SLC8A1 - solute carrier family 8 member A1 Gene

Also Known as NCX1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6546

About SLC8A1

Cytogenetic location: 2p22.1 Genomic coordinates (GRCh38): 2:40,097,270-40,512,435 (from NCBI)

This gene has 19 transcripts (splice variants), 287 orthologues and 7 paralogues. Broad expression in heart (RPKM 35.6), endometrium (RPKM 9.9) and 16 other tissues.

Summary

In cardiac myocytes, CA(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in CA(2+) concentration during contraction is primarily due to release of CA(2+) from intracellular stores. However, some CA(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, CA(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the CA(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the CA(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]

SLC8A1 Products (23)

mRNA Protein Name
NM_001112800.4 NP_001106271.1 sodium/calcium exchanger 1 isoform B precursor
NM_001112801.3 NP_001106272.1 sodium/calcium exchanger 1 isoform C precursor
NM_001112802.2 NP_001106273.1 sodium/calcium exchanger 1 isoform D precursor
NM_001252624.2 NP_001239553.1 sodium/calcium exchanger 1 isoform E precursor
NM_001351483.2 NP_001338412.1 sodium/calcium exchanger 1 isoform F precursor
NM_001351484.2 NP_001338413.1 sodium/calcium exchanger 1 isoform F precursor
NM_001351485.2 NP_001338414.1 sodium/calcium exchanger 1 isoform F precursor
NM_001351486.2 NP_001338415.1 sodium/calcium exchanger 1 isoform G precursor
NM_001351487.2 NP_001338416.1 sodium/calcium exchanger 1 isoform H precursor
NM_001351488.2 NP_001338417.1 sodium/calcium exchanger 1 isoform H precursor
NM_001351489.2 NP_001338418.1 sodium/calcium exchanger 1 isoform H precursor
NM_001351490.2 NP_001338419.1 sodium/calcium exchanger 1 isoform I precursor
NM_001351491.2 NP_001338420.1 sodium/calcium exchanger 1 isoform I precursor
NM_001351492.2 NP_001338421.1 sodium/calcium exchanger 1 isoform I precursor
NM_001351493.2 NP_001338422.1 sodium/calcium exchanger 1 isoform E precursor
NM_001351494.2 NP_001338423.1 sodium/calcium exchanger 1 isoform D precursor
NM_001372263.2 NP_001359192.1 sodium/calcium exchanger 1 isoform A precursor
NM_001394103.1 NP_001381032.1 sodium/calcium exchanger 1 isoform A precursor
NM_001394104.1 NP_001381033.1 sodium/calcium exchanger 1 isoform B precursor
NM_001394105.1 NP_001381034.1 sodium/calcium exchanger 1 isoform H precursor
NM_001394106.1 NP_001381035.1 sodium/calcium exchanger 1 isoform D precursor
NM_001394107.1 NP_001381036.1 sodium/calcium exchanger 1 isoform D precursor
NM_021097.5 NP_066920.1 sodium/calcium exchanger 1 isoform A precursor
Molecular Function GO Annotation Evidence References Source
enables ankyrin binding IPI
IPI: Inferred from physical interaction
17178715 GOA
enables calcium:sodium antiporter activity IDA
IDA: Inferred from direct assay
1374913 GOA
enables calcium:sodium antiporter activity IMP
IMP: Inferred from mutant phenotype
25589784 GOA
enables calmodulin binding IDA
IDA: Inferred from direct assay
26421717 GOA
enables cytoskeletal protein binding IDA
IDA: Inferred from direct assay
16292983 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16292983 GOA
Biological Process GO Annotation Evidence References Source
involved in calcium ion export IDA
IDA: Inferred from direct assay
19481548 GOA
involved in calcium ion import IDA
IDA: Inferred from direct assay
1374913 GOA
involved in calcium ion transmembrane transport IGI
IGI: Inferred from genetic interaction
25589784 GOA
involved in cellular response to reactive oxygen species IDA
IDA: Inferred from direct assay
19481548 GOA
involved in intracellular sodium ion homeostasis IDA
IDA: Inferred from direct assay
1374913 GOA
involved in positive regulation of bone mineralization IMP
IMP: Inferred from mutant phenotype
25589784 GOA
involved in positive regulation of the force of heart contraction IMP
IMP: Inferred from mutant phenotype
15105296 GOA
involved in response to muscle stretch IMP
IMP: Inferred from mutant phenotype
15105296 GOA
involved in sodium ion export across plasma membrane IDA
IDA: Inferred from direct assay
19481548 GOA
involved in sodium ion import across plasma membrane IDA
IDA: Inferred from direct assay
1374913 GOA
involved in sodium ion transmembrane transport IGI
IGI: Inferred from genetic interaction
25589784 GOA
involved in sodium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
25589784 GOA
Cellular Component GO Annotation Evidence References Source
located in cell periphery IDA
IDA: Inferred from direct assay
21321244 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
1374913 GOA
located in synapse IDA
IDA: Inferred from direct assay
21382638 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC8A1 Protein Structure

