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Identification
HMDB Protein ID HMDBP02873
Secondary Accession Numbers
  • 8380
  • HMDBP06064
  • HMDBP10741
Name Sodium- and chloride-dependent creatine transporter 1
Synonyms
  1. CT1
  2. Creatine transporter 1
  3. Solute carrier family 6 member 8
Gene Name SLC6A8
Protein Type Unknown
Biological Properties
General Function Involved in neurotransmitter:sodium symporter activity
Specific Function Required for the uptake of creatine in muscles and brain.
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
cellular nitrogen compound metabolic process
muscle contraction
creatine metabolic process
Cellular Component
plasma membrane
integral to membrane
integral to plasma membrane
Component
integral to plasma membrane
membrane
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
neurotransmitter transporter activity
neurotransmitter:sodium symporter activity
cofactor transporter activity
creatine transporter activity
creatine:sodium symporter activity
transmembrane transporter activity
transporter activity
Molecular Function
neurotransmitter:sodium symporter activity
creatine:sodium symporter activity
choline transmembrane transporter activity
Process
establishment of localization
transport
neurotransmitter transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location X
Locus Xq28
SNPs SLC6A8
Gene Sequence
>1908 bp
ATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGC
CCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTG
GGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGAC
TTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTAC
CTGTGCTACAAGAACGGCGGAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTT
GGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGC
ATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGCCTGGGCTACGCCTCCATGGTGATC
GTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTC
AAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGAC
TGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGT
GACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGAACAAAGTCTTGAGG
CTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTG
GCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGATC
GTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTG
CTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTG
GGGTCCCCTCAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGC
CTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGGAC
GCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTC
TCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCA
GGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCA
CTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGTTTGTA
GGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGT
TTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCC
ATGGTGACTGATGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGC
ACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGAGCT
GACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAA
TGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGGCATCTTCATCTTCAACGTTGTG
TACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATG
GGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTC
CTCAGGGCCAAGGGCACCATGGCTGAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGC
CTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACC
CCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGA
Protein Properties
Number of Residues 635
Molecular Weight 69483.91
Theoretical pI 6.42
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Sodium- and chloride-dependent creatine transporter 1
MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMD
FIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGS
INVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPD
CVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL
ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL
GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVF
SILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFV
GVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASG
TTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVV
YYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWG
LHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM
GenBank ID Protein 15214460
UniProtKB/Swiss-Prot ID P48029
UniProtKB/Swiss-Prot Entry Name SC6A8_HUMAN
PDB IDs Not Available
GenBank Gene ID BC012355
GeneCard ID SLC6A8
GenAtlas ID SLC6A8
HGNC ID HGNC:11055
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. doi: 10.1016/j.molcel.2008.07.007. [PubMed:18691976 ]
  3. Nash SR, Giros B, Kingsmore SF, Rochelle JM, Suter ST, Gregor P, Seldin MF, Caron MG: Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Receptors Channels. 1994;2(2):165-74. [PubMed:7953292 ]
  4. Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, Horvath R, Nguyen M, Waite S, Roeske WR, et al.: The cloning and expression of a human creatine transporter. Biochem Biophys Res Commun. 1994 Oct 14;204(1):419-27. [PubMed:7945388 ]
  5. Sandoval N, Bauer D, Brenner V, Coy JF, Drescher B, Kioschis P, Korn B, Nyakatura G, Poustka A, Reichwald K, Rosenthal A, Platzer M: The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. Genomics. 1996 Jul 15;35(2):383-5. [PubMed:8661155 ]
  6. Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE: 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. 2002 May;70(5):1349-56. Epub 2002 Mar 15. [PubMed:11898126 ]
  7. Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G: X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol. 2002 Aug;52(2):227-31. [PubMed:12210795 ]
  8. Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS: High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet. 2004 Jul;75(1):97-105. Epub 2004 May 20. [PubMed:15154114 ]
  9. Martinez-Munoz C, Rosenberg EH, Jakobs C, Salomons GS: Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. Gene. 2008 Jul 15;418(1-2):53-9. doi: 10.1016/j.gene.2008.04.003. Epub 2008 Apr 15. [PubMed:18515020 ]