SLC6A8: Difference between revisions
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'''Sodium- and chloride-dependent creatine transporter 1''' is a [[protein]] that in humans is encoded by the ''SLC6A8'' [[gene]].<ref name="pmid7774949">{{cite journal | vauthors = Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST | title = Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD | journal = Genomics | volume = 25 | issue = 1 | pages = 332–3 |date=Jul 1995 | pmid = 7774949 | pmc = | doi =10.1016/0888-7543(95)80155-F }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6535| accessdate = }}</ref> | '''Sodium- and chloride-dependent creatine transporter 1''' is a [[protein]] that in humans is encoded by the ''SLC6A8'' [[gene]].<ref name="pmid7774949">{{cite journal | vauthors = Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST | title = Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD | journal = Genomics | volume = 25 | issue = 1 | pages = 332–3 |date=Jul 1995 | pmid = 7774949 | pmc = | doi =10.1016/0888-7543(95)80155-F | url = https://zenodo.org/record/1258611 | format = Submitted manuscript }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6535| accessdate = }}</ref> | ||
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==See also== | ==See also== | ||
* [[Sodium:neurotransmitter symporter]] | * [[Sodium:neurotransmitter symporter]] | ||
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| citations = | | citations = | ||
*{{cite journal | vauthors=Barnwell LF, Chaudhuri G, Townsel JG |title=Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family | *{{cite journal | vauthors=Barnwell LF, Chaudhuri G, Townsel JG |title=Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family |journal=Gene |volume=159 |issue= 2 |pages= 287–8 |year= 1995 |pmid= 7622069 |doi=10.1016/0378-1119(95)00104-E }} | ||
*{{cite journal |vauthors=Sora I, Richman J, Santoro G, etal |title=The cloning and expression of a human creatine transporter | *{{cite journal |vauthors=Sora I, Richman J, Santoro G, etal |title=The cloning and expression of a human creatine transporter |journal=Biochem. Biophys. Res. Commun. |volume=204 |issue= 1 |pages= 419–27 |year= 1994 |pmid= 7945388 |doi=10.1006/bbrc.1994.2475 }} | ||
*{{cite journal |vauthors=Nash SR, Giros B, Kingsmore SF, etal |title=Cloning, pharmacological characterization, and genomic localization of the human creatine transporter | *{{cite journal |vauthors=Nash SR, Giros B, Kingsmore SF, etal |title=Cloning, pharmacological characterization, and genomic localization of the human creatine transporter |journal=Recept. Channels |volume=2 |issue= 2 |pages= 165–74 |year= 1994 |pmid= 7953292 |doi= }} | ||
*{{cite journal |vauthors=Iyer GS, Krahe R, Goodwin LA, etal |title=Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28 | *{{cite journal |vauthors=Iyer GS, Krahe R, Goodwin LA, etal |title=Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28 |journal=Genomics |volume=34 |issue= 1 |pages= 143–6 |year= 1996 |pmid= 8661037 |doi= 10.1006/geno.1996.0254 }} | ||
*{{cite journal |vauthors=Sandoval N, Bauer D, Brenner V, etal |title=The genomic organization of a human creatine transporter (CRTR) gene located in Xq28 | *{{cite journal |vauthors=Sandoval N, Bauer D, Brenner V, etal |title=The genomic organization of a human creatine transporter (CRTR) gene located in Xq28 |journal=Genomics |volume=35 |issue= 2 |pages= 383–5 |year= 1996 |pmid= 8661155 |doi= 10.1006/geno.1996.0373 }} | ||
*{{cite journal | vauthors=Grunau C, Hindermann W, Rosenthal A |title=Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes | *{{cite journal | vauthors=Grunau C, Hindermann W, Rosenthal A |title=Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes |journal=Hum. Mol. Genet. |volume=9 |issue= 18 |pages= 2651–63 |year= 2000 |pmid= 11063724 |doi=10.1093/hmg/9.18.2651 }} | ||
*{{cite journal |vauthors=Salomons GS, van Dooren SJ, Verhoeven NM, etal |title=X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome | *{{cite journal |vauthors=Salomons GS, van Dooren SJ, Verhoeven NM, etal |title=X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1497–500 |year= 2001 |pmid= 11326334 |doi=10.1086/320595 | pmc=1226136 }} | ||
*{{cite journal |vauthors=Hahn KA, Salomons GS, Tackels-Horne D, etal |title=X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 | *{{cite journal |vauthors=Hahn KA, Salomons GS, Tackels-Horne D, etal |title=X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 |journal=Am. J. Hum. Genet. |volume=70 |issue= 5 |pages= 1349–56 |year= 2002 |pmid= 11898126 |doi=10.1086/340092 | pmc=447610 }} | ||
*{{cite journal |vauthors=Bizzi A, Bugiani M, Salomons GS, etal |title=X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8 | *{{cite journal |vauthors=Bizzi A, Bugiani M, Salomons GS, etal |title=X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8 |journal=Ann. Neurol. |volume=52 |issue= 2 |pages= 227–31 |year= 2002 |pmid= 12210795 |doi= 10.1002/ana.10246 }} | ||
*{{cite journal | vauthors=Wang W, Shang LH, Jacobs DO |title=Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis | *{{cite journal | vauthors=Wang W, Shang LH, Jacobs DO |title=Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis |journal=Surgery |volume=132 |issue= 2 |pages= 334–40 |year= 2002 |pmid= 12219031 |doi=10.1067/msy.2002.125312 }} | ||
*{{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 | *{{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 }} | ||
