InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC6A5

Summary

InnateDB Protein

IDBP-584615.3

Last Modified

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

Gene Symbol

SLC6A5

Protein Name

solute carrier family 6 (neurotransmitter transporter, glycine), member 5

Synonyms

GLYT-2; GLYT2; HKPX3; NET1;

Species

Homo sapiens

Ensembl Protein

ENSP00000434364

InnateDB Gene

IDBG-35956 (SLC6A5)

Protein Structure

UniProt Annotation

Function

Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Hyperekplexia 3 (HKPX3) [MIM:614618]: A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. {ECO:0000269PubMed:16751771}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in medulla, and to a lesser extent in spinal cord and cerebellum.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005328	neurotransmitter:sodium symporter activity
GO:0015375	glycine:sodium symporter activity

Biological Process

GO:0006810	transport
GO:0006836	neurotransmitter transport
GO:0007268	synaptic transmission
GO:0036233	glycine import
GO:0055085	transmembrane transport
GO:0060012	synaptic transmission, glycinergic