SLC8B1 - solute carrier family 8 member B1 Gene

中文名称：溶质载体家族 8 成员 B1

种属: Homo sapiens

同用名: NCLX; NCKX6; SLC24A6

基因 ID: 80024 | 基因类型: protein coding

关于 SLC8B1

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:113,298,771-113,335,109 (from NCBI)

This gene has 17 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in ovary (RPKM 24.7), adrenal (RPKM 19.7) and 25 other tissues.

功能概要

SLC24A6 属于钾依赖性钠/钙交换剂家族，通过 4 个钠离子对 1 个钙离子和 1 个钾离子的电生反转运来维持细胞钙稳态 (Cai 和 Lytton，2004 [PubMed 14625281]) 。[OMIM 提供, 2008 年 3 月]

SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]

SLC8B1 基因产物(3)

mRNA	Protein	Name
NM_001330466.2	NP_001317395.1	mitochondrial sodium/calcium exchanger protein isoform 2 precursor
NM_001358345.2	NP_001345274.1	mitochondrial sodium/calcium exchanger protein isoform 1 precursor
NM_024959.4	NP_079235.2	mitochondrial sodium/calcium exchanger protein isoform 1 precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables calcium:sodium antiporter activity	IDA IDA: 通过直接分析推断	15060069	GOA
enables calcium:sodium antiporter activity	IMP IMP: 通过突变表型推断	20018762	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	20018762	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium export from the mitochondrion	IDA IDA: 通过直接分析推断	24898248	GOA
involved in glucose homeostasis	IDA IDA: 通过直接分析推断	23056385	GOA
involved in mitochondrial calcium ion homeostasis	IDA IDA: 通过直接分析推断	24898248	GOA
involved in mitochondrial calcium ion homeostasis	IMP IMP: 通过突变表型推断	20018762	GOA
involved in mitochondrial calcium ion transmembrane transport	IDA IDA: 通过直接分析推断	23056385	GOA
acts upstream of or within mitochondrial calcium ion transmembrane transport	IMP IMP: 通过突变表型推断	20018762	GOA
involved in regulation of cardiac muscle cell membrane potential	IMP IMP: 通过突变表型推断	20018762	GOA
involved in regulation of cytosolic calcium ion concentration	IMP IMP: 通过突变表型推断	20018762	GOA
involved in regulation of insulin secretion	IDA IDA: 通过直接分析推断	23056385	GOA
involved in regulation of store-operated calcium entry	IDA IDA: 通过直接分析推断	28219928	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial crista	IDA IDA: 通过直接分析推断	20018762	GOA
located in mitochondrial membrane	IDA IDA: 通过直接分析推断	23056385	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC8B1 蛋白结构

Na_Ca_ex

0
100
200
300
400
500
584 a.a.

蛋白主名

其他名称

mitochondrial sodium/calcium exchanger protein

Na(+)/K(+)/Ca(2+)-exchange protein 6

关联疾病

疾病名称

别名

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

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome	WHS
Chromosome 4p16.3 Deletion Syndrome	Wittwer Syndrome
4p- Syndrome	Pitt Syndrome
4p Deletion Syndrome	Distal Deletion 4p
Distal Monosomy 4p	Telomeric Deletion 4p
Prds	4p Syndrome
Chromosome 4p Syndrome	Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
Wolf Syndrome	Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy	Del Syndrome
Monosomy 4p	Partial Monosomy 4p
Chromosome 4 Short Arm Deletion

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13340	SLC8B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SLC8B1	VGNC	VGNC:34938
Felis catus	SLC8B1	VGNC	VGNC:65431
Rattus norvegicus	SLC8B1	RGD	RGD:1565818
Mus musculus	SLC8B1	MGD	MGI:2180781
Macaca mulatta	SLC8B1	VGNC	VGNC:100106
Canis familiaris	SLC8B1	VGNC	VGNC:46483

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SLC8B1 - solute carrier family 8 member B1 Gene

关于 SLC8B1

功能概要

SLC8B1 基因产物(3)

SLC8B1 蛋白结构

关联疾病

直系同源

热门区域

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SLC8B1 - solute carrier family 8 member B1 Gene

关于 SLC8B1

功能概要

SLC8B1 基因产物(3)

SLC8B1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z