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SLC6A8 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol SLC6A8
Entrez Gene ID 6535
Full Name solute carrier family 6 member 8
Synonyms CCDS1,CRT,CRTR,CT1,CTR5
General protein information
Preferred Names

solute carrier family 6 member 8

Names

sodium- and chloride-dependent creatine transporter 1
creatine transporter 1
creatine transporter SLC6A8 variant D
solute carrier family 6 (neurotransmitter transporter), member 8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

X

Xq28

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].
Disorder MIM:

300036

Disorder Html: Creatine deficiency syndrome, X-linked, 300352 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_001142806.1 NP_001136278.1 sodium- and chloride-dependent creatine transporter 1 isoform 3
NM_001142805.1 NP_001136277.1 sodium- and chloride-dependent creatine transporter 1 isoform 2
NM_005629.3 NP_005620.1 sodium- and chloride-dependent creatine transporter 1 isoform 1



Pan troglodytes (chimpanzee) SLC6A8 XP_529227.4
Danio rerio (zebrafish) slc6a8 XP_695932.1
Macaca mulatta (rhesus monkey) SLC6A8 XP_001086826.2
Xenopus tropicalis (tropical clawed frog) LOC100489909 XP_004916750.1
Rattus norvegicus (Norway rat) Slc6a8 NP_059044.1
Bos taurus (cattle) SLC6A8 NP_777036.1
Mus musculus (house mouse) Slc6a8 NP_001136281.1
Homo sapiens (human) SLC6A8 NP_005620.1
Canis lupus familiaris (dog) SLC6A8 XP_005642051.1


Related articles in PubMed

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S
Gene565(2)187-91(2015 Jul)

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
Calhoun AR, Raymond GV
American journal of medical genetics. Part A164A(10)2613-7(2014 Oct)

Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
Fezai M, Elvira B, Borras J, Ben-Attia M, Hoseinzadeh Z, Lang F
Kidney & blood pressure research39(6)546-54(2014)

Upregulation of the creatine transporter Slc6A8 by Klotho.
Almilaji A, Sopjani M, Elvira B, Borras J, Dërmaku-Sopjani M, Munoz C, Warsi J, Lang UE, Lang F
Kidney & blood pressure research39(6)516-25(2014)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The present study demonstrated that a novel CRT missense mutation in exon 12 of the SLC6A8 gene (c.1681G>C; p.G561R) causes suppression of creatine transport activity
Title: Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization.

Data suggest that a specific plasma membrane transporter, creatine transporter (SLC6A8), enables cells to incorporate creatine; creatine uptake is controlled by AMP-activated protein kinase, a ubiquitous sensor of energy depletion. [REVIEW]
Title: Creatine biosynthesis and transport in health and disease.

The SLC6A8 c.1654G>T (p.Val552Leu) variant showed low residual creatine uptake activity of 35% of wild type transfected HeLa cells.
Title: Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

Both SPAK and OSR1 are negative regulators of the creatine transporter SLC6A8
Title: Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.

Klotho protein up-regulates the activity of creatine transporter CreaT (Slc6A8) by stabilizing the carrier protein in the cell membrane
Title: Upregulation of the creatine transporter Slc6A8 by Klotho.

