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Aliases for SLC6A8 Gene

Aliases for SLC6A8 Gene

  • Solute Carrier Family 6 Member 8 2 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8 2 3 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 8 2 3
  • Creatine Transporter 1 3 4
  • CT1 3 4
  • Creatine Transporter SLC6A8 Variant D 3
  • Creatine Transporter 2
  • CCDS1 3
  • CRTR 3
  • CTR5 3
  • CRT 3

External Ids for SLC6A8 Gene

Previous GeneCards Identifiers for SLC6A8 Gene

  • GC0XP147090
  • GC0XP149408
  • GC0XP150539
  • GC0XP151421
  • GC0XP152301
  • GC0XP152433
  • GC0XP152606
  • GC0XP152953
  • GC0XP141612

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 Member 8) is a Protein Coding gene. Diseases associated with SLC6A8 include cerebral creatine deficiency syndrome 1 and osteoporosis. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include neurotransmitter:sodium symporter activity and creatine:sodium symporter 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

Regulatory Elements for SLC6A8 Gene

Genomic Location for SLC6A8 Gene

Chromosome:
X
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

Genes around SLC6A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 192, Asn 197, and Asn 548
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A8 Gene

Antibody Products

No data available for DME Specific Peptides for SLC6A8 Gene

Domains & Families for SLC6A8 Gene

Gene Families for SLC6A8 Gene

HGNC:
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 :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily.
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:0005308 creatine transmembrane transporter activity NAS 8661037
genes like me logo Genes that share ontologies with SLC6A8: view
genes like me logo Genes that share phenotypes with SLC6A8: view

Human Phenotype Ontology for SLC6A8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A8 Gene

MGI Knock Outs for SLC6A8:

Animal Model Products

miRNA for SLC6A8 Gene

miRTarBase miRNAs that target SLC6A8

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
nucleus 2
cytosol 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SLC6A8 Gene

Pathways & Interactions 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:0006595 polyamine metabolic process TAS --
GO:0006936 muscle contraction TAS 8661155
GO:0008150 biological_process ND --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SLC6A8: view

No data available for SIGNOR curated interactions for SLC6A8 Gene

Drugs & Compounds for SLC6A8 Gene

(2) Drugs for SLC6A8 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved Nutra Target 110

(3) Additional Compounds for SLC6A8 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
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

Protein differential expression in normal tissues from HIPED for SLC6A8 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with SLC6A8: view

Protein tissue co-expression partners for SLC6A8 Gene

Primer Products

In Situ Assay Products

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 36
  • 95 (a)
OneToOne
SLC6A8 35
  • 91.93 (n)
  • 95.2 (a)
mouse
(Mus musculus)
Mammalia Slc6a8 16
Slc6a8 36
  • 99 (a)
OneToOne
Slc6a8 35
  • 91.97 (n)
  • 98.9 (a)
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 slc6a8 36
  • 74 (a)
OneToOne
Dr.16770 35
slc6a8 35
  • 73.1 (n)
  • 77.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta BG:DS03431.1 37
  • 35 (a)
CG10804 37
  • 37 (a)
CG1698 37
  • 35 (a)
CG1732 37
  • 51 (a)
CG3252 37
  • 38 (a)
CG5549 37
  • 42 (a)
CG8850 37
  • 35 (a)
ine 37
  • 41 (a)
CG1732 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea snf-11 37
  • 47 (a)
snf-2 37
  • 30 (a)
snf-3 37
  • 42 (a)
snf-4 37
  • 35 (a)
snf-6 37
  • 30 (a)
snf-8 37
  • 24 (a)
snf-9 37
  • 32 (a)
snf-11 36
  • 46 (a)
OneToMany
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

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
VAR_020525 Cerebral creatine deficiency syndrome 1 (CCDS1)
rs1060453 -- 153,694,382(+) TACTC(A/G)GCCAG reference, synonymous-codon
rs2071028 -- 153,693,623(+) GCAGC(A/G)AGTGC intron-variant
VAR_075567 -
VAR_075566 Cerebral creatine deficiency syndrome 1 (CCDS1)

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

Variation tolerance for SLC6A8 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A8 Gene

HapMap Linkage Disequilibrium report
SLC6A8
Human Gene Mutation Database (HGMD)
SLC6A8

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

Disorders for SLC6A8 Gene

MalaCards: The human disease database

(17) MalaCards diseases for SLC6A8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebral creatine deficiency syndrome 1
  • creatine transporter deficiency
osteoporosis
  • osteoporosis, postmenopausal, susceptibility
creatine deficiency syndromes
  • cerebral creatine deficiency syndromes
slc6a8-related creatine transporter deficiency
  • mental retardation, x-linked, with creatine transport deficiency
creatine transporter deficiency
  • cerebral creatine deficiency syndrome 1
- elite association - COSMIC cancer census association via MalaCards

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:17465020, ECO:0000269 PubMed:23660394, ECO:0000269 PubMed:24123876, ECO:0000269 PubMed:25861866}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC6A8

Genetic Association Database (GAD)
SLC6A8
Human Genome Epidemiology (HuGE) Navigator
SLC6A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A8
genes like me logo Genes that share disorders with SLC6A8: view

No data available for Genatlas for SLC6A8 Gene

Publications for SLC6A8 Gene

  1. 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 67
  2. [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]. (PMID: 17385170) Campistol J. … Ribes A. (Rev Neurol 2007) 23 25 26
  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 23
  4. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. (PMID: 17603797) Battini R. … Cioni G. (Am. J. Med. Genet. A 2007) 3 23
  5. Spatiotemporal expression of the creatine metabolism related genes agat, gamt and ct1 during zebrafish embryogenesis. (PMID: 17486546) Wang L. … Zhang H. (Int. J. Dev. Biol. 2007) 25 26

Products for SLC6A8 Gene

Sources for SLC6A8 Gene

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