Sodium- and chloride-dependent creatine transporter 1

SLC6A8
Identifiers
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
Gene location (Human)
Chr.	X chromosome (human)
End	153,696,588 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	72,726,108 bp
RNA expression pattern
	Top expressed in
	inferior olivary nucleus; ; apex of heart; ; mucosa of ileum; ; optic nerve; ; dorsal motor nucleus of vagus nerve; ; muscle of thigh; ; gastrocnemius muscle; ; left ventricle; ; right auricle; ; postcentral gyrus;
	Top expressed in
	seminal vesicula; ; gastrula; ; decidua; ; left colon; ; duodenum; ; ileum; ; myocardium of ventricle; ; lip; ; jejunum; ; digastric muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	neurotransmitter:sodium symporter activity; creatine transmembrane transporter activity; symporter activity; creatine:sodium symporter activity; molecular function; choline transmembrane transporter activity;
Cellular component	membrane; plasma membrane; integral component of plasma membrane; integral component of membrane; glutamatergic synapse; integral component of postsynaptic membrane;
Biological process	muscle contraction; sodium ion transport; ion transport; creatine metabolic process; neurotransmitter transport; creatine transmembrane transport; choline transport; embryonic brain development;
	Sources:Amigo / QuickGO
Orthologs
	6535
	102857
	ENSG00000130821
	ENSMUSG00000019558
	P48029
	Q8VBW1
	NM_005629; NM_001142805; NM_001142806
	NM_001142809; NM_001142810; NM_133987
	NP_001136277; NP_001136278; NP_005620
	NP_001136281; NP_001136282; NP_598748
	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.^[5]^[6]

Clinical significance

Mutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1.

References

^ ^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) ]".

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

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

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

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130821 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid7774949-5] 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.

[entrez-6] "SLC6A8 solute carrier family 6 member 8 [ Homo sapiens (human) ]".

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Sodium- and chloride-dependent creatine transporter 1

Clinical significance

See also

References

Further reading

External links