The following SLC6A8 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SLC6A8 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu27778 NM_005629.3
Latest version!
Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$219.50-$307.30
$439.00
OHu27780 NM_001142806.1
Latest version!
Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
OHu27787 NM_001142805.1
Latest version!
Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $69.30
$99.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu27778
Clone ID Related Accession (Same CDS sequence) NM_005629.3
Accession Version NM_005629.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1908bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-02-20
Organism Homo sapiens(Human)
Product sodium- and chloride-dependent creatine transporter 1 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC081558.1, L31409.1, U52111.3, CX788315.1, BE207407.1 and CA424985.1. This sequence is a reference standard in the RefSeqGene project. On Dec 20, 2008 this sequence version replaced NM_005629.2. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC081558.1, L31409.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGGCGAAGA AGAGCGCCGA GAACGGCATC TATAGCGTGT CCGGCGACGA GAAGAAGGGC 
CCCCTCATCG CGCCCGGGCC CGACGGGGCC CCGGCCAAGG GCGACGGCCC CGTGGGCCTG
GGGACACCCG GCGGCCGCCT GGCCGTGCCG CCGCGCGAGA CCTGGACGCG CCAGATGGAC
TTCATCATGT CGTGCGTGGG CTTCGCCGTG GGCTTGGGCA ACGTGTGGCG CTTCCCCTAC
CTGTGCTACA AGAACGGCGG AGGTGTGTTC CTTATTCCCT ACGTCCTGAT CGCCCTGGTT
GGAGGAATCC CCATTTTCTT CTTAGAGATC TCGCTGGGCC AGTTCATGAA GGCCGGCAGC
ATCAATGTCT GGAACATCTG TCCCCTGTTC AAAGGCCTGG GCTACGCCTC CATGGTGATC
GTCTTCTACT GCAACACCTA CTACATCATG GTGCTGGCCT GGGGCTTCTA TTACCTGGTC
AAGTCCTTTA CCACCACGCT GCCCTGGGCC ACATGTGGCC ACACCTGGAA CACTCCCGAC
TGCGTGGAGA TCTTCCGCCA TGAAGACTGT GCCAATGCCA GCCTGGCCAA CCTCACCTGT
GACCAGCTTG CTGACCGCCG GTCCCCTGTC ATCGAGTTCT GGGAGAACAA AGTCTTGAGG
CTGTCTGGGG GACTGGAGGT GCCAGGGGCC CTCAACTGGG AGGTGACCCT TTGTCTGCTG
GCCTGCTGGG TGCTGGTCTA CTTCTGTGTC TGGAAGGGGG TCAAATCCAC GGGAAAGATC
GTGTACTTCA CTGCTACATT CCCCTACGTG GTCCTGGTCG TGCTGCTGGT GCGTGGAGTG
CTGCTGCCTG GCGCCCTGGA TGGCATCATT TACTATCTCA AGCCTGACTG GTCAAAGCTG
