Splice variants: N/D


Gene names: SLC46A1, HCP1, PCFT
Protein names and data: PCFT_HUMAN, Full=Proton-coupled folate transporter, Full=G21;Full=Heme carrier protein 1;Full=PCFT/HCP1;Full=Solute carrier family 46 member 1; Length: 459 a.a., Mass: 49771 Da,
fasta formatted sequence

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
Cellular 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)
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

Database cross-references

UniProt: Q96NT5
NextBio: 78800
OMIM: 229050 611672
Ensembl: ENST00000440501
GeneCard: GC17M028626
TCDB: 2.A.1.50.1
PharmGenUCSF: SLC46A1
Guide to Pharmacology: SLC46A1 (1213)
SLC46 family of folate transporters (1213)

HGNC: HGNC:30521

Genetic variants

See also Ensembl:ENST00000440501