Human Gene KCNB1 (ENST00000371741.6) from GENCODE V44
Description: Homo sapiens potassium voltage-gated channel subfamily B member 1 (KCNB1), mRNA. (from RefSeq NM_004975) RefSeq Summary (NM_004975): Voltage-gated potassium (Kv) 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, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000371741.6 Gencode Gene: ENSG00000158445.10 Transcript (Including UTRs) Position: hg38 chr20:49,363,877-49,482,668 Size: 118,792 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr20:49,372,983-49,482,480 Size: 109,498 Coding Exon Count: 2
ID:KCNB1_HUMAN DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily B member 1; AltName: Full=Delayed rectifier potassium channel 1; Short=DRK1; Short=h-DRK1; AltName: Full=Voltage-gated potassium channel subunit Kv2.1; FUNCTION: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. SUBUNIT: Heteromultimer with KCNG2, KCNG3, KCNG4, KCNS1, KCNS2, KCNS3 and KCNV2 (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. DOMAIN: The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. PTM: Highly phosphorylated on serine residues in the C-terminal. Differential phosphorylation on a subset of serines allows graded activity-dependent regulation of channel gating. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are all regulated by calcineurin-mediated dephosphorylation. Particularly, Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/ dephosphorylation activities. Tyr-128 can be dephosphorylated by PTPalpha and cyt-PTPepsilon. Phosphorylation levels on Ser-607 are supersensitive to neuronal activity. Phosphorylation on Ser-567 is reduced during postnatal development with low levels at P2 and P5. Levels then increase to reach adult levels by P14. Phosphorylation levels on Ser-564 and Ser-607 are greatly reduced during seizures, by 40% and 85% respectively (By similarity). SIMILARITY: Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily. SEQUENCE CAUTION: Sequence=AAA36156.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00520 - Ion transport protein PF02214 - BTB/POZ domain PF03521 - Kv2 voltage-gated K+ channel
ModBase Predicted Comparative 3D Structure on Q14721
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005216 ion channel activity GO:0005244 voltage-gated ion channel activity GO:0005249 voltage-gated potassium channel activity GO:0005251 delayed rectifier potassium channel activity GO:0005267 potassium channel activity GO:0005515 protein binding GO:0044325 ion channel binding GO:0046982 protein heterodimerization activity
Biological Process: GO:0001508 action potential GO:0006811 ion transport GO:0006813 potassium ion transport GO:0006887 exocytosis GO:0006904 vesicle docking involved in exocytosis GO:0007215 glutamate receptor signaling pathway GO:0010701 positive regulation of norepinephrine secretion GO:0031669 cellular response to nutrient levels GO:0033605 positive regulation of catecholamine secretion GO:0034765 regulation of ion transmembrane transport GO:0042593 glucose homeostasis GO:0045956 positive regulation of calcium ion-dependent exocytosis GO:0046676 negative regulation of insulin secretion GO:0050796 regulation of insulin secretion GO:0051260 protein homooligomerization GO:0055085 transmembrane transport GO:0071333 cellular response to glucose stimulus GO:0071805 potassium ion transmembrane transport GO:0072659 protein localization to plasma membrane GO:0090314 positive regulation of protein targeting to membrane GO:0098900 regulation of action potential GO:1900454 positive regulation of long term synaptic depression GO:2000671 regulation of motor neuron apoptotic process
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