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Aliases for SLC6A8 Gene

Aliases for SLC6A8 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 8 2 3
  • Solute Carrier Family 6 Member 8 3 4
  • Creatine Transporter 1 3 4
  • CCDS1 3 6
  • CRTR 3 6
  • CT1 3 4
  • Sodium- And Chloride-Dependent Creatine Transporter 1 3
  • Creatine Transporter SLC6A8 Variant D 3
  • Creatine Transporter 2
  • CTR5 3
  • CRT 3

External Ids for SLC6A8 Gene

Summaries for SLC6A8 Gene

Entrez Gene Summary for SLC6A8 Gene

  • 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]

GeneCards Summary for SLC6A8 Gene

SLC6A8 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8) is a Protein Coding gene. Diseases associated with SLC6A8 include cerebral creatine deficiency syndrome 1 and creatine transporter deficiency. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include neurotransmitter:sodium symporter activity and creatine transmembrane transporter activity. An important paralog of this gene is SLC6A4.

UniProtKB/Swiss-Prot for SLC6A8 Gene

  • Required for the uptake of creatine in muscles and brain

Gene Wiki entry for SLC6A8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A8 Gene

Genomics for SLC6A8 Gene

Genomic Location for SLC6A8 Gene

Start:
153,688,099 bp from pter
End:
153,696,593 bp from pter
Size:
8,495 bases
Orientation:
Plus strand

Genomic View for SLC6A8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A8 Gene

Regulatory Elements for SLC6A8 Gene

Proteins for SLC6A8 Gene

  • Protein details for SLC6A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48029-SC6A8_HUMAN
    Recommended name:
    Sodium- and chloride-dependent creatine transporter 1
    Protein Accession:
    P48029
    Secondary Accessions:
    • B2KY47
    • B4DIA3
    • E9PFC0
    • Q13032
    • Q66I36

    Protein attributes for SLC6A8 Gene

    Size:
    635 amino acids
    Molecular mass:
    70523 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC6A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A8 Gene

Proteomics data for SLC6A8 Gene at MOPED

Post-translational modifications for SLC6A8 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn192, Asn197, and Asn548

Other Protein References for SLC6A8 Gene

No data available for DME Specific Peptides for SLC6A8 Gene

Domains for SLC6A8 Gene

Gene Families for SLC6A8 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC6A8 Gene

Suggested Antigen Peptide Sequences for SLC6A8 Gene

Graphical View of Domain Structure for InterPro Entry

P48029

UniProtKB/Swiss-Prot:

SC6A8_HUMAN
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily.:
    • P48029
genes like me logo Genes that share domains with SLC6A8: view

Function for SLC6A8 Gene

Molecular function for SLC6A8 Gene

GENATLAS Biochemistry: solute carrier family 6,member A8,neurotransmitter transporter,creatine
UniProtKB/Swiss-Prot Function: Required for the uptake of creatine in muscles and brain

Gene Ontology (GO) - Molecular Function for SLC6A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005308 creatine transmembrane transporter activity NAS 8661037
GO:0005309 creatine:sodium symporter activity IEA --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A8: view
genes like me logo Genes that share phenotypes with SLC6A8: view

miRNA for SLC6A8 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC6A8 Gene

Localization for SLC6A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A8 Gene COMPARTMENTS Subcellular localization image for SLC6A8 gene
Compartment Confidence
plasma membrane 4
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC6A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016021 integral component of membrane TAS 7953292
genes like me logo Genes that share ontologies with SLC6A8: view

Pathways for SLC6A8 Gene

genes like me logo Genes that share pathways with SLC6A8: view

Pathways by source for SLC6A8 Gene

Interacting Proteins for SLC6A8 Gene

Gene Ontology (GO) - Biological Process for SLC6A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0006810 transport TAS 7953292
GO:0006814 sodium ion transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006936 muscle contraction TAS 8661155
genes like me logo Genes that share ontologies with SLC6A8: view

Compounds for SLC6A8 Gene

(2) HMDB Compounds for SLC6A8 Gene

Compound Synonyms Cas Number PubMed IDs
Creatine
  • ((amino(imino)methyl)(methyl)amino)acetate
57-00-1
Sodium
  • Sodium
7440-23-5

(1) Drugbank Compounds for SLC6A8 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Creatine
  • (alpha-Methylguanido)acetic acid
57-00-1 target

(3) Novoseek inferred chemical compound relationships for SLC6A8 Gene

Compound -log(P) Hits PubMed IDs
guanidinoacetate 89 3
creatinine 60.8 17
arginine 35.3 1
genes like me logo Genes that share compounds with SLC6A8: view

Transcripts for SLC6A8 Gene

Unigene Clusters for SLC6A8 Gene

Solute carrier family 6 (neurotransmitter transporter, creatine), member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A8 Gene

No ASD Table

Relevant External Links for SLC6A8 Gene

GeneLoc Exon Structure for
SLC6A8
ECgene alternative splicing isoforms for
SLC6A8

