UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CT1
HGNC Symbol:SLC6A8
HGNC Description:solute carrier family 6 (neurotransmitter transporter), member 8
HGNC ID:11055
Superfamily:SLC
Chromosome:Chr.X(+): 152953752-152962048 GRCh37
Location:Xq28
OMIM:300036
OMIM Phenotype:Creatine deficiency syndrome, X-linked; Mental retardation, X-linked, with seizures, short stature, and midface hypoplasia; Mental retardation, X-linked
Accessions:U36341
Nucleotide RefSeq:NM_005629
Protein RefSeq:NP_005620
Entrez:6535
Ensembl:ENSG00000130821
Isoforms:5
Evidence:Substrate In Vitro Evidence: Creatine Nash et al 1994, Receptors Channels, Vol 2 (2), p.165-74 Substrate In Vivo Evidence: A naturally occurring polymorphism in CT1 causes Creatine Deficiency Syndrome Salomons et al 2001, Am J Human Genetics, Vol68, p.1497-1500 CT1 protein is reduced in cardiomyopathy Chen et al 2003, Pflugers Arch Tissue Distribution Evidence: Ubiquitous by Northern Blot Nash et al 1994, Receptors Channels, Vol 2 (2), p.165-74 Chen et al 2003, Pflugers Arch
Tissues:ubiquitous
Type:protein-coding
Sets:0
PharmGKB ID:PA35915
HPRD ID:02073
Substrates:creatine
Trivial Names:CRT, CT1, CRTR, CCDS1
Transcripts:NM_005629.3 [Chr.X(+): 152953752-152962048 GRCh37]
NM_001142805.1 [Chr.X(+): 152953752-152962048 GRCh37]
NM_001142806.1 [Chr.X(+): 152954966-152962048 GRCh37]
XM_005274726.1 [Chr.X(+): 152954000-152962047 GRCh37]
XM_005277887.1 [Chr.X(+): 1122528-1130575 GRCh37]
ENST00000253122 [Chr.X(+): 152953554-152962048 GRCh37]
ENST00000413787 [Chr.X(+): 152958509-152960031 GRCh37]
ENST00000429147 [Chr.X(+): 152956916-152957670 GRCh37]
ENST00000430077 [Chr.X(+): 152954922-152960782 GRCh37]
ENST00000442457 [Chr.X(+): 152958722-152959875 GRCh37]
ENST00000457723 [Chr.X(+): 152958917-152959619 GRCh37]
ENST00000466243 [Chr.X(+): 152956573-152957537 GRCh37]
ENST00000467402 [Chr.X(+): 152956818-152959427 GRCh37]
ENST00000476466 [Chr.X(+): 152954178-152956336 GRCh37]
ENST00000485324 [Chr.X(+): 152957686-152960855 GRCh37]
Annotation History:View Events (19)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC6A8.

Variant Data

View all PMT variants for SLC6A8 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.