Homo sapiens Protein: SLC12A4
Summary
InnateDB Protein IDBP-37741.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC12A4
Protein Name solute carrier family 12 (potassium/chloride transporters), member 4
Synonyms KCC1;
Species Homo sapiens
Ensembl Protein ENSP00000318557
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
IPR029045 ClpP/crotonase-like domain
PFAM PF00324
PF03522
PRINTS PR01081
PR01082
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UP95
PhosphoSite PhosphoSite-Q9UP95
TrEMBL J3QRE2
UniProt Splice Variant
Entrez Gene 6560
UniGene Hs.702218
RefSeq NP_005063
HUGO HGNC:10913
OMIM 604119
CCDS CCDS10855
HPRD 04987
IMGT
EMBL AC040162 AF047338 AF053402 AF054505 AF054506 AK293956 AK299042 AK302790 AK316415 AY026038 BC021193 U55054
GenPept AAC32815 AAC35282 AAC39684 AAC39685 AAC50563 AAH21193 AAK01946 BAG57330 BAG61116 BAG63994 BAH14786