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SLC24A1 - solute carrier family 24 member 1 Gene

Also Known as NCKX; RODX; NCKX1; CSNB1D; HsT17412

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9187

About SLC24A1

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,611,350-65,661,002 (from NCBI)

This gene has 12 transcripts (splice variants), 274 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 3.0), testis (RPKM 2.7) and 25 other tissues.

Summary

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

SLC24A1 Products (6)

mRNA	Protein	Name
NM_001254740.2	NP_001241669.1	sodium/potassium/calcium exchanger 1 isoform 2
NM_001301031.1	NP_001287960.1	sodium/potassium/calcium exchanger 1 isoform 3
NM_001301032.1	NP_001287961.1	sodium/potassium/calcium exchanger 1 isoform 4
NM_001301033.2	NP_001287962.1	sodium/potassium/calcium exchanger 1 isoform 5
NM_001411142.1	NP_001398071.1	sodium/potassium/calcium exchanger 1 isoform 6
NM_004727.3	NP_004718.1	sodium/potassium/calcium exchanger 1 isoform 1

SLC24A1 Protein Structure

Na_Ca_ex

0
200
400
600
800
1000
1099 a.a.

Protein Preferred Names	Protein Names
sodium/potassium/calcium exchanger 1	Na(+)/K(+)/Ca(2+)-exchange protein 1

SLC24A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC24A1	O60721	NCK1	Homo sapiens	P16333	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Night Blindness, Congenital Stationary, Type 1d	Congenital Stationary Night Blindness 1d CSNB1D Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1d, Autosomal Recessive Congenital Stationary Night Blindness 1d Autosomal Recessive Night Blindness, Congenital Stationary, 1d Complete Autosomal Recessive Csnb Blindness, Night, Stationary, Congenital, Type 1d
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Night Blindness	Nyctalopia
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis Imperfecta Hypomaturation Type 2a5 AI2A5 Amelogenesis Imperfecta, Type Iia5 Amelogenesis Imperfecta Hypomaturation Type Iia5 Amelogenesis Imperfecta Type Iia5 Amelogenesis Imperfecta, Hypomaturation Type, 2a5
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13084	SLC24A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC24A1	VGNC	VGNC:80844
Rattus norvegicus	SLC24A1	RGD	RGD:620080
Canis familiaris	SLC24A1	VGNC	VGNC:46285
Mus musculus	SLC24A1	MGD	MGI:2384871
Macaca mulatta	SLC24A1	VGNC	VGNC:77424
Bos taurus	SLC24A1	VGNC	VGNC:34736
Others	SLC24A1	NCBI