InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Slc12a6

Summary

InnateDB Protein

IDBP-196489.6

Last Modified

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

Gene Symbol

Slc12a6

Protein Name

solute carrier family 12, member 6

Synonyms

9530023I19Rik; gaxp; KCC3;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000028549

InnateDB Gene

IDBG-196487 (Slc12a6)

Protein Structure

UniProt Annotation

Function

Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells. {ECO:0000269PubMed:10347194}.

Subcellular Localization

Basolateral cell membrane {ECO:0000269PubMed:16048901}; Multi-pass membrane protein {ECO:0000269PubMed:16048901}.

Disease Associations

Note=Defects in Slc12a6 are a cause of locomotor abnormalities beginning at 2 weeks of age. Slc12a6 deficient mice show hypomyelination, decompaction of myelin, demyelination, axonal swelling and fiber degeneration. {ECO:0000269PubMed:12368912}.

Tissue Specificity

Isoform 1 is highly expressed throughout the brain and detected at lower levels in kidney. Highly expressed in highly myelinated white matter of the brain, but not in gray matter. Detected in the corpus callosum, in packed cell layers of the hippocampus and in Purkinje neurons within the cerebellum. Highly expressed in white matter in the spinal cord, but not in dorsal root ganglia or sciatic nerve. Colocalizes with the oligodendrocyte marker CNP. Isoform 2 is highly expressed in kidney, but not detected in brain. {ECO:0000269PubMed:16048901}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

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

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0015377	cation:chloride symporter activity
GO:0015379	potassium:chloride symporter activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0006821	chloride transport
GO:0055085	transmembrane transport
GO:0071477	cellular hypotonic salinity response
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane

Protein Structure and Domains

PDB ID

MGI:2135960

InterPro

IPR000076 K-Cl co-transporter
IPR004841 Amino acid permease/ SLC12A domain
IPR004842 Na/K/Cl co-transporter superfamily
IPR018491 K/Cl co-transporter, type 1/type 3

PFAM

PF00324
PF03522

PRINTS

PR01081

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q924N4