SLC6A8: Difference between revisions

Jump to navigation Jump to search
Newer edit →
VisualWikitext
WikiBot (talk | contribs)
Bots, Bureaucrats, bureaucrats, interwiki, nocaptcha, Administrators
57,550 edits
m Robot: Automated text replacement (-{{reflist}} +{{reflist|2}}, -<references /> +{{reflist|2}}, -{{WikiDoc Cardiology Network Infobox}} +)
 
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Sodium- and chloride-dependent creatine transporter 1''' is a [[protein]] that in humans is encoded by the ''SLC6A8'' [[gene]].<ref name="pmid7774949">{{cite journal | vauthors = Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST | title = Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD | journal = Genomics | volume = 25 | issue = 1 | pages = 332–3 |date=Jul 1995 | pmid = 7774949 | pmc =  | doi =10.1016/0888-7543(95)80155-F }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6535| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
| HGNCid = 11055
| Symbol = SLC6A8
| AltSymbols =; CT1; CRTR; MGC87396
| OMIM = 300036
| ECnumber =
| Homologene = 4113
| MGIid = 2147834
| GeneAtlas_image1 = PBB_GE_SLC6A8_202219_at_tn.png
| GeneAtlas_image2 = PBB_GE_SLC6A8_210854_x_at_tn.png
  | GeneAtlas_image3 = PBB_GE_SLC6A8_213843_x_at_tn.png
  | Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}} {{GNF_GO|id=GO:0005309 |text = creatine:sodium symporter activity}} {{GNF_GO|id=GO:0005328 |text = neurotransmitter:sodium symporter activity}} {{GNF_GO|id=GO:0015293 |text = symporter activity}} {{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0001504 |text = neurotransmitter uptake}} {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}} {{GNF_GO|id=GO:0006836 |text = neurotransmitter transport}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}} {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6535
    | Hs_Ensembl = ENSG00000130821
    | Hs_RefseqProtein = NP_005620
    | Hs_RefseqmRNA = NM_005629
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 152433472
    | Hs_GenLoc_end = 152615242
    | Hs_Uniprot = P48029
    | Mm_EntrezGene = 102857
    | Mm_Ensembl = ENSMUSG00000019558
    | Mm_RefseqmRNA = NM_133987
    | Mm_RefseqProtein = NP_598748
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 69925870
    | Mm_GenLoc_end = 69935222
    | Mm_Uniprot = Q684J3
  }}
}}
'''Solute carrier family 6 (neurotransmitter transporter, creatine), member 8''', also known as '''SLC6A8''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6535| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =
| summary_text =  
| summary_text =
}}
}}


Line 61: Line 13:


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=creatine  GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes]


