2. Gene
  3. KCNAB1 - potassium voltage-gated channel subfamily A regulatory beta subunit 1 Gene

KCNAB1 - potassium voltage-gated channel subfamily A regulatory beta subunit 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钾电压门控通道亚科 A 调节 β 亚基 1

种属: Homo sapiens

同用名: hKvb3; AKR6A3; KCNA1B; Kvb1.3; hKvBeta3; KV-BETA-1

基因 ID: 7881 | 基因类型: protein coding

关于 KCNAB1

Cytogenetic location: 3q25.31 Genomic coordinates (GRCh38): 3:156,118,211-156,539,138 (from NCBI)

This gene has 15 transcripts (splice variants), 292 orthologues and 16 paralogues. Broad expression in thyroid (RPKM 8.2), fat (RPKM 4.6) and 20 other tissues.

功能概要

从功能和结构的角度来看，钾通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。四种序列相关的钾通道基因——shaker、shaw、shab 和 shal——已在果蝇中被鉴定出来，并且每一种都被证明具有人类同系物。该基因编码钾通道、电压门控、摇床相关亚家族的成员。该成员包括不同的亚型，这些亚型由该基因的可变剪接转录变体编码。其中一些亚型是 β 亚基，它们与 α 亚基形成异多聚体复合物并调节成孔 α 亚基的活性。[RefSeq 提供，2015 年 4 月]

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related Potassium Channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the Potassium Channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]

KCNAB1 基因产物(5)

mRNA Protein Name
NM_001308217.1 NP_001295146.1 voltage-gated potassium channel subunit beta-1 isoform 4
NM_001308222.1 NP_001295151.1 voltage-gated potassium channel subunit beta-1 isoform 5
NM_003471.3 NP_003462.2 voltage-gated potassium channel subunit beta-1 isoform 2
NM_172159.3 NP_751891.1 voltage-gated potassium channel subunit beta-1 isoform 3
NM_172160.3 NP_751892.1 voltage-gated potassium channel subunit beta-1 isoform 1

KCNAB1 蛋白结构

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (104 - 407)

  • 0
  • 100
  • 200
  • 300
  • 419 a.a.
蛋白主名 其他名称

voltage-gated potassium channel subunit beta-1

K(+) channel subunit beta-1

关联疾病

疾病名称 别名
Episodic Ataxia, Type 1

Episodic Ataxia Type 1

Episodic Ataxia/Myokymia Syndrome

EA1

Episodic Ataxia With Myokymia

Eam

Ataxia, Episodic, With Myokymia

Aem

Paroxysmal Ataxia With Neuromyotonia, Hereditary

Myokymia With Periodic Ataxia

Episodic Ataxia 1

Aemk

Ea-1

Paroxysmal Ataxia With Neuromyotonia

Myokymia Isolated 1

MK1

Ataxia, Episodic, Type 1

Continuous Muscle Fiber Activity, Hereditary

Isaacs Syndrome
Cataract 28

CTRCT28

Cataract, Age-Related Cortical, 1

Arcc1

Cataract 28, Age-Related Cortical, Susceptibility To

Cataract 28, Age-Related Cortical

Age-Related Cortical Cataract 1
Epilepsy, Familial Temporal Lobe, 3

Epilepsy, Familial Mesial Temporal Lobe

Fmtle

Familial Temporal Lobe Epilepsy 3

ETL3

Familial Mesial Temporal Lobe Epilepsy
Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1
Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07103 KCNAB1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta KCNAB1 VGNC VGNC:73966
Bos taurus KCNAB1 VGNC VGNC:30427
Canis familiaris KCNAB1 VGNC VGNC:42233
Mus musculus KCNAB1 MGD MGI:109155
Felis catus KCNAB1 VGNC VGNC:67894
Rattus norvegicus KCNAB1 RGD RGD:61827
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