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

Homo sapiens

Also known as hKvb3; AKR6A3; KCNA1B; Kvb1.3; hKvBeta3; KV-BETA-1

Gene ID: 7881 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Aldo_ket_red

0
100
200
300
419 a.a.

Protein Preferred Names

Protein Names

voltage-gated potassium channel subunit beta-1

K(+) channel subunit beta-1

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07103	KCNAB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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