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (90 - 249)

Calx-beta

Calx-beta: Calx-beta domain (397 - 496)

Calx-beta

Calx-beta: Calx-beta domain (527 - 626)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (809 - 961)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 973 a.a.
Protein Preferred Names Protein Names

sodium/calcium exchanger 1

  • Na(+)/Ca(2+)-exchange protein 1

SLC8A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC8A1 P32418 S100A5 Homo sapiens P33763
FPS
31837246
Intra
SLC8A1 P32418 S100A1 Homo sapiens P23297
FPS
31837246
Cross: Cross-species interaction Intra: Intraspecies interaction

SLC8A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82586 NCX1 Antibody (YA2331) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Megacolon
  • Dilatation Of Colon

Penile Cancer
  • Penis Carcinoma

  • Carcinoma Of Penis

  • Penile Neoplasm

  • Penile Carcinoma

  • Penile Neoplasms

  • Malignant Neoplasm Of Penis

  • Ca Penis

  • Malignant Neoplasm Of Body Of Penis

  • Malignant Penile Tumor

  • Penile Ca

Arrhythmogenic Right Ventricular Cardiomyopathy
  • Arrhythmogenic Right Ventricular Dysplasia

  • Arvc

  • Arvd

  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Arvc Cardiomyopathy

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

  • Arvd/C

  • Right Ventricular Dysplasia, Arrhythmogenic

  • Ventricular Dysplasia, Right, Arrhythmogenic

  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic

  • Dysplasia, Arrhythmogenic Right Ventricular

Ischemia
  • Acute Coronary Syndrome

Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
  • Catecholaminergic Polymorphic Ventricular Tachycardia 3

  • CPVT3

  • Cvpt3

  • Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3

Penile Benign Neoplasm
  • Neoplasm Of Penis

  • Penile Tumor

  • Cancer Of Penis

  • Carcinoma Of Penis

  • Malignant Neoplasm Of Penis, Unspecified

  • Malignant Neoplasm Of Penis, Part Unspecified

  • Malignant Tumour Of Penis

  • Penile Cancer

  • Primary Malignant Neoplasm Of Penis

  • Malignant Neoplasm Of Skin Of Penis Nos

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Anomaly

  • Coronary Artery Disease, Susceptibility To

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

Catecholaminergic Polymorphic Ventricular Tachycardia
  • Cpvt

  • Catecholamine-Induced Polymorphic Ventricular Tachycardia

  • Familial Polymorphic Ventricular Tachycardia

  • Malignant Paroxysmal Ventricular Tachycardia

  • Multifocal Ventricular Premature Beats

  • Stress-Induced Polymorphic Ventricular Tachycardia

  • Bidirectional Tachycardia Induced By Catecholamine

  • Double Tachycardia Induced By Catecholamines

  • Polymorphic Catecholergic Ventricular Tachycardia

  • Syncopal Paroxysmal Tachycardia

  • Bidirectional Tachycardia Induced By Catecholamines

  • Fpvt

  • Bidirectional Ventricular Tachycardia Induced By Catecholamine

  • Polymorphic Ventricular Tachycardia Induced By Catecholamines

  • Ventricular Tachycardia, Catecholaminergic Polymorphic

  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

  • Familial Ventricular Tachycardia

  • Multifocal Pvcs

  • Multifocal Premature Ventricular Beats

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SLC8A1 RGD RGD:3717
Canis familiaris SLC8A1 VGNC VGNC:46480
Felis catus SLC8A1 VGNC VGNC:81221
Bos taurus SLC8A1 VGNC VGNC:34935
Mus musculus SLC8A1 MGD MGI:107956
Macaca mulatta SLC8A1 VGNC VGNC:77634
Others SLC8A1 NCBI