InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC12A4

Summary

InnateDB Protein

IDBP-751193.3

Last Modified

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

Gene Symbol

SLC12A4

Protein Name

Synonyms

KCC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000458902

InnateDB Gene

IDBG-37737 (SLC12A4)

Protein Structure

UniProt Annotation

Function

Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity. {ECO:0000250}.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Tissue Specificity

Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0015377	cation:chloride symporter activity
GO:0015379	potassium:chloride symporter activity
GO:0019901	protein kinase binding

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0006821	chloride transport
GO:0006884	cell volume homeostasis
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005765	lysosomal membrane
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000076 K-Cl co-transporter
IPR000622 K/Cl co-transporter, type 1
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
PR01082

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UP95