Gene:
SLC19A1
solute carrier family 19 (folate transporter), member 1

PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Position ? Drug ? Relevance ? Strength of
Evidence ?
rs1051266 methotrexate more likely to cause hepatotoxicity 2
rs1051266 methotrexate more likely to work 2

Download a summary of all Clinical Annotations available.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(build 132)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs1051266 : 80A>G, His27Arg, RFC-1, SCL19A1:80G>A, SLC19A1:Arg27His, SLC19A1:G80A, c.80A>G, g.3952235T>C, mRNA 199A>G, p.His27Arg T > C Missense His27Arg
VIP No Clinical Annotations available No Variant Annotations available
rs1051296 c.*711T>G, g.114756A>C, g.3929302A>C C/A Not Available
rs1051298 2522C>T, c.*746C>T, g.114721G>A, g.3929267G>A G/A Not Available
rs1131596 c.-43C>A, c.-43C>G, c.-43C>T, g.3952357G>A, g.3952357G>C, g.3952357G>T T/G/C/A Not Available
rs12659 c.696T>C, g.3945997A>G A > G Not Available Pro232Pro
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP build 132

Overview

Alternate Names:  FOLATE TRANSPORTER; FOLT; IFC-1; INTESTINAL FOLATE CARRIER 1; IFC1; REDUCED FOLATE CARRIER 1; RFC1; RFC; Reduced Folate Carrier; SOLUTE CARRIER FAMILY 19, MEMBER 1; SLC19A1; folate transporter 1; homologue of mutant Chinese hamster cell methotrexate uptake deficiency; human reduced folate carrier (RFC); intestinal folate carrier 1; placental folate transporter; reduced folate carrier; reduced folate carrier protein; solute carrier family 19 member 1
Alternate Symbols:  CHMD; FOLT; IFC1; NM_003056.1; REFC; RFC1; SLC19A1
PharmGKB Accession Id: PA327

Details

Cytogenetic Location: chr21 : q22.3 - q22.3
GP mRNA Boundary: chr21 : 46934629 - 46962351
GP Gene Boundary: chr21 : 46931629 - 46972351
Strand: minus
Product Name: No data available
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Methotrexate cellular disposition and effects.
  1. Methotrexate Pathway, Pharmacokinetics
    Diagramatic representation of uptake, transport and elimination of methotrexate.

External Pathways

Links to non-PharmGKB pathways.

  1. Metabolism of folate and pterines - (Reactome via Pathway Interaction Database)

No related genes are available.

Non-Curated Information ?

A list of non-curated publications that mention this gene along with other genes is available.

Curated Information ?

Drug Class Relationship Evidence
antineoplastic agents
  • PD
  •   
Publications
Platinum compounds
  • PD
  •   
Publications

Non-Curated Information ?

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information ?

Non-Curated Information ?

A list of non-curated publications that mention this gene along with other diseases is available.

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