Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 2, mRNA.
| RefSeq Version | NM_001142805.1, 218563755 |
| Length | 3550 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), 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]. 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 | Exon (1) | 1..540 | Exon (2) | 1..540 | Exon (3) | 541..672 | Exon (4) | 673..922 | Exon (5) | 923..1055 | Exon (6) | 1056..1190 | Exon (7) | 1191..1294 | Exon (8) | 1295..1389 | Exon (9) | 1390..1502 | Exon (10) | 1503..1640 | Exon (11) | 1641..1743 | Exon (12) | 1744..1844 | Exon (13) | 1845..2015 | Exon (14) | 2016..3535 |
| Translation | MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMD
FIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGS
INVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPD
CVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL
ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL
GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYNGTSFFAGFVVFSILGFMAAEQ
GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLL
DLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWE
CVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNT
YVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQD
ADVRGLTTLTPVSESSKVVVVESVM
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| Gene Symbol | SLC6A8 |
| Gene Synonym | CRT; CRTR; CT1; MGC87396 |
| Chromosome | X |
| Locus Map | Xq28 |
| All Transcripts | NM_001142805 , NM_001142806 , NM_005629 |
| Title | Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility . |
| Author | Iqbal,F., Item,C.B., Ratschmann,R., Ali,M., Plas,E. and Bodamer,O. |
| Journal | Pak J Pharm Sci 24 (1), 75-79 (2011) |
| Title | Treatment of intractable epilepsy in a female with SLC6A8 deficiency . |
| Author | Mercimek-Mahmutoglu,S., Connolly,M.B., Poskitt,K.J., Horvath,G.A., Lowry,N., Salomons,G.S., Casey,B., Sinclair,G., Davis,C., Jakobs,C. and Stockler-Ipsiroglu,S. |
| Journal | Mol. Genet. Metab. 101 (4), 409-412 (2010) |
| Title | Creatine transporter deficiency in two half-brothers . |
| Author | Ardon,O., Amat di San Filippo,C., Salomons,G.S. and Longo,N. |
| Journal | Am. J. Med. Genet. A 152A (8), 1979-1983 (2010) |
| Title | Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes . |
| Author | Braissant,O., Beard,E., Torrent,C. and Henry,H. |
| Journal | Neurobiol. Dis. 37 (2), 423-433 (2010) |
| Title | Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse . |
| Author | Ireland,Z., Russell,A.P., Wallimann,T., Walker,D.W. and Snow,R. |
| Journal | BMC Dev. Biol. 9, 39 (2009) |
| Title | Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28 . |
| Author | Iyer,G.S., Krahe,R., Goodwin,L.A., Doggett,N.A., Siciliano,M.J., Funanage,V.L. and Proujansky,R. |
| Journal | Genomics 34 (1), 143-146 (1996) |
| Title | Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family . |
| Author | Barnwell,L.F., Chaudhuri,G. and Townsel,J.G. |
| 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,S.R., Caron,M.G., Seldin,M.F. and Warren,S.T. |
| 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., Roeske,W.R. et al. |
| Journal | Biochem. Biophys. Res. Commun. 204 (1), 419-427 (1994) |
| Title | Cloning, pharmacological characterization, and genomic localization of the human creatine transporter . |
| Author | Nash,S.R., Giros,B., Kingsmore,S.F., Rochelle,J.M., Suter,S.T., Gregor,P., Seldin,M.F. and Caron,M.G. |
| Journal | Recept. Channels 2 (2), 165-174 (1994) |
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