• Gene id: 3736

Gene Summary

• Gene Symbol: KCNA1   Gene   UCSC   Ensembl
• Aliases: AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
• Gene name: potassium voltage-gated channel subfamily A member 1
• Alternate names: potassium voltage-gated channel subfamily A member 1, potassium channel, voltage gated shaker related subfamily A, member 1, potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia), voltage-gated K(+) channel HuKI, ,
• Gene location: 12p13.32 (4909904: 4918255)     Exons: 2     NC_000012.12
• Gene summary(Entrez): This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains
• OMIM: 176263

SNPs

rs1399645

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

Protein Summary

• Protein general information: Q09470  
  • Name: Potassium voltage gated channel subfamily A member 1 (Voltage gated K(+) channel HuKI) (Voltage gated potassium channel HBK1) (Voltage gated potassium channel subunit Kv1.1)
  • Length: 495  
  • Mass: 56466
  • Tissue specificity: Detected adjacent to nodes of Ranvier in juxtaparanodal zones in spinal cord nerve fibers, but also in paranodal regions in some myelinated spinal cord axons (at protein level) (PubMed
• Sequence:

  MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRMRYFDP
  LRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQ
  RQVWLLFEYPESSGPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVE
  TLCIIWFSFELVVRFFACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVF
  RIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIPDAFWWAVVSMTTVGY
  GDMYPVTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETEGEEQAQLLHVSSPNLASDSDLSRRSSSTMS
  KSEYMEIEEDMNNSIAHYRQVNIRTANCTTANQNCVNKSKLLTDV

• Structural information:
  • Interpro: IPR000210  IPR005821  IPR003968  IPR003972  IPR004048   IPR011333  IPR003131  IPR028325  IPR027359  
  • PDB: 2AFL
  • PDBsum: 2AFL
  • STRING: ENSP00000371985
• Other Databases: GeneCards:  KCNA1  Malacards:  KCNA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030425	dendrite	IBA	cellular component
GO:0005251	delayed rectifier potassium channel activity	IBA	molecular function
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0044224	juxtaparanode region of axon	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0033270	paranode region of axon	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:0005251	delayed rectifier potassium channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0044224	juxtaparanode region of axon	IDA	cellular component
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0033270	paranode region of axon	IDA	cellular component
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0023041	neuronal signal transduction	ISS	biological process
GO:0019228	neuronal action potential	ISS	biological process
GO:0006937	regulation of muscle contraction	ISS	biological process
GO:0050905	neuromuscular process	IMP	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0030054	cell junction	ISS	cellular component
GO:0071286	cellular response to magnesium ion	ISS	biological process
GO:0050976	detection of mechanical stimulus involved in sensory perception of touch	ISS	biological process
GO:0050966	detection of mechanical stimulus involved in sensory perception of pain	ISS	biological process
GO:0050905	neuromuscular process	ISS	biological process
GO:0019228	neuronal action potential	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0010644	cell communication by electrical coupling	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0010960	magnesium ion homeostasis	IMP	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0071805	potassium ion transmembrane transport	IMP	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:0051260	protein homooligomerization	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015079	potassium ion transmembrane transporter activity	TAS	molecular function
GO:0005251	delayed rectifier potassium channel activity	TAS	molecular function
GO:0005267	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:0007268	chemical synaptic transmission	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001964	startle response	IEA	biological process
GO:0005251	delayed rectifier potassium channel activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006937	regulation of muscle contraction	IEA	biological process
GO:0019228	neuronal action potential	IEA	biological process
GO:0023041	neuronal signal transduction	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0034705	potassium channel complex	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:1903818	positive regulation of voltage-gated potassium channel activity	IEA	biological process
GO:0001964	startle response	IEA	biological process
GO:0005251	delayed rectifier potassium channel activity	IEA	molecular function
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0019228	neuronal action potential	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0050905	neuromuscular process	IEA	biological process
GO:0050966	detection of mechanical stimulus involved in sensory perception of pain	IEA	biological process
GO:0050976	detection of mechanical stimulus involved in sensory perception of touch	IEA	biological process
GO:0071286	cellular response to magnesium ion	IEA	biological process
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0010644	cell communication by electrical coupling	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0033270	paranode region of axon	IEA	cellular component
GO:0034613	cellular protein localization	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0044224	juxtaparanode region of axon	IEA	cellular component
GO:0044305	calyx of Held	IEA	cellular component
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:1905030	voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0033270	paranode region of axon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0044224	juxtaparanode region of axon	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0044224	juxtaparanode region of axon	ISS	cellular component
GO:0030424	axon	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0099505	regulation of presynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0097718	disordered domain specific binding	IPI	molecular function
GO:0005249	voltage-gated potassium channel activity	IMP	molecular function
GO:0008076	voltage-gated potassium channel complex	IMP	cellular component

Diseases

Associated diseases	References
Episodic ataxias	KEGG:H00749
Episodic ataxias	KEGG:H00749
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R