• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens solute carrier family 6 (neurotransmitter transporter), member 8 (SLC6A8), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu27787 Homo sapiens solute carrier family 6 (neurotransmitter transporter), member 8 (SLC6A8), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu27787C Homo sapiens solute carrier family 6 (neurotransmitter transporter), member 8 (SLC6A8), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001142805.1, 218563755
Length 1878 bp
Structure linear
Update Date 01-JUN-2014
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 6 (neurotransmitter transporter), member 8 (SLC6A8), transcript variant 2, mRNA.
Product sodium- and chloride-dependent creatine transporter 1 isoform 2
Comment

Summary: The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].


Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks a 10-aa segment but has the same N- and C-termini, compared to isoform 1.

RefSeq NP_001136277.1
CDS 279..2156
Misc Feature(1)219..221
Misc Feature(2)402..404
Misc Feature(3)402..404
Misc Feature(4)432..2111
Misc Feature(5)459..521
Misc Feature(6)order(477..479,486..488,1485..1487,1494..1499)
Misc Feature(7)540..602
Misc Feature(8)693..755
Misc Feature(9)969..1031
Misc Feature(10)1086..1148
Misc Feature(11)1191..1253
Misc Feature(12)1431..1493
Misc Feature(13)1581..1643
Misc Feature(14)1686..1748
Misc Feature(15)1809..1871
Misc Feature(16)1929..1991
Exon (1)1..540
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (2)541..672
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (3)673..922
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (4)923..1055
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (5)1056..1190
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (6)1191..1294
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (7)1295..1389
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (8)1390..1502
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (9)1503..1640
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (10)1641..1743
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (11)1744..1844
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (12)1845..2015
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Exon (13)2016..3535
Gene:SLC6A8
Gene Synonym:CCDS1; CRT; CRTR; CT1; CTR5
Translation MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMD FIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGS INVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPD CVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYNGTSFFAGFVVFSILGFMAAEQ GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLL DLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWE CVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNT YVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQD ADVRGLTTLTPVSESSKVVVVESVM
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
12+dbSNP:
12+a, cdbSNP:400512
123+c, tdbSNP:371894
274+a, gdbSNP:384573
537+a, gdbSNP:122453115
560+dbSNP:
560+c, tdbSNP:375818489
564+c, tdbSNP:141438791
599..601+, cttdbSNP:80338739
617+c, tdbSNP:1803332
673+dbSNP:
673+g, tdbSNP:122453117
773+c, tdbSNP:144904949
776+a, gdbSNP:201260657
811+c, gdbSNP:199937648
815+c, tdbSNP:202136567
822+a, gdbSNP:149024147
835+a, gdbSNP:372601430
881+c, tdbSNP:143019641
959+dbSNP:
959+g, tdbSNP:370508642
1058+dbSNP:
1058+c, tdbSNP:148232368
1085+c, tdbSNP:141219551
1086+a, gdbSNP:146985734
1091+c, tdbSNP:138064933
1097+c, tdbSNP:143750068
1103+a, gdbSNP:150579348
1104+c, tdbSNP:138634140
1109+a, gdbSNP:149357346
1158+a, cdbSNP:376937460
1220+c, gdbSNP:144678921
1229+c, tdbSNP:371516458
1230+a, gdbSNP:373953317
1289+c, gdbSNP:122453116
1295+dbSNP:
1295+c, tdbSNP:372928878
1389+c, gdbSNP:122453114
1410+dbSNP:
