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
Gene location (Human) Chr. X chromosome (human) [1] Band Xq28 Start 153,687,926 bp [1] End 153,696,588 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X A7.3|X 37.38 cM Start 72,716,756 bp [2] End 72,726,108 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior olivary nucleus optic nerve gastrocnemius muscle left ventricle postcentral gyrus external globus pallidus Region I of hippocampus proper inferior ganglion of vagus nerve parotid gland ventral tegmental area Top expressed in seminal vesicula left colon duodenum ileum myocardium of ventricle lip jejunum digastric muscle pontine nuclei esophagus More reference expression data BioGPS 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 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 NP_001136278 NP_005620 NP_001136281 NP_001136282 NP_598748 Location (UCSC) Chr X: 153.69 – 153.7 Mb Chr X: 72.72 – 72.73 Mb PubMed search [3] [4]
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.

See also

• Sodium:neurotransmitter symporter
• Solute carrier family

References

1. GRCh38: Ensembl release 89: ENSG00000130821 - Ensembl, May 2017
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.
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.
6. "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. 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.