KCNAB1 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | KCNAB1 |
| Official Name | potassium voltage-gated channel subfamily A member regulatory beta subunit 1 [Source:HGNC Symbol;Acc:HGNC:6228] |
| Ensembl ID | ENSG00000169282 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily A member regulatory beta subunit 1, potassium voltage-gated channel subfamily A regulatory beta subunit 1, K+ channel Beta1a chain |
| Synonyms | AKR6A3, Akr8a8, hKvb3, hKvBeta3, KCNA1B, Kvb1.3, KV-BETA-1, Kv beta1.1, KvBeta3, KV-β-1, mKv(beta)1, mKv(β)1, Potassium channel beta1 subunit, potassium voltage-gated channel, shaker-related subfamily, beta member 1, potassium voltage-gated channel, shaker-related subfamily, β member 1, potassium voltage-gated channel subfamily A regulatory beta subunit 1, potassium voltage-gated channel subfamily A regulatory β subunit 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCNAB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NADPH binding
- Aldo-keto reductase (AKR) superfamily
- aldo-keto reductase
- Aldo/keto reductase family
- potassium channel regulator
- ion channel binding
- protein domain specific binding
- protein binding
- voltage-dependent potassium channel beta subunit, animal
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- prostate cancer
- Huntington disease
- acute myeloid leukemia
- age-related nuclear cataract disorder
- COVID-19
- restless legs syndrome
- hypertension
- preterm birth
- multinodular goiter
- glioblastoma
role in cell
- activation in
- expression in
- action potential
- afterhyperpolarization
- long-term potentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- axon component
- Cytoplasm
- cytosol
- cytoplasmic face of plasma membrane
- synaptic membrane
- dendrite initial segments
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNAB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- potassium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- potassium channel complex
- voltage-gated potassium channel complex
- cytosol
- juxtaparanode region of axon
- plasma membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity
- protein domain specific binding
- NADPH binding
- aldo-keto reductase (NADP) activity
- ion channel binding
- potassium channel regulator activity