Sodium- and chloride-dependent creatine transporter 1: Difference between revisions
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{{Short description|Protein-coding gene in the species Homo sapiens}} |
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{{Infobox_gene}} |
{{Infobox_gene}} |
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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 |
'''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 | doi =10.1016/0888-7543(95)80155-F | url = https://zenodo.org/record/1258611 }}</ref><ref name="entrez">{{cite web | title = SLC6A8 solute carrier family 6 member 8 [ Homo sapiens (human) ]| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6535}}</ref> |
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== Clinical significance == |
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Mutations of the SLC6A8 gene can cause [[cerebral creatine deficiency syndrome 1]]. |
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==See also== |
==See also== |
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*{{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=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 |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=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 |journal=Recept. Channels |volume=2 |issue= 2 |pages= 165–74 |year= 1994 |pmid= 7953292 |
*{{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 }} |
||
*{{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=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 |journal=Genomics |volume=35 |issue= 2 |pages= 383–5 |year= 1996 |pmid= 8661155 |doi= 10.1006/geno.1996.0373 }} |
*{{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 |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=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 |doi-access= }} |
||
*{{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=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 |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=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 |journal=Ann. Neurol. |volume=52 |issue= 2 |pages= 227–31 |year= 2002 |pmid= 12210795 |doi= 10.1002/ana.10246 }} |
*{{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 |s2cid=6557065 }} |
||
*{{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=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 |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=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 |bibcode=2002PNAS...9916899M |doi-access=free }} |
||
*{{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=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) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} |
*{{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 |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=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 |journal=J. Biol. Chem. |volume=280 |issue= 38 |pages= 32649–54 |year= 2005 |pmid= 16049011 |doi= 10.1074/jbc.M506723200 }} |
*{{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 |doi-access= free }} |
||
*{{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=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 |s2cid=3045047 }} |
||
*{{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 }} |
*{{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 |s2cid=24863202 }} |
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{{refend}} |
{{refend}} |
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Latest revision as of 17:46, 2 December 2023
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| Aliases | SLC6A8, CCDS1, CRT, CRTR, CT1, CTR5, solute carrier family 6 member 8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300036; MGI: 2147834; HomoloGene: 4113; GeneCards: SLC6A8; OMA:SLC6A8 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.[5][6]
Clinical significance[edit]
Mutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1.
See also[edit]
References[edit]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000130821 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019558 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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". Genomics. 25 (1): 332–3. doi:10.1016/0888-7543(95)80155-F. PMID 7774949.
- ^ "SLC6A8 solute carrier family 6 member 8 [ Homo sapiens (human) ]".
Further reading[edit]
- 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. S2CID 6557065.
- 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. Bibcode:2002PNAS...9916899M. 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. S2CID 3045047.
- 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. S2CID 24863202.
External links[edit]
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