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FLASH GENE

Symbol

SLC24A1

contributors: mct - updated : 10-09-2009

HGNC name	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
HGNC id	10975

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease
Location	15q22.31      Physical location : 65.914.269 - 65.948.597
Synonym name	retinal rod Na+/Ca+/K+ exchanger
	Na(+)/K(+)/Ca(2+)-exchange protein 1
Synonym symbol(s)	NCKX1, KIAA0702, RODX, NCKX, HsT17412

DNA

TYPE	functioning gene
STRUCTURE	34.33 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see BBS4 BBS4

RNA

TRANSCRIPTS	type	messenger

text	with two alternatively spliced forms (PMID: 9856482)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004727 10 - 5768 NP_004718 - 1099 - 2010 20850105

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye       specific

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth vessel

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two large hydrophilic loops
	two sets of transmembrane spanning segments (TMs)
	the first large hydrophilic loop is located extracellularly at the N-terminus
	the other is cytoplasmic and separates the two sets of TMs

HOMOLOGY

Homologene

FAMILY	sodium/potassium/calcium exchanger family
	SLC24A subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	calcium extrusion protein,K dependent (Na+) (Ca2+) exchanger regulating intracellular Ca2+ concentration
	polytopic membrane protein that plays a critical role in Ca(2+) homeostasis in retinal rod and cone photoreceptors
	probably play a particularly prominent role in regulating Ca2+ flux in environments which experience wide and frequent fluctuations in Na+ concentration
	bidirectional transporters normally extruding Ca(2+) from the cell (forward exchange), but also able to carry Ca(2+) into the cell (reverse exchange) when the transmembrane Na(+) gradient is reversed
	indispensible role of SLC24A1 in retinal function and/or maintenance
	RGS9 and SLC24A1 are active in phototransduction in rods and cones

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CSNB12

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS