SLC6A8

SLC6A8
Identifiers
Aliases	SLC6A8, CCDS1, CRT, CRTR, CT1, CTR5, solute carrier family 6 member 8
External IDs	MGI: 2147834 HomoloGene: 4113 GeneCards: SLC6A8
Gene ontology Molecular function • creatine:sodium symporter activity • neurotransmitter:sodium symporter activity • creatine transmembrane transporter activity • molecular function • symporter activity Cellular component • membrane • cellular component • plasma membrane • integral component of plasma membrane • integral component of membrane Biological process • muscle contraction • biological process • sodium ion transport • ion transport • transmembrane transport • creatine metabolic process • neurotransmitter transport • creatine transmembrane transport • sodium ion transmembrane transport • creatine transport • transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
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_001136277.1 NP_001136278.1 NP_005620.1	NP_001136281.1 NP_001136282.1 NP_598748.1
Location (UCSC)	Chr X: 153.69 – 153.7 Mb	Chr X: 73.67 – 73.68 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.^[3][4]

See also

• Sodium:neurotransmitter symporter
• Solute carrier family

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. "Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8".

External links

• GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.