SLC8A1 (solute carrier family 8 member A1)

2015-09-01  

Identity

HGNC
LOCATION
2p22.1
LOCUSID
ALIAS
NCX1
FUSION GENES

Other Information

Locus ID:

NCBI: 6546
MIM: 182305
HGNC: 11068
Ensembl: ENSG00000183023

Variants:

dbSNP: 6546
ClinVar: 6546
TCGA: ENSG00000183023
COSMIC: SLC8A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183023ENST00000332839P32418
ENSG00000183023ENST00000402441P32418
ENSG00000183023ENST00000403092P32418
ENSG00000183023ENST00000405269P32418
ENSG00000183023ENST00000405901P32418
ENSG00000183023ENST00000406391P32418
ENSG00000183023ENST00000406785P32418
ENSG00000183023ENST00000407929E7EV41
ENSG00000183023ENST00000408028P32418
ENSG00000183023ENST00000417271E9PB98
ENSG00000183023ENST00000448531E9PCL8
ENSG00000183023ENST00000455476E9PCL8

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Olfactory transductionKEGGko04740
Calcium signaling pathwayKEGGhsa04020
Olfactory transductionKEGGhsa04740
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet calcium homeostasisREACTOMER-HSA-418360
Reduction of cytosolic Ca++ levelsREACTOMER-HSA-418359
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Sodium/Calcium exchangersREACTOMER-HSA-425561
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
200187622010NCLX is an essential component of mitochondrial Na+/Ca2+ exchange.219
224564742012Enhanced sarcoplasmic reticulum Ca2+ leak and increased Na+-Ca2+ exchanger function underlie delayed afterdepolarizations in patients with chronic atrial fibrillation.171
162929832005Ankyrin-B coordinates the Na/K ATPase, Na/Ca exchanger, and InsP3 receptor in a cardiac T-tubule/SR microdomain.97
178461262007Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
147368812004Ca(2+) signaling by TRPC3 involves Na(+) entry and local coupling to the Na(+)/Ca(2+) exchanger.48
149810872004Mechanism of collagen activation in human platelets.31
218734292011Ca2+ influx through reverse mode Na+/Ca2+ exchange is critical for vascular endothelial growth factor-mediated extracellular signal-regulated kinase (ERK) 1/2 activation and angiogenic functions of human endothelial cells.30
218581952011Sodium-calcium exchange in intracellular calcium handling of human airway smooth muscle.27
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26

Citation

Dessen P

SLC8A1 (solute carrier family 8 member A1)

Atlas Genet Cytogenet Oncol Haematol. 2015-09-01

Online version: http://atlasgeneticsoncology.org/gene/55403/slc8a1-(solute-carrier-family-8-member-a1)