Sodium- and chloride-dependent creatine transporter 1

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.^[5][6]

SLC6A8
Identifiers
Aliases	SLC6A8, CCDS1, CRT, CRTR, CT1, CTR5, solute carrier family 6 member 8
External IDs	OMIM: 300036; MGI: 2147834; HomoloGene: 4113; GeneCards: SLC6A8; OMA:SLC6A8 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 153,687,926 bp[1] End 153,696,588 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 37.38 cM Start 72,716,756 bp[2] End 72,726,108 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior olivary nucleus apex of heart mucosa of ileum optic nerve dorsal motor nucleus of vagus nerve muscle of thigh gastrocnemius muscle left ventricle right auricle of heart postcentral gyrus Top expressed in seminal vesicula gastrula decidua left colon duodenum ileum myocardium of ventricle lip jejunum digastric muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function neurotransmitter:sodium symporter activity creatine transmembrane transporter activity symporter activity creatine:sodium symporter activity molecular function choline transmembrane transporter activity Cellular component membrane plasma membrane integral component of plasma membrane integral component of membrane glutamatergic synapse integral component of postsynaptic membrane Biological process muscle contraction sodium ion transport ion transport creatine metabolic process neurotransmitter transport creatine transmembrane transport choline transport embryonic brain development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6535 102857 Ensembl ENSG00000130821 ENSMUSG00000019558 UniProt P48029 Q8VBW1 RefSeq (mRNA) NM_005629 NM_001142805 NM_001142806 NM_001142809 NM_001142810 NM_133987 RefSeq (protein) NP_001136277 NP_001136278 NP_005620 NP_001136281 NP_001136282 NP_598748 Location (UCSC) Chr X: 153.69 – 153.7 Mb Chr X: 72.72 – 72.73 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1.

See also

• Sodium:neurotransmitter symporter
• Solute carrier family