1. Gene
  2. SLC8A1 - solute carrier family 8 member A1 Gene

SLC8A1 - solute carrier family 8 member A1 Gene

中文名称:溶质载体家族 8 成员 A1

种属: Homo sapiens

同用名: NCX1

基因 ID: 6546 | 基因类型: protein coding

关于 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.

功能概要

在心肌细胞中,CA (2+) 浓度在收缩期间的高水平和舒张期间的低水平之间交替。收缩期间 CA (2+) 浓度的增加主要是由于细胞内储存的 CA (2+) 释放。然而,一些 CA (2+) 也通过肌膜 (质膜) 进入细胞。在松弛过程中,CA (2+) 被隔离在细胞内储存中。为了防止细胞内储存超载,必须从细胞中挤出穿过肌膜进入的 CA (2+) 。 Na (+) -Ca (2+) 交换器是 CA (2+) 在松弛过程中从细胞中挤出的主要机制。在心脏中,交换剂可能在洋地黄作用中起关键作用。交换器是使心肌细胞在兴奋后恢复到静息状态的主要机制。[OMIM 提供,2004 年 4 月]

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 基因产物(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

SLC8A1 蛋白结构

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)

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  • 973 a.a.
蛋白主名 其他名称

sodium/calcium exchanger 1

Na(+)/Ca(2+)-exchange protein 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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