GGGTCCCCTC AGGTGTGGAT AGATGCGGGG ACCCAGATTT TCTTTTCTTA CGCCATTGGC
CTGGGGGCCC TCACAGCCCT GGGCAGCTAC AACCGCTTCA ACAACAACTG CTACAAGGAC
GCCATCATCC TGGCTCTCAT CAACAGTGGG ACCAGCTTCT TTGCTGGCTT CGTGGTCTTC
TCCATCCTGG GCTTCATGGC TGCAGAGCAG GGCGTGCACA TCTCCAAGGT GGCAGAGTCA
GGGCCGGGCC TGGCCTTCAT CGCCTACCCG CGGGCTGTCA CGCTGATGCC AGTGGCCCCA
CTCTGGGCTG CCCTGTTCTT CTTCATGCTG TTGCTGCTTG GTCTCGACAG CCAGTTTGTA
GGTGTGGAGG GCTTCATCAC CGGCCTCCTC GACCTCCTCC CGGCCTCCTA CTACTTCCGT
TTCCAAAGGG AGATCTCTGT GGCCCTCTGT TGTGCCCTCT GCTTTGTCAT CGATCTCTCC
ATGGTGACTG ATGGCGGGAT GTACGTCTTC CAGCTGTTTG ACTACTACTC GGCCAGCGGC
ACCACCCTGC TCTGGCAGGC CTTTTGGGAG TGCGTGGTGG TGGCCTGGGT GTACGGAGCT
GACCGCTTCA TGGACGACAT TGCCTGTATG ATCGGGTACC GACCTTGCCC CTGGATGAAA
TGGTGCTGGT CCTTCTTCAC CCCGCTGGTC TGCATGGGCA TCTTCATCTT CAACGTTGTG
TACTACGAGC CGCTGGTCTA CAACAACACC TACGTGTACC CGTGGTGGGG TGAGGCCATG
GGCTGGGCCT TCGCCCTGTC CTCCATGCTG TGCGTGCCGC TGCACCTCCT GGGCTGCCTC
CTCAGGGCCA AGGGCACCAT GGCTGAGCGC TGGCAGCACC TGACCCAGCC CATCTGGGGC
CTCCACCACT TGGAGTACCG AGCTCAGGAC GCAGATGTCA GGGGCCTGAC CACCCTGACC
CCAGTGTCCG AGAGCAGCAA GGTCGTCGTG GTGGAGAGTG TCATGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_005620.1
CDS279..2186
Misc Feature(1)219..221
Misc Feature(2)402..404
Misc Feature(3)432..2141
Misc Feature(4)459..521
Misc Feature(5)order(477..479,486..488,1515..1517,1524..1529)
Misc Feature(6)order(480..485,489..500,720..722,1221..1226,1239..1241,1245..1247,1527..1529,1536..1541)
Misc Feature(7)order(483..485,498..500,1224..1226,1320..1322)
Misc Feature(8)order(504..509,717..719,729..731,738..740,1422..1424,1434..1436)
Misc Feature(9)540..602
Misc Feature(10)693..755
Misc Feature(11)969..1031
Misc Feature(12)1086..1148
Misc Feature(13)1191..1253
Misc Feature(14)1302..1364
Misc Feature(15)1461..1523
Misc Feature(16)1611..1673
Misc Feature(17)1716..1778
Misc Feature(18)1839..1901
Misc Feature(19)1920..1922
Misc Feature(20)1959..2021
Misc Feature(21)2136..2138
Misc Feature(22)2145..2147
Exon (1)1..540
Exon (2)541..672
Exon (3)673..922
Exon (4)923..1055
Exon (5)1056..1190
Exon (6)1191..1294
Exon (7)1295..1419
Exon (8)1420..1532
Exon (9)1533..1670
Exon (10)1671..1773
Exon (11)1774..1874
Exon (12)1875..2045
Exon (13)2046..3565
Translation