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Barnwell LF, Chaudhuri G, Townsel JG |title=Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family. |journal=Gene |volume=159 |issue= 2 |pages= 287-8 |year= 1995 |pmid= 7622069 |doi= }}
*{{cite journal  | vauthors=Barnwell LF, Chaudhuri G, Townsel JG |title=Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family. |journal=Gene |volume=159 |issue= 2 |pages= 287–8 |year= 1995 |pmid= 7622069 |doi=10.1016/0378-1119(95)00104-E }}
*{{cite journal  | author=Gregor P, Nash SR, Caron MG, ''et al.'' |title=Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. |journal=Genomics |volume=25 |issue= 1 |pages= 332-3 |year= 1995 |pmid= 7774949 |doi= }}
*{{cite journal   |vauthors=Sora I, Richman J, Santoro G, etal |title=The cloning and expression of a human creatine transporter. |journal=Biochem. Biophys. Res. Commun. |volume=204 |issue= 1 |pages= 419–27 |year= 1994 |pmid= 7945388 |doi=10.1006/bbrc.1994.2475 }}
*{{cite journal | author=Sora I, Richman J, Santoro G, ''et al.'' |title=The cloning and expression of a human creatine transporter. |journal=Biochem. Biophys. Res. Commun. |volume=204 |issue= 1 |pages= 419-27 |year= 1994 |pmid= 7945388 |doi=  }}
*{{cite journal   |vauthors=Nash SR, Giros B, Kingsmore SF, etal |title=Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. |journal=Recept. Channels |volume=2 |issue= 2 |pages= 165–74 |year= 1994 |pmid= 7953292 |doi=  }}
*{{cite journal | author=Nash SR, Giros B, Kingsmore SF, ''et al.'' |title=Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. |journal=Recept. Channels |volume=2 |issue= 2 |pages= 165-74 |year= 1994 |pmid= 7953292 |doi=  }}
*{{cite journal   |vauthors=Iyer GS, Krahe R, Goodwin LA, etal |title=Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28. |journal=Genomics |volume=34 |issue= 1 |pages= 143–6 |year= 1996 |pmid= 8661037 |doi= 10.1006/geno.1996.0254 }}
*{{cite journal | author=Iyer GS, Krahe R, Goodwin LA, ''et al.'' |title=Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28. |journal=Genomics |volume=34 |issue= 1 |pages= 143-6 |year= 1996 |pmid= 8661037 |doi= 10.1006/geno.1996.0254 }}
*{{cite journal   |vauthors=Sandoval N, Bauer D, Brenner V, etal |title=The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. |journal=Genomics |volume=35 |issue= 2 |pages= 383–5 |year= 1996 |pmid= 8661155 |doi= 10.1006/geno.1996.0373 }}
*{{cite journal | author=Sandoval N, Bauer D, Brenner V, ''et al.'' |title=The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. |journal=Genomics |volume=35 |issue= 2 |pages= 383-5 |year= 1996 |pmid= 8661155 |doi= 10.1006/geno.1996.0373 }}
*{{cite journal  | vauthors=Grunau C, Hindermann W, Rosenthal A |title=Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes. |journal=Hum. Mol. Genet. |volume=9 |issue= 18 |pages= 2651–63 |year= 2000 |pmid= 11063724 |doi=10.1093/hmg/9.18.2651 }}
*{{cite journal  | author=Grunau C, Hindermann W, Rosenthal A |title=Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes. |journal=Hum. Mol. Genet. |volume=9 |issue= 18 |pages= 2651-63 |year= 2000 |pmid= 11063724 |doi=  }}
*{{cite journal   |vauthors=Salomons GS, van Dooren SJ, Verhoeven NM, etal |title=X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1497–500 |year= 2001 |pmid= 11326334 |doi=10.1086/320595  | pmc=1226136 }}
*{{cite journal | author=Salomons GS, van Dooren SJ, Verhoeven NM, ''et al.'' |title=X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1497-500 |year= 2001 |pmid= 11326334 |doi=  }}
*{{cite journal   |vauthors=Hahn KA, Salomons GS, Tackels-Horne D, etal |title=X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. |journal=Am. J. Hum. Genet. |volume=70 |issue= 5 |pages= 1349–56 |year= 2002 |pmid= 11898126 |doi=10.1086/340092  | pmc=447610 }}
*{{cite journal | author=Hahn KA, Salomons GS, Tackels-Horne D, ''et al.'' |title=X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. |journal=Am. J. Hum. Genet. |volume=70 |issue= 5 |pages= 1349-56 |year= 2002 |pmid= 11898126 |doi=  }}
