CACNB1 - calcium voltage-gated channel auxiliary subunit beta 1 Gene

中文名称：钙电压门控通道辅助亚基 beta 1

种属: Homo sapiens

同用名: CAB1; CCHLB1; CACNLB1

基因 ID: 782 | 基因类型: protein coding

关于 CACNB1

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,173,453-39,197,669 (from NCBI)

This gene has 11 transcripts (splice variants), 108 orthologues and 3 paralogues. Broad expression in brain (RPKM 12.9), skin (RPKM 4.4) and 17 other tissues.

功能概要

该基因编码的蛋白质属于钙通道β亚基家族。它通过调节 G 蛋白抑制、增加峰值钙电流、控制 alpha-1 亚基膜靶向和改变激活和失活的电压依赖性，在钙通道中发挥重要作用。选择性剪接发生在该位点，并且已经鉴定出编码三种不同亚型的三种转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to the Calcium Channel beta subunit family. It plays an important role in the Calcium Channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

CACNB1 基因产物(3)

mRNA	Protein	Name
NM_000723.5	NP_000714.3	voltage-dependent L-type calcium channel subunit beta-1 isoform 1
NM_199247.3	NP_954855.1	voltage-dependent L-type calcium channel subunit beta-1 isoform 2
NM_199248.3	NP_954856.1	voltage-dependent L-type calcium channel subunit beta-1 isoform 3

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 channel regulator activity	IGI IGI: 通过遗传相互作用推断	21883149	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17052716	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to amyloid-beta	IGI IGI: 通过遗传相互作用推断	21883149	GOA
involved in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IGI IGI: 通过遗传相互作用推断	21883149	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of voltage-gated calcium channel complex	IGI IGI: 通过遗传相互作用推断	21883149	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

CACNB1 蛋白结构

VGCC_beta4Aa_N

Guanylate_kin

0
100
200
300
400
500
598 a.a.

蛋白主名

其他名称

voltage-dependent L-type calcium channel subunit beta-1

calcium channel voltage-dependent subunit beta 1

关联疾病

疾病名称

别名

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Myopathy, Congenital, Bailey-Bloch

Native American Myopathy	Nam
MYPBB	Myopathy, Congenital, Baily-Bloch
Anti-Hmg-Coa Myopathy	Anti-Srp Myopathy
Autoimmune Necrotizing Myositis	Imnm
Immune Myopathy With Myocyte Necrosis	Immune-Mediated Necrotizing Myopathy
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia	Necrotizing Autoimmune Myopathy
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome	Congenital Myopathy With Cleft Palate And Malignant Hyperthermia

Alzheimer Disease 8

Ad8	Alzheimer'S Disease 8
Alzheimer Disease, Familial, 8	Alzheimer Disease, Familial 8
Alzheimer'S Disease 8, Late Onset

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

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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-RS01805	CACNB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	CACNB1	VGNC	VGNC:60306
Canis familiaris	CACNB1	VGNC	VGNC:38644
Mus musculus	CACNB1	MGD	MGI:102522
Rattus norvegicus	CACNB1	RGD	RGD:68382
Macaca mulatta	CACNB1	VGNC	VGNC:70509
Bos taurus	CACNB1	VGNC	VGNC:26683

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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）

CACNB1 - calcium voltage-gated channel auxiliary subunit beta 1 Gene

关于 CACNB1

功能概要

CACNB1 基因产物(3)

CACNB1 蛋白结构

关联疾病

直系同源

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CACNB1 - calcium voltage-gated channel auxiliary subunit beta 1 Gene

关于 CACNB1

功能概要

CACNB1 基因产物(3)

CACNB1 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