Property Summary

NCBI Gene PubMed Count 55
Grant Count 57
R01 Count 37
Funding $3,439,505.51
PubMed Score 115.06
PubTator Score 116.01

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P48029 B2KY47 B4DIA3 E9PFC0 Q13032 Q66I36 CT1
Symbols CRT
CT1
CRTR
CTR5
CCDS1

Gene

PANTHER Protein Class (2)

Gene RIF (39)

PMID Text
25861866 The SLC6A8 c.1654G>T (p.Val552Leu) variant showed low residual creatine uptake activity of 35% of wild type transfected HeLa cells.
25531585 Both SPAK and OSR1 are negative regulators of the creatine transporter SLC6A8
25531216 Klotho protein up-regulates the activity of creatine transporter CreaT (Slc6A8) by stabilizing the carrier protein in the cell membrane
25044748 In the titel.
24962355 It is likely that the (extracellular) structure of brain cells is also impaired in SLC6A8-deficient patients, and future studies are necessary to confirm this and to reveal the true functions of creatine in the brain.
24789340 Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment
24597975 both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency
24561156 CTR4 and CTR5 are possible regulators of the creatine transporter since their overexpression results in upregulated CTR1 protein and creatine uptake.
24144841 a 1104 bp sequence proximal to the mRNA start site of the SLC6A8 gene with promoter activity in five cell types was identified.
24140398 Combination of deep sequencing technology with long-range PCR revealed a novel intragenic duplication in the SLC6A8 gene, providing a definitive molecular diagnosis of creatine transporter deficiency in a male patient.
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AA Sequence

MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAV      1 - 70
GLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVI     71 - 140
VFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPV    141 - 210
IEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGV    211 - 280
LLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSG    281 - 350
TSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFV    351 - 420
GVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWE    421 - 490
CVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAM    491 - 560
GWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVV    561 - 630
VESVM                                                                     631 - 635
//

Text Mined References (62)

PMID Year Title
25861866 2015 Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
25531585 2014 Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
25531216 2014 Upregulation of the creatine transporter Slc6A8 by Klotho.
25044748 2014 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.
24962355 2014 RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
24789340 2014 X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24597975 2015 Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
24561156 2014 Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.
24144841 2014 Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.
More...