Homo sapiens Protein: SLC24A4
Summary
InnateDB Protein IDBP-602508.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC24A4
Protein Name solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000433302
InnateDB Gene IDBG-16940 (SLC24A4)
Protein Structure
UniProt Annotation
Function Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity). {ECO:0000250}.
Subcellular Localization Membrane; Multi-pass membrane protein.
Disease Associations Note=SLC24A4 mutations may be a cause of autosomal recessive hypomineralized amelogenesis imperfecta (AI), a defect of enamel formation characterized by variable degrees of incomplete mineralization of the enamel matrix, typically with a near-normal enamel matrix volume prior to posteruptive changes and premature failure.
Tissue Specificity Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0015293 symporter activity
Biological Process
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007608 sensory perception of smell
GO:0050896 response to stimulus
GO:0055085 transmembrane transport
GO:0097186 amelogenesis
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR004481 Sodium/potassium/calcium exchanger
IPR004837 Sodium/calcium exchanger membrane region
PFAM PF01699
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NFF2
PhosphoSite PhosphoSite-Q8NFF2
TrEMBL G3V505
UniProt Splice Variant
Entrez Gene 123041
UniGene Hs.385530
RefSeq NP_705933
HUGO HGNC:10978
OMIM 609840
CCDS CCDS45155
HPRD 15353
IMGT
EMBL AF520704 AF520705 AF520706 AK096171 AK295059 AL118559 AL834225 BC069653 CH471061
GenPept AAH69653 AAM76070 AAM76071 AAM76072 BAC04715 BAG58108 CAD38903 EAW81485