Target ORF information:

RefSeq Version NM_005629.3
Organism Homo sapiens(Human)
Definition Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_005629.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGGCGAAGA AGAGCGCCGA GAACGGCATC TATAGCGTGT CCGGCGACGA GAAGAAGGGC 
CCCCTCATCG CGCCCGGGCC CGACGGGGCC CCGGCCAAGG GCGACGGCCC CGTGGGCCTG
GGGACACCCG GCGGCCGCCT GGCCGTGCCG CCGCGCGAGA CCTGGACGCG CCAGATGGAC
TTCATCATGT CGTGCGTGGG CTTCGCCGTG GGCTTGGGCA ACGTGTGGCG CTTCCCCTAC
CTGTGCTACA AGAACGGCGG AGGTGTGTTC CTTATTCCCT ACGTCCTGAT CGCCCTGGTT
GGAGGAATCC CCATTTTCTT CTTAGAGATC TCGCTGGGCC AGTTCATGAA GGCCGGCAGC
ATCAATGTCT GGAACATCTG TCCCCTGTTC AAAGGCCTGG GCTACGCCTC CATGGTGATC
GTCTTCTACT GCAACACCTA CTACATCATG GTGCTGGCCT GGGGCTTCTA TTACCTGGTC
AAGTCCTTTA CCACCACGCT GCCCTGGGCC ACATGTGGCC ACACCTGGAA CACTCCCGAC
TGCGTGGAGA TCTTCCGCCA TGAAGACTGT GCCAATGCCA GCCTGGCCAA CCTCACCTGT
GACCAGCTTG CTGACCGCCG GTCCCCTGTC ATCGAGTTCT GGGAGAACAA AGTCTTGAGG
CTGTCTGGGG GACTGGAGGT GCCAGGGGCC CTCAACTGGG AGGTGACCCT TTGTCTGCTG
GCCTGCTGGG TGCTGGTCTA CTTCTGTGTC TGGAAGGGGG TCAAATCCAC GGGAAAGATC
GTGTACTTCA CTGCTACATT CCCCTACGTG GTCCTGGTCG TGCTGCTGGT GCGTGGAGTG
CTGCTGCCTG GCGCCCTGGA TGGCATCATT TACTATCTCA AGCCTGACTG GTCAAAGCTG
GGGTCCCCTC AGGTGTGGAT AGATGCGGGG ACCCAGATTT TCTTTTCTTA CGCCATTGGC
CTGGGGGCCC TCACAGCCCT GGGCAGCTAC AACCGCTTCA ACAACAACTG CTACAAGGAC
GCCATCATCC TGGCTCTCAT CAACAGTGGG ACCAGCTTCT TTGCTGGCTT CGTGGTCTTC
TCCATCCTGG GCTTCATGGC TGCAGAGCAG GGCGTGCACA TCTCCAAGGT GGCAGAGTCA
GGGCCGGGCC TGGCCTTCAT CGCCTACCCG CGGGCTGTCA CGCTGATGCC AGTGGCCCCA
CTCTGGGCTG CCCTGTTCTT CTTCATGCTG TTGCTGCTTG GTCTCGACAG CCAGTTTGTA
GGTGTGGAGG GCTTCATCAC CGGCCTCCTC GACCTCCTCC CGGCCTCCTA CTACTTCCGT
TTCCAAAGGG AGATCTCTGT GGCCCTCTGT TGTGCCCTCT GCTTTGTCAT CGATCTCTCC
ATGGTGACTG ATGGCGGGAT GTACGTCTTC CAGCTGTTTG ACTACTACTC GGCCAGCGGC
ACCACCCTGC TCTGGCAGGC CTTTTGGGAG TGCGTGGTGG TGGCCTGGGT GTACGGAGCT
GACCGCTTCA TGGACGACAT TGCCTGTATG ATCGGGTACC GACCTTGCCC CTGGATGAAA
TGGTGCTGGT CCTTCTTCAC CCCGCTGGTC TGCATGGGCA TCTTCATCTT CAACGTTGTG
TACTACGAGC CGCTGGTCTA CAACAACACC TACGTGTACC CGTGGTGGGG TGAGGCCATG
GGCTGGGCCT TCGCCCTGTC CTCCATGCTG TGCGTGCCGC TGCACCTCCT GGGCTGCCTC
CTCAGGGCCA AGGGCACCAT GGCTGAGCGC TGGCAGCACC TGACCCAGCC CATCTGGGGC
CTCCACCACT TGGAGTACCG AGCTCAGGAC GCAGATGTCA GGGGCCTGAC CACCCTGACC
CCAGTGTCCG AGAGCAGCAA GGTCGTCGTG GTGGAGAGTG TCATGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu27780
Clone ID Related Accession (Same CDS sequence) NM_001142806.1
Accession Version NM_001142806.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1563bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-02-20
