• Gene id: 6535

Gene Summary

• Gene Symbol: SLC6A8   Gene   UCSC   Ensembl
• Aliases: CCDS1, CRT, CRTR, CT1, CTR5
• Gene name: solute carrier family 6 member 8
• Alternate names: sodium- and chloride-dependent creatine transporter 1, creatine transporter 1, creatine transporter SLC6A8 variant D, solute carrier family 6 (neurotransmitter transporter), member 8, solute carrier family 6 (neurotransmitter transporter, creatine), membe,
• Gene location: Xq28 (153688296: 153696592)     Exons: 14     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300036

Protein Summary

• Protein general information: P48029  
  • Name: Sodium and chloride dependent creatine transporter 1 (CT1) (Creatine transporter 1) (Solute carrier family 6 member 8)
  • Length: 635  
  • Mass: 70,523
• Sequence:

  MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNV
  WRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIM
  VLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGL
  EVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL
  GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHIS
  KVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALC
  CALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSF
  FTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWG
  LHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM

• Structural information:
  • Interpro: IPR000175  IPR002984  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000253122
• Other Databases: GeneCards:  SLC6A8  Malacards:  SLC6A8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003674	molecular_function	ND	molecular function
GO:0005308	creatine transmembrane transporter activity	NAS	molecular function
GO:0005309	creatine:sodium symporter activity	TAS	molecular function
GO:0005328	neurotransmitter:sodium symporter activity	IEA	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0006810	transport	TAS	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0008150	biological_process	ND	biological process
GO:0015881	creatine transport	IMP	biological process
GO:0015881	creatine transport	NAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:1902598	creatine transmembrane transport	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005308	creatine transmembrane transporter activity	NAS	molecular function
GO:0005309	creatine:sodium symporter activity	IEA	molecular function
GO:0005309	creatine:sodium symporter activity	TAS	molecular function
GO:0005309	creatine:sodium symporter activity	TAS	molecular function
GO:0005328	neurotransmitter:sodium symporter activity	IEA	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0006810	transport	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0008150	biological_process	ND	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0015881	creatine transport	IMP	biological process
GO:0015881	creatine transport	NAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:1902598	creatine transmembrane transport	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005308	creatine transmembrane transporter activity	NAS	molecular function
GO:0005309	creatine:sodium symporter activity	TAS	molecular function
GO:0005309	creatine:sodium symporter activity	TAS	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0006810	transport	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0008150	biological_process	ND	biological process
GO:0015881	creatine transport	IMP	biological process
GO:0015881	creatine transport	NAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component

Diseases

Associated diseases	References
Cerebral creatine deficiency syndrome	OMIM: 300036
Mental retardation	GAD: 16738945
Non-syndromic X-linked mental retardation	KEGG: H00480
Autism	GAD: 18461508
Mental disorder	GAD: 16738945
Male factor infertility	MIK: 21190923
Syndromic X-linked mental retardation	KEGG: H00577
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 21190923

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21190923	Male infertility				Male infertility	SLC6A8
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq