InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC6A8

Summary

InnateDB Protein

IDBP-89553.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC6A8

Protein Name

solute carrier family 6 (neurotransmitter transporter, creatine), member 8

Synonyms

CCDS1; CRT; CRTR; CT1; CTR5;

Species

Homo sapiens

Ensembl Protein

ENSP00000253122

InnateDB Gene

IDBG-89549 (SLC6A8)

Protein Structure

UniProt Annotation

Function

Required for the uptake of creatine in muscles and brain.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

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:0000269PubMed:11898126, ECO:0000269PubMed:12210795, ECO:0000269PubMed:15154114, ECO:0000269PubMed:17101918, ECO:0000269PubMed:24123876}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. {ECO:0000269PubMed:7945388, ECO:0000269PubMed:7953292}.

Comments

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:1902598	creatine transmembrane transport