Version 5.4
Homo sapiens Gene: SLC6A8
Summary
InnateDB Gene IDBG-89549.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC6A8
Gene Name solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Synonyms CCDS1; CRT; CRTR; CT1; CTR5
Species Homo sapiens
Ensembl Gene ENSG00000130821
Encoded Proteins
IDBP-89553
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
IDBP-382933
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
IDBP-382935
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
IDBP-382940
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
IDBP-382942
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
IDBP-382943
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:153688099-153696593
Strand Forward strand
Band q28
Transcripts
ENST00000253122 ENSP00000253122
ENST00000430077 ENSP00000403041
ENST00000429147 ENSP00000404046
ENST00000413787 ENSP00000400463
ENST00000442457 ENSP00000403682
ENST00000457723 ENSP00000394742
ENST00000476466
ENST00000466243
ENST00000467402
ENST00000485324
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005308 creatine transmembrane transporter activity
GO:0005328 neurotransmitter:sodium symporter activity
Biological Process
GO:0006600 creatine metabolic process
GO:0006810 transport
GO:0006814 sodium ion transport
GO:0006836 neurotransmitter transport
GO:0006936 muscle contraction
GO:0008150 biological_process
GO:0015881 creatine transport
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
GO:1902598 creatine transmembrane transport
Cellular Component
GO:0005575 cellular_component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000019558
View Gene Order
ENSBTAG00000009959
Not yet available
Pathways
NETPATH
REACTOME
REACT_813
Creatine metabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.540696
RefSeq NM_001142805 NM_001142806 NM_005629
HUGO
OMIM
CCDS CCDS14726 CCDS48190
HPRD 02073
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca