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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7881

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

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 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

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
Others KCNAB1 NCBI