Reviewed May 2009
What is the official name of the SLC46A1 gene?
The official name of this gene is “solute carrier family 46 (folate transporter), member 1.”
SLC46A1 is the gene's official symbol. The SLC46A1 gene is also known by other names, listed below.
What is the normal function of the SLC46A1 gene?
The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in the process of using energy to move certain B vitamins called folates across the brush border membrane for absorption, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid). Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.
Does the SLC46A1 gene share characteristics with other genes?
The SLC46A1 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the SLC46A1 gene related to health conditions?
- hereditary folate malabsorption - caused by mutations in the SLC46A1 gene
More than 10 mutations in the SLC46A1 gene have been identified in people with hereditary folate malabsorption. These mutations cause the substitution of one protein building block (amino acid) for another amino acid in the PCFT protein, or result in a PCFT protein that is shorter than normal. The mutated PCFT protein has little or no activity. In some cases the abnormal protein is not transported to the cell membrane, and so it is unable to perform its function. PCFT inactivity impairs the body's ability to absorb folates from food, leading to the signs and symptoms of hereditary folate malabsorption.
Where is the SLC46A1 gene located?
Cytogenetic Location: 17q11.2
Molecular Location on chromosome 17: base pairs 28,394,642 to 28,406,212
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/113235))
The SLC46A1 gene is located on the long (q) arm of chromosome 17 at position 11.2.
More precisely, the SLC46A1 gene is located from base pair 28,394,642 to base pair 28,406,212 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SLC46A1?
You and your healthcare professional may find the following resources about SLC46A1 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1673)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SLC46A1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=113235%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28SLC46A1%5BTIAB%5D%29%20OR%20%28%28proton-coupled%20folate%20transporter%5BTIAB%5D%29%20OR%20%28HCP1%5BTIAB%5D%29%20OR%20%28PCFT%5BTIAB%5D%29%20OR%20%28heme%20carrier%20protein%201%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/611672)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SLC46A1.html)
- HGNC Gene Family: Solute carriers (http://www.genenames.org/cgi-bin/genefamilies/set/752)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=30521)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/113235)
What other names do people use for the SLC46A1 gene or gene products?
- heme carrier protein 1
- proton-coupled folate transporter
- solute carrier family 46, member 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SLC46A1?
amino acid ;
brush border ;
cell membrane ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Andrews NC. When is a heme transporter not a heme transporter? When it's a folate transporter. Cell Metab. 2007 Jan;5(1):5-6. (http://www.ncbi.nlm.nih.gov/pubmed/17189201?dopt=Abstract)
- Gene Review: Hereditary Folate Malabsorption (http://www.ncbi.nlm.nih.gov/books/NBK1673)
- Gonen N, Bram EE, Assaraf YG. PCFT/SLC46A1 promoter methylation and restoration of gene expression in human leukemia cells. Biochem Biophys Res Commun. 2008 Nov 28;376(4):787-92. doi: 10.1016/j.bbrc.2008.09.074. Epub 2008 Sep 24. (http://www.ncbi.nlm.nih.gov/pubmed/18817749?dopt=Abstract)
- Ifergan I, Assaraf YG. Molecular mechanisms of adaptation to folate deficiency. Vitam Horm. 2008;79:99-143. doi: 10.1016/S0083-6729(08)00404-4. (http://www.ncbi.nlm.nih.gov/pubmed/18804693?dopt=Abstract)
- Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG. A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Blood. 2008 Sep 1;112(5):2055-61. doi: 10.1182/blood-2008-04-150276. Epub 2008 Jun 17. (http://www.ncbi.nlm.nih.gov/pubmed/18559978?dopt=Abstract)
- Min SH, Oh SY, Karp GI, Poncz M, Zhao R, Goldman ID. The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption. J Pediatr. 2008 Sep;153(3):435-7. doi: 10.1016/j.jpeds.2008.04.009. (http://www.ncbi.nlm.nih.gov/pubmed/18718264?dopt=Abstract)
- Nakai Y, Inoue K, Abe N, Hatakeyama M, Ohta KY, Otagiri M, Hayashi Y, Yuasa H. Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter. J Pharmacol Exp Ther. 2007 Aug;322(2):469-76. Epub 2007 May 2. (http://www.ncbi.nlm.nih.gov/pubmed/17475902?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/113235)
- Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006 Dec 1;127(5):917-28. (http://www.ncbi.nlm.nih.gov/pubmed/17129779?dopt=Abstract)
- OMIM: SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1 (http://omim.org/entry/611672)
- Unal ES, Zhao R, Qiu A, Goldman ID. N-linked glycosylation and its impact on the electrophoretic mobility and function of the human proton-coupled folate transporter (HsPCFT). Biochim Biophys Acta. 2008 Jun;1778(6):1407-14. doi: 10.1016/j.bbamem.2008.03.009. Epub 2008 Mar 20. (http://www.ncbi.nlm.nih.gov/pubmed/18405659?dopt=Abstract)
- Wolf G. Identification of proton-coupled high-affinity human intestinal folate transporter mutated in human hereditary familial folate malabsorption. Nutr Rev. 2007 Dec;65(12 Pt 1):554-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18236695?dopt=Abstract)
- Zhao R, Goldman ID. The molecular identity and characterization of a Proton-coupled Folate Transporter--PCFT; biological ramifications and impact on the activity of pemetrexed. Cancer Metastasis Rev. 2007 Mar;26(1):129-39. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17340171?dopt=Abstract)
- Zhao R, Matherly LH, Goldman ID. Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues. Expert Rev Mol Med. 2009 Jan 28;11:e4. doi: 10.1017/S1462399409000969. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19173758?dopt=Abstract)
- Zhao R, Min SH, Qiu A, Sakaris A, Goldberg GL, Sandoval C, Malatack JJ, Rosenblatt DS, Goldman ID. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood. 2007 Aug 15;110(4):1147-52. Epub 2007 Apr 19. (http://www.ncbi.nlm.nih.gov/pubmed/17446347?dopt=Abstract)
- Zhao R, Qiu A, Tsai E, Jansen M, Akabas MH, Goldman ID. The proton-coupled folate transporter: impact on pemetrexed transport and on antifolates activities compared with the reduced folate carrier. Mol Pharmacol. 2008 Sep;74(3):854-62. doi: 10.1124/mol.108.045443. Epub 2008 Jun 4. (http://www.ncbi.nlm.nih.gov/pubmed/18524888?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.