Sodium- and chloride-dependent creatine transporter 1: Difference between revisions

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{{PBB_Further_reading
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| citations =
| citations =
*{{cite journal | author=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= }}
*{{cite journal | author=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= }}
*{{cite journal | author=Gregor P, Nash SR, Caron MG, ''et al.'' |title=Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. |journal=Genomics |volume=25 |issue= 1 |pages= 332-3 |year= 1995 |pmid= 7774949 |doi= }}
*{{cite journal | author=Gregor P, Nash SR, Caron MG, ''et al.'' |title=Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. |journal=Genomics |volume=25 |issue= 1 |pages= 332–3 |year= 1995 |pmid= 7774949 |doi= }}
*{{cite journal | author=Sora I, Richman J, Santoro G, ''et al.'' |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= }}
*{{cite journal | author=Sora I, Richman J, Santoro G, ''et al.'' |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= }}
*{{cite journal | author=Nash SR, Giros B, Kingsmore SF, ''et al.'' |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 | author=Nash SR, Giros B, Kingsmore SF, ''et al.'' |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 | author=Iyer GS, Krahe R, Goodwin LA, ''et al.'' |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 | author=Iyer GS, Krahe R, Goodwin LA, ''et al.'' |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 | author=Sandoval N, Bauer D, Brenner V, ''et al.'' |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 | author=Sandoval N, Bauer D, Brenner V, ''et al.'' |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 | author=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= }}
*{{cite journal | author=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= }}
*{{cite journal | author=Salomons GS, van Dooren SJ, Verhoeven NM, ''et al.'' |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= }}
*{{cite journal | author=Salomons GS, van Dooren SJ, Verhoeven NM, ''et al.'' |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= }}
*{{cite journal | author=Hahn KA, Salomons GS, Tackels-Horne D, ''et al.'' |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= }}
*{{cite journal | author=Hahn KA, Salomons GS, Tackels-Horne D, ''et al.'' |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= }}
*{{cite journal | author=Bizzi A, Bugiani M, Salomons GS, ''et al.'' |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 | author=Bizzi A, Bugiani M, Salomons GS, ''et al.'' |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 | author=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= }}
*{{cite journal | author=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= }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{cite journal | author=Rosenberg EH, Almeida LS, Kleefstra T, ''et al.'' |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 }}
*{{cite journal | author=Rosenberg EH, Almeida LS, Kleefstra T, ''et al.'' |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 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{cite journal | author=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 | author=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 | author=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 | author=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 | author=Schiaffino MC, Bellini C, Costabello L, ''et al.'' |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 | author=Schiaffino MC, Bellini C, Costabello L, ''et al.'' |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 | author=Clark AJ, Rosenberg EH, Almeida LS, ''et al.'' |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 | author=Clark AJ, Rosenberg EH, Almeida LS, ''et al.'' |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 }}
}}
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Revision as of 09:20, 11 June 2008

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SLC6A8
Identifiers
AliasesSLC6A8, CCDS1, CRT, CRTR, CT1, CTR5, solute carrier family 6 member 8
External IDsOMIM: 300036; MGI: 2147834; HomoloGene: 4113; GeneCards: SLC6A8; OMA:SLC6A8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

6535

102857

Ensembl

ENSG00000130821

ENSMUSG00000019558

UniProt

P48029

Q8VBW1

RefSeq (mRNA)

NM_005629
NM_001142805
NM_001142806

NM_001142809
NM_001142810
NM_133987

RefSeq (protein)

NP_001136277
NP_001136278
NP_005620

NP_001136281
NP_001136282
NP_598748

Location (UCSC)Chr X: 153.69 – 153.7 MbChr X: 72.72 – 72.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 6 (neurotransmitter transporter, creatine), member 8, also known as SLC6A8, is a human gene.[5]

Template:PBB Summary

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130821 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019558 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8".

Further reading

Template:PBB Further reading

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