Expression for SLC6A8 Gene

mRNA expression in normal human tissues for SLC6A8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC6A8 Gene

SOURCE GeneReport for Unigene cluster for SLC6A8 Gene Hs.540696

mRNA Expression by UniProt/SwissProt for SLC6A8 Gene

P48029-SC6A8_HUMAN
Tissue specificity: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate.
genes like me logo Genes that share expressions with SLC6A8: view

No data available for mRNA differential expression in normal tissues for SLC6A8 Gene

Orthologs for SLC6A8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A8 35
  • 98.69 (n)
  • 99.02 (a)
cow
(Bos Taurus)
Mammalia SLC6A8 35
  • 92.32 (n)
  • 96.46 (a)
SLC6A8 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A8 35
  • 91.93 (n)
  • 95.2 (a)
SLC6A8 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a8 35
  • 91.97 (n)
  • 98.9 (a)
Slc6a8 16
Slc6a8 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A8 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a8 35
  • 92.13 (n)
  • 98.43 (a)
chicken
(Gallus gallus)
Aves SLC6A8 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A8 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489909 35
  • 73.46 (n)
  • 78.61 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.16770 35
slc6a8 35
  • 73.1 (n)
  • 77.72 (a)
slc6a8 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1732 36
  • 45 (a)
OneToMany
ine 37
  • 41 (a)
BG:DS03431.1 37
  • 35 (a)
CG1732 37
  • 51 (a)
CG10804 37
  • 37 (a)
CG5549 37
  • 42 (a)
CG3252 37
  • 38 (a)
CG1698 37
  • 35 (a)
CG8850 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-11 36
  • 46 (a)
OneToMany
snf-8 37
  • 24 (a)
snf-4 37
  • 35 (a)
snf-3 37
  • 42 (a)
snf-9 37
  • 32 (a)
snf-11 37
  • 47 (a)
snf-6 37
  • 30 (a)
snf-2 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
CSA.1853 36
  • 43 (a)
OneToMany
CSA.4107 36
  • 54 (a)
OneToMany
Species with no ortholog for SLC6A8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A8 Gene

ENSEMBL:
Gene Tree for SLC6A8 (if available)
TreeFam:
Gene Tree for SLC6A8 (if available)

Paralogs for SLC6A8 Gene

Paralogs for SLC6A8 Gene

genes like me logo Genes that share paralogs with SLC6A8: view

Variants for SLC6A8 Gene

Sequence variations from dbSNP and Humsavar for SLC6A8 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1803330 -- 153,695,136(+) CAGGA(C/T)GCAGA reference, synonymous-codon
rs1811105 -- 153,695,785(+) CAATC(A/G)CCACC utr-variant-3-prime
rs2097220 -- 153,696,141(+) ATGTG(C/T)GTGTG utr-variant-3-prime
rs2314069 -- 153,691,901(+) GCCAC(A/G)ACTCC intron-variant
rs2314073 -- 153,694,990(+) GGCAG(C/T)GGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A8 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv1003299 CNV Gain 20482838
esv21656 CNV Gain+Loss 19812545

Relevant External Links for SLC6A8 Gene

HapMap Linkage Disequilibrium report
SLC6A8
Human Gene Mutation Database (HGMD)
SLC6A8
Locus Specific Mutation Databases (LSDB)
SLC6A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A8 Gene

Disorders for SLC6A8 Gene

(1) OMIM Diseases for SLC6A8 Gene (300036)

UniProtKB/Swiss-Prot

SC6A8_HUMAN
  • Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]: An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. {ECO:0000269 PubMed:11898126, ECO:0000269 PubMed:12210795, ECO:0000269 PubMed:15154114, ECO:0000269 PubMed:17101918, ECO:0000269 PubMed:23660394, ECO:0000269 PubMed:24123876}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SLC6A8 Gene

(2) Novoseek inferred disease relationships for SLC6A8 Gene

Disease -log(P) Hits PubMed IDs
mental retardation 60.6 7
epilepsy 33.2 1

Relevant External Links for SLC6A8

GeneTests
SLC6A8
GeneReviews
SLC6A8
Genetic Association Database (GAD)
SLC6A8
Human Genome Epidemiology (HuGE) Navigator
SLC6A8
genes like me logo Genes that share disorders with SLC6A8: view

Publications for SLC6A8 Gene

  1. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (PMID: 11898126) Hahn K.A. … Schwartz C.E. (Am. J. Hum. Genet. 2002) 3 4 23
  2. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. (PMID: 16738945) Clark A.J. … Salomons G.S. (Hum. Genet. 2006) 3 23 48
  3. Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. (PMID: 18515020) Martinez-Munoz C. … Salomons G.S. (Gene 2008) 3 4 23
  4. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (PMID: 12210795) Bizzi A. … Uziel G. (Ann. Neurol. 2002) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SLC6A8 Gene

Sources for SLC6A8 Gene

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