Organism Homo sapiens(Human)
Product sodium- and chloride-dependent creatine transporter 1 isoform 3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK295495.1, U52111.3, BC012355.1, CX788315.1, BE207407.1 and CA424985.1. Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK295495.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
ATGAAGGCCG GCAGCATCAA TGTCTGGAAC ATCTGTCCCC TGTTCAAAGG CCTGGGCTAC 
GCCTCCATGG TGATCGTCTT CTACTGCAAC ACCTACTACA TCATGGTGCT GGCCTGGGGC
TTCTATTACC TGGTCAAGTC CTTTACCACC ACGCTGCCCT GGGCCACATG TGGCCACACC
TGGAACACTC CCGACTGCGT GGAGATCTTC CGCCATGAAG ACTGTGCCAA TGCCAGCCTG
GCCAACCTCA CCTGTGACCA GCTTGCTGAC CGCCGGTCCC CTGTCATCGA GTTCTGGGAG
AACAAAGTCT TGAGGCTGTC TGGGGGACTG GAGGTGCCAG GGGCCCTCAA CTGGGAGGTG
ACCCTTTGTC TGCTGGCCTG CTGGGTGCTG GTCTACTTCT GTGTCTGGAA GGGGGTCAAA
TCCACGGGAA AGATCGTGTA CTTCACTGCT ACATTCCCCT ACGTGGTCCT GGTCGTGCTG
CTGGTGCGTG GAGTGCTGCT GCCTGGCGCC CTGGATGGCA TCATTTACTA TCTCAAGCCT
GACTGGTCAA AGCTGGGGTC CCCTCAGGTG TGGATAGATG CGGGGACCCA GATTTTCTTT
TCTTACGCCA TTGGCCTGGG GGCCCTCACA GCCCTGGGCA GCTACAACCG CTTCAACAAC
AACTGCTACA AGGACGCCAT CATCCTGGCT CTCATCAACA GTGGGACCAG CTTCTTTGCT
GGCTTCGTGG TCTTCTCCAT CCTGGGCTTC ATGGCTGCAG AGCAGGGCGT GCACATCTCC
AAGGTGGCAG AGTCAGGGCC GGGCCTGGCC TTCATCGCCT ACCCGCGGGC TGTCACGCTG
ATGCCAGTGG CCCCACTCTG GGCTGCCCTG TTCTTCTTCA TGCTGTTGCT GCTTGGTCTC
GACAGCCAGT TTGTAGGTGT GGAGGGCTTC ATCACCGGCC TCCTCGACCT CCTCCCGGCC
TCCTACTACT TCCGTTTCCA AAGGGAGATC TCTGTGGCCC TCTGTTGTGC CCTCTGCTTT
GTCATCGATC TCTCCATGGT GACTGATGGC GGGATGTACG TCTTCCAGCT GTTTGACTAC
TACTCGGCCA GCGGCACCAC CCTGCTCTGG CAGGCCTTTT GGGAGTGCGT GGTGGTGGCC
TGGGTGTACG GAGCTGACCG CTTCATGGAC GACATTGCCT GTATGATCGG GTACCGACCT
TGCCCCTGGA TGAAATGGTG CTGGTCCTTC TTCACCCCGC TGGTCTGCAT GGGCATCTTC
ATCTTCAACG TTGTGTACTA CGAGCCGCTG GTCTACAACA ACACCTACGT GTACCCGTGG
TGGGGTGAGG CCATGGGCTG GGCCTTCGCC CTGTCCTCCA TGCTGTGCGT GCCGCTGCAC
CTCCTGGGCT GCCTCCTCAG GGCCAAGGGC ACCATGGCTG AGCGCTGGCA GCACCTGACC
CAGCCCATCT GGGGCCTCCA CCACTTGGAG TACCGAGCTC AGGACGCAGA TGTCAGGGGC
CTGACCACCC TGACCCCAGT GTCCGAGAGC AGCAAGGTCG TCGTGGTGGA GAGTGTCATG
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001136278.1
CDS173..1735
Misc Feature(1)5..7
Misc Feature(2)173..1690
Exon (1)1..89
Exon (2)90..221
Exon (3)222..471
Exon (4)472..604
Exon (5)605..739
Exon (6)740..843
Exon (7)844..968
Exon (8)969..1081
Exon (9)1082..1219
Exon (10)1220..1322
Exon (11)1323..1423
Exon (12)1424..1594
Exon (13)1595..3114
Translation

