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 of heart; ; 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.⁵⁶

Clinical significance

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

References

GRCh38: Ensembl release 89: ENSG00000130821 – Ensembl, May 2017
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

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. Bibcode:1994BBRC..204..419S. 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.

[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) ]".

1

2

3

4

5

6

Clinical significance

See also

References

Further reading

External links