• Gene id: 3746

Gene Summary

• Gene Symbol: KCNC1   Gene   UCSC   Ensembl
• Aliases: EPM7, KV3.1, KV4, NGK2
• Gene name: potassium voltage-gated channel subfamily C member 1
• Alternate names: potassium voltage-gated channel subfamily C member 1, potassium channel, voltage gated Shaw related subfamily C, member 1, voltage-gated potassium channel protein KV3.1, voltage-gated potassium channel subunit Kv4,
• Gene location: 11p15.1 (17734780: 17783056)     Exons: 5     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ a

Protein Summary

• Protein general information: P48547  
  • Name: Potassium voltage gated channel subfamily C member 1 (NGK2) (Voltage gated potassium channel subunit Kv3.1) (Voltage gated potassium channel subunit Kv4)
  • Length: 511  
  • Mass: 57942
• Sequence:

  MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGK
  LHCPADVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELE
  MTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIE
  NVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSS
  KAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPND
  PSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQ
  KLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPLAQEEILEINRAGRKPLRGMSI

• Structural information:
  • Interpro: IPR000210  IPR005821  IPR003968  IPR003974  IPR005403   IPR011333  IPR003131  IPR028325  IPR027359  
  • STRING: ENSP00000265969
• Other Databases: GeneCards:  KCNC1  Malacards:  KCNC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030424	axon	IBA	cellular component
GO:0005251	delayed rectifier potassium channel activity	IBA	molecular function
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0043025	neuronal cell body	IBA	cellular component
GO:0032809	neuronal cell body membrane	IBA	cellular component
GO:0032590	dendrite membrane	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0051262	protein tetramerization	IDA	biological process
GO:0005251	delayed rectifier potassium channel activity	ISS	molecular function
GO:0008076	voltage-gated potassium channel complex	ISS	cellular component
GO:0032809	neuronal cell body membrane	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:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005249	voltage-gated potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0008076	voltage-gated potassium channel complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005251	delayed rectifier potassium channel activity	IEA	molecular function
GO:0009636	response to toxic substance	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0034767	positive regulation of ion transmembrane transport	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0035864	response to potassium ion	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:1901381	positive regulation of potassium ion transmembrane transport	IEA	biological process
GO:1903818	positive regulation of voltage-gated potassium channel activity	IEA	biological process
GO:1990089	response to nerve growth factor	IEA	biological process
GO:0030673	axolemma	IEA	cellular component
GO:0044325	ion channel binding	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0009642	response to light intensity	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0014075	response to amine	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0021759	globus pallidus development	IEA	biological process
GO:0032589	neuron projection membrane	IEA	cellular component
GO:0032809	neuronal cell body membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0044305	calyx of Held	IEA	cellular component
GO:0071774	response to fibroblast growth factor	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0099508	voltage-gated ion channel activity involved in regulation of presynaptic membrane potential	IEA	molecular function
GO:1901379	regulation of potassium ion transmembrane transport	IEA	biological process
GO:0019894	kinesin binding	IEA	molecular function
GO:0032590	dendrite membrane	IEA	cellular component
GO:0032809	neuronal cell body membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0099505	regulation of presynaptic membrane potential	IEA	biological process

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Progressive myoclonic epilepsy	KEGG:H00810
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray