SLC19A1

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SLC19A1
Identifiers
Aliases SLC19A1, CHMD, FOLT, IFC1, REFC, RFC1, solute carrier family 19 member 1
External IDs MGI: 103182 HomoloGene: 57139 GeneCards: 6573
RNA expression pattern
PBB GE SLC19A1 209775 x at tn.png

PBB GE SLC19A1 209776 s at tn.png

PBB GE SLC19A1 211576 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001205206
NM_001205207
NM_003056
NM_194255

NM_001199271
NM_031196

RefSeq (protein)

NP_001192135.1
NP_001192136.1
NP_919231.1

NP_001186200.1
NP_112473.1

Location (UCSC) Chr 21: 45.49 – 45.54 Mb Chr 10: 77.03 – 77.06 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Solute carrier family 19 (folate transporter), member 1, also known as SLC19A1 or RFC1, is a protein which in humans is encoded by the SLC19A1 gene.[1]

Function[edit]

Transport of folate compounds into mammalian cells can occur via receptor-mediated (see folate receptor 1) or carrier-mediated mechanisms. A functional coordination between these 2 mechanisms has been proposed to be the method of folate uptake in certain cell types. Methotrexate (MTX) is an antifolate chemotherapeutic agent that is actively transported by the carrier-mediated uptake system. RFC1 plays a role in maintaining intracellular concentrations of folate.[2]

Clinical significance[edit]

Individuals carrying a specific polymorphism of SLC19A1 (c.80GG) have lower levels of folate.[3] Other studies have also shown that individuals carrying the c.80AA polymrophism who are treated with methotrexate have higher levels of this anti-folate chemotherapeutic agent. Personalized dosing of the drug depending on the patient's genotype may therefore be required.

See also[edit]

References[edit]

  1. ^ Lapenta V; Sossi V; Gosset P; Vayssettes C; Vitali T; Rabatel N; Tassone F; Blouin JL; Scott HS; Antonarakis SE; Créau N; Brahe C (April 1998). "Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3". Genomics 49 (1): 1–13. doi:10.1006/geno.1997.5185. PMID 9570943. 
  2. ^ "Entrez Gene: SLC19A1 solute carrier family 19 (folate transporter), member 1". 
  3. ^ Stanisławska-Sachadyn A; Mitchell LE; Woodside JV; Buckley PT; Kealey C; Young IS; Scott JM; Murray L; Boreham CA; McNulty H; Strain JJ; Whitehead AS (September 2009). "The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women". Ann. Hum. Genet. 73 (Pt 5): 484–491. doi:10.1111/j.1469-1809.2009.00529.x. PMC 2812009. PMID 19650776. Lay summaryPGxNews.Org. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.