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Sodium- and chloride-dependent creatine transporter 1

January 01, 1970

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.[5][6]

SLC6A8
Identifiers
AliasesSLC6A8, CCDS1, CRT, CRTR, CT1, CTR5, solute carrier family 6 member 8
External IDsOMIM: 300036 MGI: 2147834 HomoloGene: 4113 GeneCards: SLC6A8
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

Clinical significance edit

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

See also edit

References edit

  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. ^ 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 edit

  • 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 edit

  • 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.

January 01, 1970
sodium, chloride, dependent, creatine, transporter, protein, that, humans, encoded, slc6a8, gene, slc6a8identifiersaliasesslc6a8, ccds1, crtr, ctr5, solute, carrier, family, member, 8external, idsomim, 300036, 2147834, homologene, 4113, genecards, slc6a8gene, . Sodium and chloride dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene 5 6 SLC6A8IdentifiersAliasesSLC6A8 CCDS1 CRT CRTR CT1 CTR5 solute carrier family 6 member 8External IDsOMIM 300036 MGI 2147834 HomoloGene 4113 GeneCards SLC6A8Gene location Human Chr X chromosome human 1 BandXq28Start153 687 926 bp 1 End153 696 588 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX A7 3 X 37 38 cMStart72 716 756 bp 2 End72 726 108 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ininferior olivary nucleusoptic nervegastrocnemius muscleleft ventriclepostcentral gyrusexternal globus pallidusRegion I of hippocampus properinferior ganglion of vagus nerveparotid glandventral tegmental areaTop expressed inseminal vesiculaleft colonduodenumileummyocardium of ventriclelipjejunumdigastric musclepontine nucleiesophagusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionneurotransmitter sodium symporter activity creatine transmembrane transporter activity symporter activity creatine sodium symporter activity molecular function choline transmembrane transporter activityCellular componentmembrane plasma membrane integral component of plasma membrane integral component of membrane glutamatergic synapse integral component of postsynaptic membraneBiological processmuscle contraction sodium ion transport ion transport creatine metabolic process neurotransmitter transport creatine transmembrane transport choline transport embryonic brain developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez6535102857EnsemblENSG00000130821ENSMUSG00000019558UniProtP48029Q8VBW1RefSeq mRNA NM 005629NM 001142805NM 001142806NM 001142809NM 001142810NM 133987RefSeq protein NP 001136277NP 001136278NP 005620NP 001136281NP 001136282NP 598748Location UCSC Chr X 153 69 153 7 MbChr X 72 72 72 73 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Clinical significance 2 See also 3 References 4 Further reading 5 External linksClinical significance editMutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1 See also editSodium neurotransmitter symporter Solute carrier familyReferences edit 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 Further reading editBarnwell 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 editGeneReviews 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 nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Sodium and chloride dependent creatine transporter 1 amp oldid 1187980276, wikipedia, wiki, book, books, library,

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