InnateDB Protein
|
IDBP-243948.7
|
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
|
ENSP00000376948
|
InnateDB Gene
|
IDBG-16940 (SLC24A4)
|
Protein Structure
|
|
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 |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR004481
Sodium/potassium/calcium exchanger
IPR004837
Sodium/calcium exchanger membrane region
|
PFAM |
PF01699
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8NFF2
|
PhosphoSite |
PhosphoSite-Q8NFF2
|
TrEMBL |
G3V505
|
UniProt Splice Variant |
|
Entrez Gene |
123041
|
UniGene |
Hs.385530
|
RefSeq |
NP_705934
|
HUGO |
HGNC:10978
|
OMIM |
609840
|
CCDS |
CCDS45156
|
HPRD |
15353
|
IMGT |
|
EMBL |
AF520704
AF520705
AF520706
AK096171
AK295059
AK295234
AL118559
AL834225
BC069653
CH471061
|
GenPept |
AAH69653
AAM76070
AAM76071
AAM76072
BAC04715
BAG58108
BAG58227
CAD38903
EAW81485
|
|
|