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	Wikidata
View/Edit Human

Solute carrier family 46 (folate transporter), member 1 (SLC46A1) also known as proton-coupled folate transporter (PCFT), is a protein which in humans is encoded by the SLC46A1 gene.^[1]^[2]^[3]

Function[edit | edit source]

SLC46A1 is responsible for the intestinal uptake of folate.^[4]

Pathology[edit | edit source]

Mutations of SLC46A1 can cause cerebral folate deficiency.

References[edit | edit source]

↑ "Entrez Gene: PCFT proton-coupled folate transporter".
↑ Shayeghi M, Latunde-Dada GO, Oakhill JS, Laftah AH, Takeuchi K, Halliday N, Khan Y, Warley A, McCann FE, Hider RC, Frazer DM, Anderson GJ, Vulpe CD, Simpson RJ, McKie AT (September 2005). "Identification of an intestinal heme transporter". Cell. 122 (5): 789–801. doi:10.1016/j.cell.2005.06.025. PMID 16143108.
↑ Sharma S, Dimasi D, Bröer S, Kumar R, Della NG (April 2007). "Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium". Exp. Cell Res. 313 (6): 1251–9. doi:10.1016/j.yexcr.2007.01.019. PMID 17335806.
↑ Nakai Y, Inoue K, Abe N, Hatakeyama M, Ohta KY, Otagiri M, Hayashi Y, Yuasa H (August 2007). "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. 322 (2): 469–76. doi:10.1124/jpet.107.122606. PMID 17475902.

Further reading[edit | edit source]

Subramanian VS, Marchant JS, Said HM (2008). "Apical membrane targeting and trafficking of the human proton-coupled transporter in polarized epithelia". Am. J. Physiol., Cell Physiol. 294 (1): C233–40. doi:10.1152/ajpcell.00468.2007. PMID 18003745.
Nakai Y, Inoue K, Abe N, et al. (2007). "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. 322 (2): 469–76. doi:10.1124/jpet.107.122606. PMID 17475902.
Zhao R, Min SH, Qiu A, et al. (2007). "The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption". Blood. 110 (4): 1147–52. doi:10.1182/blood-2007-02-077099. PMC 1939898. PMID 17446347.
Sharma S, Dimasi D, Bröer S, et al. (2007). "Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium". Exp. Cell Res. 313 (6): 1251–9. doi:10.1016/j.yexcr.2007.01.019. PMID 17335806.
Latunde-Dada GO, Takeuchi K, Simpson RJ, McKie AT (2007). "Haem carrier protein 1 (HCP1): Expression and functional studies in cultured cells". FEBS Lett. 580 (30): 6865–70. doi:10.1016/j.febslet.2006.11.048. PMID 17156779.
Qiu A, Jansen M, Sakaris A, et al. (2007). "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption". Cell. 127 (5): 917–28. doi:10.1016/j.cell.2006.09.041. PMID 17129779.
Shayeghi M, Latunde-Dada GO, Oakhill JS, et al. (2005). "Identification of an intestinal heme transporter". Cell. 122 (5): 789–801. doi:10.1016/j.cell.2005.06.025. PMID 16143108.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

External links[edit | edit source]

GeneReview/NIH/UW entry on Hereditary Folate Malabsorption

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[entrez-1] "Entrez Gene: PCFT proton-coupled folate transporter".

[pmid16143108-2] Shayeghi M, Latunde-Dada GO, Oakhill JS, Laftah AH, Takeuchi K, Halliday N, Khan Y, Warley A, McCann FE, Hider RC, Frazer DM, Anderson GJ, Vulpe CD, Simpson RJ, McKie AT (September 2005). "Identification of an intestinal heme transporter". Cell. 122 (5): 789–801. doi:10.1016/j.cell.2005.06.025. PMID 16143108.

[pmid17335806-3] Sharma S, Dimasi D, Bröer S, Kumar R, Della NG (April 2007). "Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium". Exp. Cell Res. 313 (6): 1251–9. doi:10.1016/j.yexcr.2007.01.019. PMID 17335806.

[pmid17475902-4] Nakai Y, Inoue K, Abe N, Hatakeyama M, Ohta KY, Otagiri M, Hayashi Y, Yuasa H (August 2007). "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. 322 (2): 469–76. doi:10.1124/jpet.107.122606. PMID 17475902.

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