Target ORF information:

RefSeq Version NM_001142806.1
Organism Homo sapiens(Human)
Definition Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001142806.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
ATGAAGGCCG GCAGCATCAA TGTCTGGAAC ATCTGTCCCC TGTTCAAAGG CCTGGGCTAC 
GCCTCCATGG TGATCGTCTT CTACTGCAAC ACCTACTACA TCATGGTGCT GGCCTGGGGC
TTCTATTACC TGGTCAAGTC CTTTACCACC ACGCTGCCCT GGGCCACATG TGGCCACACC
TGGAACACTC CCGACTGCGT GGAGATCTTC CGCCATGAAG ACTGTGCCAA TGCCAGCCTG
GCCAACCTCA CCTGTGACCA GCTTGCTGAC CGCCGGTCCC CTGTCATCGA GTTCTGGGAG
AACAAAGTCT TGAGGCTGTC TGGGGGACTG GAGGTGCCAG GGGCCCTCAA CTGGGAGGTG
ACCCTTTGTC TGCTGGCCTG CTGGGTGCTG GTCTACTTCT GTGTCTGGAA GGGGGTCAAA
TCCACGGGAA AGATCGTGTA CTTCACTGCT ACATTCCCCT ACGTGGTCCT GGTCGTGCTG
CTGGTGCGTG GAGTGCTGCT GCCTGGCGCC CTGGATGGCA TCATTTACTA TCTCAAGCCT
GACTGGTCAA AGCTGGGGTC CCCTCAGGTG TGGATAGATG CGGGGACCCA GATTTTCTTT
TCTTACGCCA TTGGCCTGGG GGCCCTCACA GCCCTGGGCA GCTACAACCG CTTCAACAAC
AACTGCTACA AGGACGCCAT CATCCTGGCT CTCATCAACA GTGGGACCAG CTTCTTTGCT
GGCTTCGTGG TCTTCTCCAT CCTGGGCTTC ATGGCTGCAG AGCAGGGCGT GCACATCTCC
AAGGTGGCAG AGTCAGGGCC GGGCCTGGCC TTCATCGCCT ACCCGCGGGC TGTCACGCTG
ATGCCAGTGG CCCCACTCTG GGCTGCCCTG TTCTTCTTCA TGCTGTTGCT GCTTGGTCTC
GACAGCCAGT TTGTAGGTGT GGAGGGCTTC ATCACCGGCC TCCTCGACCT CCTCCCGGCC
TCCTACTACT TCCGTTTCCA AAGGGAGATC TCTGTGGCCC TCTGTTGTGC CCTCTGCTTT
GTCATCGATC TCTCCATGGT GACTGATGGC GGGATGTACG TCTTCCAGCT GTTTGACTAC
TACTCGGCCA GCGGCACCAC CCTGCTCTGG CAGGCCTTTT GGGAGTGCGT GGTGGTGGCC
TGGGTGTACG GAGCTGACCG CTTCATGGAC GACATTGCCT GTATGATCGG GTACCGACCT
TGCCCCTGGA TGAAATGGTG CTGGTCCTTC TTCACCCCGC TGGTCTGCAT GGGCATCTTC
ATCTTCAACG TTGTGTACTA CGAGCCGCTG GTCTACAACA ACACCTACGT GTACCCGTGG
TGGGGTGAGG CCATGGGCTG GGCCTTCGCC CTGTCCTCCA TGCTGTGCGT GCCGCTGCAC
CTCCTGGGCT GCCTCCTCAG GGCCAAGGGC ACCATGGCTG AGCGCTGGCA GCACCTGACC
CAGCCCATCT GGGGCCTCCA CCACTTGGAG TACCGAGCTC AGGACGCAGA TGTCAGGGGC
CTGACCACCC TGACCCCAGT GTCCGAGAGC AGCAAGGTCG TCGTGGTGGA GAGTGTCATG
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu27787
Clone ID Related Accession (Same CDS sequence) NM_001142805.1
Accession Version NM_001142805.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1878bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-02-20
Organism Homo sapiens(Human)
Product sodium- and chloride-dependent creatine transporter 1 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC081558.1, L31409.1, AB209704.1, U52111.3, CX788315.1, BE207407.1 and CA424985.1. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB209704.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGGCGAAGA AGAGCGCCGA GAACGGCATC TATAGCGTGT CCGGCGACGA GAAGAAGGGC 
CCCCTCATCG CGCCCGGGCC CGACGGGGCC CCGGCCAAGG GCGACGGCCC CGTGGGCCTG
GGGACACCCG GCGGCCGCCT GGCCGTGCCG CCGCGCGAGA CCTGGACGCG CCAGATGGAC
