| 释义 |
- Function
- Pathology
- References
- Further reading
- External links
{{Infobox_gene}}SLC46A1, (solute carrier family 46 member 1), is the gene in humans that enodes the protein proton-coupled folate transporter.[1][2][3]FunctionSLC46A1 is responsible for the intestinal uptake of folate.[4] PathologyMutations of SLC46A1 can cause cerebral folate deficiency.[5] References1. ^{{cite web | title = Entrez Gene: PCFT proton-coupled folate transporter| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=113235| accessdate = }}
2. ^{{cite journal | vauthors = 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 | title = Identification of an intestinal heme transporter | journal = Cell | volume = 122 | issue = 5 | pages = 789–801 |date=September 2005 | pmid = 16143108 | doi = 10.1016/j.cell.2005.06.025 | url = | issn = }}
3. ^{{cite journal | vauthors = Sharma S, Dimasi D, Bröer S, Kumar R, Della NG | title = Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium | journal = Exp. Cell Res. | volume = 313 | issue = 6 | pages = 1251–9 |date=April 2007 | pmid = 17335806 | doi = 10.1016/j.yexcr.2007.01.019 | url = | issn = }}
4. ^{{cite journal | vauthors = Nakai Y, Inoue K, Abe N, Hatakeyama M, Ohta KY, Otagiri M, Hayashi Y, Yuasa H | title = Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter | journal = J. Pharmacol. Exp. Ther. | volume = 322 | issue = 2 | pages = 469–76 |date=August 2007 | pmid = 17475902 | doi = 10.1124/jpet.107.122606 | url = | issn = }}
5. ^{{cite journal | vauthors = Zheng Y, Cantley LC | title = Toward a better understanding of folate metabolism in health and disease | journal = The Journal of Experimental Medicine | volume = 216 | issue = 2 | pages = 253–266 | date = February 2019 | pmid = 30587505 | pmc = 6363433 | doi = 10.1084/jem.20181965 | url = }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Subramanian VS, Marchant JS, Said HM |title=Apical membrane targeting and trafficking of the human proton-coupled transporter in polarized epithelia. |journal=Am. J. Physiol., Cell Physiol. |volume=294 |issue= 1 |pages= C233–40 |year= 2008 |pmid= 18003745 |doi= 10.1152/ajpcell.00468.2007 }}
- {{cite journal |vauthors=Nakai Y, Inoue K, Abe N, etal |title=Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter. |journal=J. Pharmacol. Exp. Ther. |volume=322 |issue= 2 |pages= 469–76 |year= 2007 |pmid= 17475902 |doi= 10.1124/jpet.107.122606 }}
- {{cite journal |vauthors=Zhao R, Min SH, Qiu A, etal |title=The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. |journal=Blood |volume=110 |issue= 4 |pages= 1147–52 |year= 2007 |pmid= 17446347 |doi= 10.1182/blood-2007-02-077099 | pmc=1939898 }}
- {{cite journal |vauthors=Sharma S, Dimasi D, Bröer S, etal |title=Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium. |journal=Exp. Cell Res. |volume=313 |issue= 6 |pages= 1251–9 |year= 2007 |pmid= 17335806 |doi= 10.1016/j.yexcr.2007.01.019 }}
- {{cite journal | vauthors=Latunde-Dada GO, Takeuchi K, Simpson RJ, McKie AT |title=Haem carrier protein 1 (HCP1): Expression and functional studies in cultured cells. |journal=FEBS Lett. |volume=580 |issue= 30 |pages= 6865–70 |year= 2007 |pmid= 17156779 |doi= 10.1016/j.febslet.2006.11.048 }}
- {{cite journal |vauthors=Qiu A, Jansen M, Sakaris A, etal |title=Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. |journal=Cell |volume=127 |issue= 5 |pages= 917–28 |year= 2007 |pmid= 17129779 |doi= 10.1016/j.cell.2006.09.041 }}
- {{cite journal |vauthors=Shayeghi M, Latunde-Dada GO, Oakhill JS, etal |title=Identification of an intestinal heme transporter. |journal=Cell |volume=122 |issue= 5 |pages= 789–801 |year= 2005 |pmid= 16143108 |doi= 10.1016/j.cell.2005.06.025 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
{{refend}}{{Membrane transport proteins}}External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=folate-mal GeneReview/NIH/UW entry on Hereditary Folate Malabsorption]
{{DEFAULTSORT:Slc46a1}}{{gene-17-stub}} 1 : Solute carrier family |