InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC12A6

Summary

InnateDB Protein

IDBP-5418.6

Last Modified

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

Gene Symbol

SLC12A6

Protein Name

solute carrier family 12 (potassium/chloride transporters), member 6

Synonyms

ACCPN; KCC3; KCC3A; KCC3B;

Species

Homo sapiens

Ensembl Protein

ENSP00000346112

InnateDB Gene

IDBG-5416 (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.

Subcellular Localization

Basolateral cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM:218000]: A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney. Isoform 5 is testis specific. Expressed in the proximal tubule of the kidney (at protein level). {ECO:0000269PubMed:16048901}.

Comments

Interactions

Number of Interactions

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

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0015079	potassium ion transmembrane transporter activity
GO:0015377	cation:chloride symporter activity
GO:0015379	potassium:chloride symporter activity
GO:0019901	protein kinase binding
GO:0035827	rubidium ion transmembrane transporter activity

Biological Process

GO:0001525	angiogenesis
GO:0006810	transport
GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0006821	chloride transport
GO:0010107	potassium ion import
GO:0035826	rubidium ion transport
GO:0055085	transmembrane transport
GO:0071476	cellular hypotonic response
GO:0071477	cellular hypotonic salinity response
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane

Protein Structure and Domains

PDB ID

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

Q9UHW9