TTCATCATGT CGTGCGTGGG CTTCGCCGTG GGCTTGGGCA ACGTGTGGCG CTTCCCCTAC
CTGTGCTACA AGAACGGCGG AGGTGTGTTC CTTATTCCCT ACGTCCTGAT CGCCCTGGTT
GGAGGAATCC CCATTTTCTT CTTAGAGATC TCGCTGGGCC AGTTCATGAA GGCCGGCAGC
ATCAATGTCT GGAACATCTG TCCCCTGTTC AAAGGCCTGG GCTACGCCTC CATGGTGATC
GTCTTCTACT GCAACACCTA CTACATCATG GTGCTGGCCT GGGGCTTCTA TTACCTGGTC
AAGTCCTTTA CCACCACGCT GCCCTGGGCC ACATGTGGCC ACACCTGGAA CACTCCCGAC
TGCGTGGAGA TCTTCCGCCA TGAAGACTGT GCCAATGCCA GCCTGGCCAA CCTCACCTGT
GACCAGCTTG CTGACCGCCG GTCCCCTGTC ATCGAGTTCT GGGAGAACAA AGTCTTGAGG
CTGTCTGGGG GACTGGAGGT GCCAGGGGCC CTCAACTGGG AGGTGACCCT TTGTCTGCTG
GCCTGCTGGG TGCTGGTCTA CTTCTGTGTC TGGAAGGGGG TCAAATCCAC GGGAAAGATC
GTGTACTTCA CTGCTACATT CCCCTACGTG GTCCTGGTCG TGCTGCTGGT GCGTGGAGTG
CTGCTGCCTG GCGCCCTGGA TGGCATCATT TACTATCTCA AGCCTGACTG GTCAAAGCTG
GGGTCCCCTC AGGTGTGGAT AGATGCGGGG ACCCAGATTT TCTTTTCTTA CGCCATTGGC
CTGGGGGCCC TCACAGCCCT GGGCAGCTAC AACCGCTTCA ACAACAACTG CTACAATGGG
ACCAGCTTCT TTGCTGGCTT CGTGGTCTTC TCCATCCTGG GCTTCATGGC TGCAGAGCAG
GGCGTGCACA TCTCCAAGGT GGCAGAGTCA GGGCCGGGCC TGGCCTTCAT CGCCTACCCG
CGGGCTGTCA CGCTGATGCC AGTGGCCCCA CTCTGGGCTG CCCTGTTCTT CTTCATGCTG
TTGCTGCTTG GTCTCGACAG CCAGTTTGTA GGTGTGGAGG GCTTCATCAC CGGCCTCCTC
GACCTCCTCC CGGCCTCCTA CTACTTCCGT TTCCAAAGGG AGATCTCTGT GGCCCTCTGT
TGTGCCCTCT GCTTTGTCAT CGATCTCTCC ATGGTGACTG ATGGCGGGAT GTACGTCTTC
CAGCTGTTTG ACTACTACTC GGCCAGCGGC ACCACCCTGC TCTGGCAGGC CTTTTGGGAG
TGCGTGGTGG TGGCCTGGGT GTACGGAGCT GACCGCTTCA TGGACGACAT TGCCTGTATG
ATCGGGTACC GACCTTGCCC CTGGATGAAA TGGTGCTGGT CCTTCTTCAC CCCGCTGGTC
TGCATGGGCA TCTTCATCTT CAACGTTGTG TACTACGAGC CGCTGGTCTA CAACAACACC
TACGTGTACC CGTGGTGGGG TGAGGCCATG GGCTGGGCCT TCGCCCTGTC CTCCATGCTG
TGCGTGCCGC TGCACCTCCT GGGCTGCCTC CTCAGGGCCA AGGGCACCAT GGCTGAGCGC
TGGCAGCACC TGACCCAGCC CATCTGGGGC CTCCACCACT TGGAGTACCG AGCTCAGGAC
GCAGATGTCA GGGGCCTGAC CACCCTGACC CCAGTGTCCG AGAGCAGCAA GGTCGTCGTG
GTGGAGAGTG TCATGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001136277.1
CDS279..2156
Misc Feature(1)219..221
Misc Feature(2)402..404
Misc Feature(3)432..2111
Misc Feature(4)459..521
Misc Feature(5)order(477..479,486..488,1485..1487,1494..1499)
Misc Feature(6)540..602
Misc Feature(7)693..755
Misc Feature(8)969..1031
Misc Feature(9)1086..1148
Misc Feature(10)1191..1253
Misc Feature(11)1431..1493
Misc Feature(12)1581..1643
Misc Feature(13)1686..1748
Misc Feature(14)1809..1871
Misc Feature(15)1929..1991
Misc Feature(16)2106..2108
Misc Feature(17)2115..2117
Exon (1)1..540
Exon (2)541..672
Exon (3)673..922
Exon (4)923..1055
Exon (5)1056..1190
Exon (6)1191..1294
Exon (7)1295..1389
Exon (8)1390..1502
Exon (9)1503..1640
Exon (10)1641..1743
Exon (11)1744..1844
Exon (12)1845..2015
Exon (13)2016..3535
Translation