*{{cite journal |vauthors=Rosenberg EH, Almeida LS, Kleefstra T, etal |title=High prevalence of SLC6A8 deficiency in X-linked mental retardation | *{{cite journal |vauthors=Rosenberg EH, Almeida LS, Kleefstra T, etal |title=High prevalence of SLC6A8 deficiency in X-linked mental retardation |journal=Am. J. Hum. Genet. |volume=75 |issue= 1 |pages= 97–105 |year= 2004 |pmid= 15154114 |doi= 10.1086/422102 | pmc=1182013 }} | ||
*{{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) | *{{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=Shojaiefard M, Christie DL, Lang F |title=Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3 | *{{cite journal | vauthors=Shojaiefard M, Christie DL, Lang F |title=Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3 |journal=Biochem. Biophys. Res. Commun. |volume=334 |issue= 3 |pages= 742–6 |year= 2006 |pmid= 16036218 |doi= 10.1016/j.bbrc.2005.06.164 }} | ||
*{{cite journal | vauthors=Dodd JR, Christie DL |title=Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway | *{{cite journal | vauthors=Dodd JR, Christie DL |title=Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway |journal=J. Biol. Chem. |volume=280 |issue= 38 |pages= 32649–54 |year= 2005 |pmid= 16049011 |doi= 10.1074/jbc.M506723200 }} | ||
*{{cite journal |vauthors=Schiaffino MC, Bellini C, Costabello L, etal |title=X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation | *{{cite journal |vauthors=Schiaffino MC, Bellini C, Costabello L, etal |title=X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation |journal=Neurogenetics |volume=6 |issue= 3 |pages= 165–8 |year= 2006 |pmid= 16086185 |doi= 10.1007/s10048-005-0002-4 }} | ||
*{{cite journal |vauthors=Clark AJ, Rosenberg EH, Almeida LS, etal |title=X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology | *{{cite journal |vauthors=Clark AJ, Rosenberg EH, Almeida LS, etal |title=X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology |journal=Hum. Genet. |volume=119 |issue= 6 |pages= 604–10 |year= 2006 |pmid= 16738945 |doi= 10.1007/s00439-006-0162-9 }} | ||
}} | }} | ||
{{refend}} | {{refend}} | ||
Latest revision as of 22:54, 7 January 2019
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Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.[1][2]
See also
References
- ↑ Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST (Jul 1995). "Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD" (Submitted manuscript). Genomics. 25 (1): 332–3. doi:10.1016/0888-7543(95)80155-F. PMID 7774949.
- ↑ "Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8".
External links
Further reading
- Barnwell LF, Chaudhuri G, Townsel JG (1995). "Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family". Gene. 159 (2): 287–8. doi:10.1016/0378-1119(95)00104-E. PMID 7622069.
- Sora I, Richman J, Santoro G, et al. (1994). "The cloning and expression of a human creatine transporter". Biochem. Biophys. Res. Commun. 204 (1): 419–27. doi:10.1006/bbrc.1994.2475. PMID 7945388.
- Nash SR, Giros B, Kingsmore SF, et al. (1994). "Cloning, pharmacological characterization, and genomic localization of the human creatine transporter". Recept. Channels. 2 (2): 165–74. PMID 7953292.
- Iyer GS, Krahe R, Goodwin LA, et al. (1996). "Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28". Genomics. 34 (1): 143–6. doi:10.1006/geno.1996.0254. PMID 8661037.
- Sandoval N, Bauer D, Brenner V, et al. (1996). "The genomic organization of a human creatine transporter (CRTR) gene located in Xq28". Genomics. 35 (2): 383–5. doi:10.1006/geno.1996.0373. PMID 8661155.
- Grunau C, Hindermann W, Rosenthal A (2000). "Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes". Hum. Mol. Genet. 9 (18): 2651–63. doi:10.1093/hmg/9.18.2651. PMID 11063724.
- Salomons GS, van Dooren SJ, Verhoeven NM, et al. (2001). "X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome". Am. J. Hum. Genet. 68 (6): 1497–500. doi:10.1086/320595. PMC 1226136. PMID 11326334.
- Hahn KA, Salomons GS, Tackels-Horne D, et al. (2002). "X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28". Am. J. Hum. Genet. 70 (5): 1349–56. doi:10.1086/340092. PMC 447610. PMID 11898126.
- Bizzi A, Bugiani M, Salomons GS, et al. (2002). "X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8". Ann. Neurol. 52 (2): 227–31. doi:10.1002/ana.10246. PMID 12210795.
- Wang W, Shang LH, Jacobs DO (2002). "Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis". Surgery. 132 (2): 334–40. doi:10.1067/msy.2002.125312. PMID 12219031.
- 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.
- Rosenberg EH, Almeida LS, Kleefstra T, et al. (2004). "High prevalence of SLC6A8 deficiency in X-linked mental retardation". Am. J. Hum. Genet. 75 (1): 97–105. doi:10.1086/422102. PMC 1182013. PMID 15154114.
- 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.
- Shojaiefard M, Christie DL, Lang F (2006). "Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3". Biochem. Biophys. Res. Commun. 334 (3): 742–6. doi:10.1016/j.bbrc.2005.06.164. PMID 16036218.
- Dodd JR, Christie DL (2005). "Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway". J. Biol. Chem. 280 (38): 32649–54. doi:10.1074/jbc.M506723200. PMID 16049011.
- Schiaffino MC, Bellini C, Costabello L, et al. (2006). "X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation". Neurogenetics. 6 (3): 165–8. doi:10.1007/s10048-005-0002-4. PMID 16086185.
- Clark AJ, Rosenberg EH, Almeida LS, et al. (2006). "X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology". Hum. Genet. 119 (6): 604–10. doi:10.1007/s00439-006-0162-9. PMID 16738945.
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