1410+a, gdbSNP:374163604
1470..1472+, ttcdbSNP:80338740
complement(1519)-dbSNP:
complement(1519)-g, adbSNP:11548960
1522+c, tdbSNP:11548959
1529+c, tdbSNP:368950125
1541+c, tdbSNP:371599516
1619+c, tdbSNP:3179358
1660+dbSNP:
1660+, adbSNP:35880208
1679+a, gdbSNP:1060453
1685+c, tdbSNP:140115896
1700+c, gdbSNP:376421364
1721+c, g, tdbSNP:122453118
1742+c, tdbSNP:143916832
1745+dbSNP:
1745+a, gdbSNP:199640501
1763+a, cdbSNP:151335200
1764+a, gdbSNP:201526436
1788+c, tdbSNP:122453113
1832+a, gdbSNP:201838389
1862+dbSNP:
1862+c, tdbSNP:369726574
1874+c, tdbSNP:140601882
1879+c, tdbSNP:397515558
1892+c, tdbSNP:373130978
1897+c, gdbSNP:199635059
1901+c, tdbSNP:369715906
1902+g, tdbSNP:372567920
1909+c, tdbSNP:397515559
1910+a, gdbSNP:149677083
1922+a, gdbSNP:188180929
1926+a, gdbSNP:145438966
1940+c, g, tdbSNP:201044530
1942+c, tdbSNP:2872523
1962+a, gdbSNP:2872524
1967+a, gdbSNP:2314070
2016+dbSNP:
2016+c, tdbSNP:2314078
2022+a, cdbSNP:2314079
2078+c, tdbSNP:1803330
2079+a, gdbSNP:146949376
2118+a, gdbSNP:368555229
2127+a, cdbSNP:201637740
2136+a, gdbSNP:373570632
2138+c, gdbSNP:376385129
2154+g, tdbSNP:4065272
2159+a, gdbSNP:2314080
2162+c, tdbSNP:371155660
2178+a, cdbSNP:58611639
2212+g, tdbSNP:3861555
2220+c, gdbSNP:3861556
2252+a, gdbSNP:3861557
2272+a, gdbSNP:3850325
2363+c, gdbSNP:6571290
2461+c, tdbSNP:60100462
2627+a, gdbSNP:4532754
2712+a, gdbSNP:2314081
2719+c, tdbSNP:145908010
2727+a, gdbSNP:1811105
2749+c, gdbSNP:370387050
2758+c, tdbSNP:4065268
2759+a, gdbSNP:184055391
2769+a, gdbSNP:374717490
2847+c, tdbSNP:138494557
2900+c, gdbSNP:3969135
3008..3010+, attdbSNP:200806041
3057+a, gdbSNP:3969136
3083+c, tdbSNP:2097220
3104..3105+, tdbSNP:34870027
3109+c, gdbSNP:143048904
3151+a, gdbSNP:188836948
3198+a, gdbSNP:367889260
3292+a, gdbSNP:13120
3324+a, cdbSNP:1803331
complement(3353)-t, gdbSNP:11548961
3383+c, tdbSNP:182097343
3386+c, gdbSNP:4898436
3472+a, gdbSNP:148180779
3501+c, gdbSNP:187134918
Gene SymbolSLC6A8
Gene SynonymCCDS1; CRT; CRTR; CT1; CTR5
ChromosomeX
Locus MapXq28
Title Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing .
Author Ndika JD, Martinez-Munoz C, Anand N, van Dooren SJ, Kanhai W, Smith DE, Jakobs C and Salomons GS.
Journal Biochim. Biophys. Acta 1840 (6), 2070-2079 (2014)
Title Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes .
Author Ndika JD, Lusink V, Beaubrun C, Kanhai W, Martinez-Munoz C, Jakobs
Journal Gene 533 (2), 488-493 (2014)
Title Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism .
Author Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
Journal Nat Commun 5, 3650 (2014)
Title The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation .
Author Puusepp H, Kall K, Salomons GS, Talvik I, Mannamaa M, Rein R, Jakobs C and Ounap K.
Journal J. Inherit. Metab. Dis. 33 (SUPPL 3), S5-S11 (2010)
Title Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family .
Author Barnwell LF, Chaudhuri G and Townsel JG.
Journal Gene 159 (2), 287-288 (1995)
Title Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD .
Author Gregor P, Nash SR, Caron MG, Seldin MF and Warren ST.
Journal Genomics 25 (1), 332-333 (1995)
Title The cloning and expression of a human creatine transporter .
Author Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, Horvath R, Nguyen M, Waite S and Roeske WR.
Journal Biochem. Biophys. Res. Commun. 204 (1), 419-427 (1994)
Title Cloning, pharmacological characterization, and genomic localization of the human creatine transporter .
Author Nash SR, Giros B, Kingsmore SF, Rochelle JM, Suter ST, Gregor P, Seldin MF and Caron MG.
Journal Recept. Channels 2 (2), 165-174 (1994)
Title Creatine Deficiency Syndromes .
Author Mercimek-Mahmutoglu,S., Stockler-Ipsiroglu,S. and Salomons,G.S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.