Target ORF information:

RefSeq Version NM_001142805.1
Organism Homo sapiens(Human)
Definition Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001142805.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGGCGAAGA AGAGCGCCGA GAACGGCATC TATAGCGTGT CCGGCGACGA GAAGAAGGGC 
CCCCTCATCG CGCCCGGGCC CGACGGGGCC CCGGCCAAGG GCGACGGCCC CGTGGGCCTG
GGGACACCCG GCGGCCGCCT GGCCGTGCCG CCGCGCGAGA CCTGGACGCG CCAGATGGAC
TTCATCATGT CGTGCGTGGG CTTCGCCGTG GGCTTGGGCA ACGTGTGGCG CTTCCCCTAC
CTGTGCTACA AGAACGGCGG AGGTGTGTTC CTTATTCCCT ACGTCCTGAT CGCCCTGGTT
GGAGGAATCC CCATTTTCTT CTTAGAGATC TCGCTGGGCC AGTTCATGAA GGCCGGCAGC
ATCAATGTCT GGAACATCTG TCCCCTGTTC AAAGGCCTGG GCTACGCCTC CATGGTGATC
GTCTTCTACT GCAACACCTA CTACATCATG GTGCTGGCCT GGGGCTTCTA TTACCTGGTC
AAGTCCTTTA CCACCACGCT GCCCTGGGCC ACATGTGGCC ACACCTGGAA CACTCCCGAC
TGCGTGGAGA TCTTCCGCCA TGAAGACTGT GCCAATGCCA GCCTGGCCAA CCTCACCTGT
GACCAGCTTG CTGACCGCCG GTCCCCTGTC ATCGAGTTCT GGGAGAACAA AGTCTTGAGG
CTGTCTGGGG GACTGGAGGT GCCAGGGGCC CTCAACTGGG AGGTGACCCT TTGTCTGCTG
GCCTGCTGGG TGCTGGTCTA CTTCTGTGTC TGGAAGGGGG TCAAATCCAC GGGAAAGATC
GTGTACTTCA CTGCTACATT CCCCTACGTG GTCCTGGTCG TGCTGCTGGT GCGTGGAGTG
CTGCTGCCTG GCGCCCTGGA TGGCATCATT TACTATCTCA AGCCTGACTG GTCAAAGCTG
GGGTCCCCTC AGGTGTGGAT AGATGCGGGG ACCCAGATTT TCTTTTCTTA CGCCATTGGC
CTGGGGGCCC TCACAGCCCT GGGCAGCTAC AACCGCTTCA ACAACAACTG CTACAATGGG
ACCAGCTTCT TTGCTGGCTT CGTGGTCTTC TCCATCCTGG GCTTCATGGC TGCAGAGCAG
GGCGTGCACA TCTCCAAGGT GGCAGAGTCA GGGCCGGGCC TGGCCTTCAT CGCCTACCCG
CGGGCTGTCA CGCTGATGCC AGTGGCCCCA CTCTGGGCTG CCCTGTTCTT CTTCATGCTG
TTGCTGCTTG GTCTCGACAG CCAGTTTGTA GGTGTGGAGG GCTTCATCAC CGGCCTCCTC
GACCTCCTCC CGGCCTCCTA CTACTTCCGT TTCCAAAGGG AGATCTCTGT GGCCCTCTGT
TGTGCCCTCT GCTTTGTCAT CGATCTCTCC ATGGTGACTG ATGGCGGGAT GTACGTCTTC
CAGCTGTTTG ACTACTACTC GGCCAGCGGC ACCACCCTGC TCTGGCAGGC CTTTTGGGAG
TGCGTGGTGG TGGCCTGGGT GTACGGAGCT GACCGCTTCA TGGACGACAT TGCCTGTATG
ATCGGGTACC GACCTTGCCC CTGGATGAAA TGGTGCTGGT CCTTCTTCAC CCCGCTGGTC
TGCATGGGCA TCTTCATCTT CAACGTTGTG TACTACGAGC CGCTGGTCTA CAACAACACC
TACGTGTACC CGTGGTGGGG TGAGGCCATG GGCTGGGCCT TCGCCCTGTC CTCCATGCTG
TGCGTGCCGC TGCACCTCCT GGGCTGCCTC CTCAGGGCCA AGGGCACCAT GGCTGAGCGC
TGGCAGCACC TGACCCAGCC CATCTGGGGC CTCCACCACT TGGAGTACCG AGCTCAGGAC
GCAGATGTCA GGGGCCTGAC CACCCTGACC CCAGTGTCCG AGAGCAGCAA GGTCGTCGTG
GTGGAGAGTG TCATGTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
Gene565(2)187-91(2015 Jul)
DesRoches CL,Patel J,Wang P,Minassian B,Salomons GS,Marshall CR,Mercimek-Mahmutoglu S


book

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
American journal of medical genetics. Part A164A(10)2613-7(2014 Oct)
Calhoun AR,Raymond GV


book

Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
Kidney & blood pressure research39(6)546-54(2014)
Fezai M,Elvira B,Borras J,Ben-Attia M,Hoseinzadeh Z,Lang F


book

Upregulation of the creatine transporter Slc6A8 by Klotho.
Kidney & blood pressure research39(6)516-25(2014)
Almilaji A,Sopjani M,Elvira B,Borras J,Dërmaku-Sopjani M,Munoz C,Warsi J,Lang UE,Lang F


 
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