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
About KCNAB1
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/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 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Episodic Ataxia, Type 1 |
|
|
| Cataract 28 |
|
|
| Epilepsy, Familial Temporal Lobe, 3 |
|
|
| Epilepsy, Familial Temporal Lobe, 1 |
|
|
| Episodic Ataxia |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
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 |