*{{cite journal   |vauthors=Bizzi A, Bugiani M, Salomons GS, etal |title=X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. |journal=Ann. Neurol. |volume=52 |issue= 2 |pages= 227–31 |year= 2002 |pmid= 12210795 |doi= 10.1002/ana.10246 }}
*{{cite journal | author=Bizzi A, Bugiani M, Salomons GS, ''et al.'' |title=X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. |journal=Ann. Neurol. |volume=52 |issue= 2 |pages= 227-31 |year= 2002 |pmid= 12210795 |doi= 10.1002/ana.10246 }}
*{{cite journal  | vauthors=Wang W, Shang LH, Jacobs DO |title=Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis. |journal=Surgery |volume=132 |issue= 2 |pages= 334–40 |year= 2002 |pmid= 12219031 |doi=10.1067/msy.2002.125312 }}
*{{cite journal  | author=Wang W, Shang LH, Jacobs DO |title=Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis. |journal=Surgery |volume=132 |issue= 2 |pages= 334-40 |year= 2002 |pmid= 12219031 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Rosenberg EH, Almeida LS, Kleefstra T, etal |title=High prevalence of SLC6A8 deficiency in X-linked mental retardation. |journal=Am. J. Hum. Genet. |volume=75 |issue= 1 |pages= 97–105 |year= 2004 |pmid= 15154114 |doi= 10.1086/422102 | pmc=1182013 }}
*{{cite journal | author=Rosenberg EH, Almeida LS, Kleefstra T, ''et al.'' |title=High prevalence of SLC6A8 deficiency in X-linked mental retardation. |journal=Am. J. Hum. Genet. |volume=75 |issue= 1 |pages= 97-105 |year= 2004 |pmid= 15154114 |doi= 10.1086/422102 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Shojaiefard M, Christie DL, Lang F |title=Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3. |journal=Biochem. Biophys. Res. Commun. |volume=334 |issue= 3 |pages= 742–6 |year= 2006 |pmid= 16036218 |doi= 10.1016/j.bbrc.2005.06.164 }}
*{{cite journal  | author=Shojaiefard M, Christie DL, Lang F |title=Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3. |journal=Biochem. Biophys. Res. Commun. |volume=334 |issue= 3 |pages= 742-6 |year= 2006 |pmid= 16036218 |doi= 10.1016/j.bbrc.2005.06.164 }}
*{{cite journal  | vauthors=Dodd JR, Christie DL |title=Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway. |journal=J. Biol. Chem. |volume=280 |issue= 38 |pages= 32649–54 |year= 2005 |pmid= 16049011 |doi= 10.1074/jbc.M506723200 }}
*{{cite journal  | author=Dodd JR, Christie DL |title=Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway. |journal=J. Biol. Chem. |volume=280 |issue= 38 |pages= 32649-54 |year= 2005 |pmid= 16049011 |doi= 10.1074/jbc.M506723200 }}
*{{cite journal   |vauthors=Schiaffino MC, Bellini C, Costabello L, etal |title=X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. |journal=Neurogenetics |volume=6 |issue= 3 |pages= 165–8 |year= 2006 |pmid= 16086185 |doi= 10.1007/s10048-005-0002-4 }}
*{{cite journal | author=Schiaffino MC, Bellini C, Costabello L, ''et al.'' |title=X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. |journal=Neurogenetics |volume=6 |issue= 3 |pages= 165-8 |year= 2006 |pmid= 16086185 |doi= 10.1007/s10048-005-0002-4 }}
*{{cite journal   |vauthors=Clark AJ, Rosenberg EH, Almeida LS, etal |title=X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. |journal=Hum. Genet. |volume=119 |issue= 6 |pages= 604–10 |year= 2006 |pmid= 16738945 |doi= 10.1007/s00439-006-0162-9 }}
*{{cite journal | author=Clark AJ, Rosenberg EH, Almeida LS, ''et al.'' |title=X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. |journal=Hum. Genet. |volume=119 |issue= 6 |pages= 604-10 |year= 2006 |pmid= 16738945 |doi= 10.1007/s00439-006-0162-9 }}
}}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
{{DEFAULTSORT:Slc6a8}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Revision as of 06:35, 11 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.[1][2]


See also

References

  1. ↑ 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.
  2. ↑ "Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8".

External links

Further reading

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


Retrieved from "https://www.wikidoc.org/index.php?title=SLC6A8&oldid=1423060"