| Gene Information | |
|---|---|
| Gene Name | KCNB1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 858 |
| Protein Names | Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (h-DRK1) (Voltage-gated potassium channel subunit Kv2.1) |
| Target Name | potassium voltage-gated channel subfamily b member 1 |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000158445 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q14721 |
| Gene Card | KCNB1 |
| Uniprot ID | Q14721 |
| Pfam | PF02214; PF00520; PF03521 |
| In ASD | yes |
| Allosteric Prediction | yes (0.9999249) |
| Ortholog in Animals | Alpaca_ KCNB1 ( ortholog_one2one ) Dog_ KCNB1 ( ortholog_one2one ) GuineaPig_ KCNB1 ( ortholog_one2one ) Macaque_ KCNB1 ( ortholog_one2one ) Mouse_ Kcnb1 ( ortholog_one2one ) Pig_ KCNB1 ( ortholog_one2one ) Rat_ Kcnb1 ( ortholog_one2one ) Rabbit_ KCNB1 ( ortholog_one2one ) |
| Ohnologs | KCNS2, KCNF1, KCNV1, KCNG4, KCNS3, KCNG2, KCNB2 |
| Paralogs | KCNS1, KCND1, KCNA7, KCNB2, KCNG3, KCNQ1, KCNQ3, KCNC4, KCNV1, KCNA1, KCNQ4, KCNA10, KCNC3, KCNV2, KCND3, KCNQ2, KCNA6, KCNA2, KCNA5, KCNG1, KCND2, KCNC1, KCNC2, KCNA4, KCNA3, KCNQ5, KCNF1, KCNG2, KCNG4, KCNS3, KCNS2 |
| Tissue | adipose.tissue, brain, cerebral.cortex, pineal.gland |
| Tissue Specificity | Expressed in neocortical pyramidal cells (PubMed:24477962). Expressed in pancreatic beta cells (at protein level) (PubMed:12403834, PubMed:14988243). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland (PubMed:19074135). Expressed in the cortex, amygdala, cerebellum, pons, thalamus, hypothalamus, hippocampus and substantia nigra (PubMed:19074135). {ECO:0000269|PubMed:12403834, ECO:0000269|PubMed:14988243, ECO:0000269|PubMed:19074135, ECO:0000269|PubMed:24477962}. |
| Pharmacological Animal Models | 0.160618(Chimpanzee);0.079075(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 7RE5 (X-ray 2.50A ) 7SPD (X-ray 2.70A ) |
| DBSNP | rs1555889130 rs587777848 rs587777849 rs587777850 rs2229006 rs2229006 rs34467662 rs34280195 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:10484328, ECO:0000269|PubMed:11852086, ECO:0000269|PubMed:12060745, ECO:0000269|PubMed:12560340, ECO:0000269|PubMed:1283219, ECO:0000269|PubMed:19074135, ECO:0000269|PubMed:19223394, ECO:0000269|PubMed:19717558, ECO:0000269|PubMed:24477962, ECO:0000269|PubMed:24901643, ECO:0000269|PubMed:26503721, ECO:0000269|PubMed:8081723}. Perikaryon {ECO:0000269|PubMed:24477962}. Cell projection, axon {ECO:0000269|PubMed:24477962}. Cell projection, dendrite {ECO:0000269|PubMed:24477962}. Membrane; Multi-pass membrane protein. Postsynaptic cell membrane {ECO:0000250|UniProtKB:P15387}. Synapse {ECO:0000250|UniProtKB:P15387}. Synapse, synaptosome {ECO:0000250|UniProtKB:P15387}. Lateral cell membrane {ECO:0000250|UniProtKB:P15387}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P15387}. Note=Localizes to high-density somatodendritic clusters and non-clustered sites on the surface of neocortical and hippocampal pyramidal neurons in a cortical actin cytoskeleton-dependent manner (PubMed:24477962). Localizes also to high-density clusters in the axon initial segment (AIS), at ankyrin-G-deficient sites, on the surface of neocortical and hippocampal pyramidal neurons (PubMed:24477962). KCNB1-containing AIS clusters localize either in close apposition to smooth endoplasmic reticulum cisternal organelles or with GABA-A receptor-containing synapses of hippocampal and cortical pyramidal neurons, respectively (PubMed:24477962). Localizes to high-density clusters on the cell surface of atrial and ventricular myocytes and at the lateral plasma membrane in epithelial cells. Localizes both to the axial and transverse tubules (T tubule) and sarcolemma in ventricular myocytes. Associated with lipid raft domains. In cortical neurons, apoptotic injuries induce de novo plasma membrane insertion in a SNARE-dependent manner causing an apoptotic potassium current surge. {ECO:0000250|UniProtKB:P15387, ECO:0000250|UniProtKB:Q03717, ECO:0000269|PubMed:12060745, ECO:0000269|PubMed:19074135, ECO:0000269|PubMed:24477962, ECO:0000269|PubMed:24901643}. |
| Mouse PG classification | NA |
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