• Gene id: 3745

Gene Summary

• Gene Symbol: KCNB1   Gene   UCSC   Ensembl
• Aliases: DRK1, Kv2.1
• Gene name: potassium voltage-gated channel subfamily B member 1
• Alternate names: potassium voltage-gated channel subfamily B member 1, delayed rectifier potassium channel 1, potassium voltage-gated channel, Shab-related subfamily, member 1, voltage-gated potassium channel subunit Kv2.1,
• Gene location: 20q13.13 (49484032: 49363876)     Exons: 14     NC_000020.11
• Gene summary(Entrez): 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, neuro
• OMIM: 600397

Protein Summary

• Protein general information: Q14721  
  • Name: Potassium voltage gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (h DRK1) (Voltage gated potassium channel subunit Kv2.1)
  • Length: 858  
  • Mass: 95878
  • Tissue specificity: Expressed in neocortical pyramidal cells (PubMed
• Sequence:

  MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKLRDCNTHDSLLEVCDD
  YSLDDNEYFFDRHPGAFTSILNFYRTGRLHMMEEMCALSFSQELDYWGIDEIYLESCCQARYHQKKEQMNEELKR
  EAETLREREGEEFDNTCCAEKRKKLWDLLEKPNSSVAAKILAIISIMFIVLSTIALSLNTLPELQSLDEFGQSTD
  NPQLAHVEAVCIAWFTMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFR
  IMRILRILKLARHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDDTKFKSIPASFWWATITM
  TTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNFSEFYKEQKRQEKAIKRREALERAKRNGSIVSMNM
  KDAFARSIEMMDIVVEKNGENMGKKDKVQDNHLSPNKWKWTKRTLSETSSSKSFETKEQGSPEKARSSSSPQHLN
  VQQLEDMYNKMAKTQSQPILNTKESAAQSKPKEELEMESIPSPVAPLPTRTEGVIDMRSMSSIDSFISCATDFPE
  ATRFSHSPLTSLPSKTGGSTAPEVGWRGALGASGGRFVEANPSPDASQHSSFFIESPKSSMKTNNPLKLRALKVN
  FMEGDPSPLLPVLGMYHDPLRNRGSAAAAVAGLECATLLDKAVLSPESSIYTTASAKTPPRSPEKHTAIAFNFEA
  GVHQYIDADTDDEGQLLYSVDSSPPKSLPGSTSPKFSTGTRSEKNHFESSPLPTSPKFLRQNCIYSTEALTGKGP
  SGQEKCKLENHISPDVRVLPGGGAHGSTRDQSI

• Structural information:
  • Interpro: IPR000210  IPR005821  IPR003968  IPR003973  IPR004350   IPR011333  IPR003131  IPR028325  IPR027359  
  • STRING: ENSP00000360806
• Other Databases: GeneCards:  KCNB1  Malacards:  KCNB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001508	action potential	IBA	biological process
GO:0005251	delayed rectifier potassium channel activity	IBA	molecular function
GO:0030424	axon	IBA	cellular component
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0032590	dendrite membrane	IBA	cellular component
GO:0032809	neuronal cell body membrane	IBA	cellular component
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0005251	delayed rectifier potassium channel activity	IDA	molecular function
GO:0001508	action potential	IDA	biological process
GO:0005251	delayed rectifier potassium channel activity	IDA	molecular function
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0090314	positive regulation of protein targeting to membrane	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0030424	axon	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0005251	delayed rectifier potassium channel activity	ISS	molecular function
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0010701	positive regulation of norepinephrine secretion	ISS	biological process
GO:0045956	positive regulation of calcium ion-dependent exocytosis	ISS	biological process
GO:2000671	regulation of motor neuron apoptotic process	ISS	biological process
GO:0007215	glutamate receptor signaling pathway	ISS	biological process
GO:0098900	regulation of action potential	ISS	biological process
GO:0071333	cellular response to glucose stimulus	ISS	biological process
GO:0046676	negative regulation of insulin secretion	ISS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0005251	delayed rectifier potassium channel activity	ISS	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0043204	perikaryon	ISS	cellular component
GO:0032809	neuronal cell body membrane	ISS	cellular component
GO:0008076	voltage-gated potassium channel complex	ISS	cellular component
GO:0090314	positive regulation of protein targeting to membrane	ISS	biological process
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:0033605	positive regulation of catecholamine secretion	ISS	biological process
GO:0006904	vesicle docking involved in exocytosis	ISS	biological process
GO:0031669	cellular response to nutrient levels	ISS	biological process
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:1900454	positive regulation of long-term synaptic depression	ISS	biological process
GO:0032809	neuronal cell body membrane	ISS	cellular component
GO:0008076	voltage-gated potassium channel complex	ISS	cellular component
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0098900	regulation of action potential	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005251	delayed rectifier potassium channel activity	IEA	molecular function
GO:1900454	positive regulation of long-term synaptic depression	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0032809	neuronal cell body membrane	IEA	cellular component
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq