Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3736
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel subfamily A member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNA1
Synonyms (NCBI Gene) Gene synonyms aliases	AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.32
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229000	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs28933381	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs28933382	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs28933383	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs104894348	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894349	G>T	Pathogenic	Coding sequence variant, missense variant
rs104894352	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894353	G>C	Pathogenic	Coding sequence variant, missense variant
rs104894354	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894355	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894356	T>A	Pathogenic	Coding sequence variant, missense variant
rs104894357	T>G	Pathogenic	Coding sequence variant, missense variant
rs104894358	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121918067	A>G	Pathogenic	Coding sequence variant, missense variant
rs267607195	T>A	Pathogenic	Missense variant, coding sequence variant
rs797044929	C>T	Pathogenic	Missense variant, coding sequence variant
rs1085308020	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1135401950	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555085761	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555085798	C>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(147)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734394	hsa-miR-125b-5p	Luciferase reporter assay, Western blotting	32435510
MIRT1080130	hsa-miR-1206	CLIP-seq
MIRT1080131	hsa-miR-1279	CLIP-seq
MIRT1080132	hsa-miR-128	CLIP-seq
MIRT1080133	hsa-miR-1303	CLIP-seq
MIRT1080134	hsa-miR-134	CLIP-seq
MIRT1080135	hsa-miR-181a	CLIP-seq
MIRT1080136	hsa-miR-181b	CLIP-seq
MIRT1080137	hsa-miR-181c	CLIP-seq
MIRT1080138	hsa-miR-181d	CLIP-seq
MIRT1080139	hsa-miR-18a	CLIP-seq
MIRT1080140	hsa-miR-18b	CLIP-seq
MIRT1080141	hsa-miR-193a-3p	CLIP-seq
MIRT1080142	hsa-miR-193b	CLIP-seq
MIRT1080143	hsa-miR-198	CLIP-seq
MIRT1080144	hsa-miR-200b	CLIP-seq
MIRT1080145	hsa-miR-200c	CLIP-seq
MIRT1080146	hsa-miR-2053	CLIP-seq
MIRT1080147	hsa-miR-2110	CLIP-seq
MIRT1080148	hsa-miR-2276	CLIP-seq
MIRT1080149	hsa-miR-27a	CLIP-seq
MIRT1080150	hsa-miR-27b	CLIP-seq
MIRT1080151	hsa-miR-302a	CLIP-seq
MIRT1080152	hsa-miR-302b	CLIP-seq
MIRT1080153	hsa-miR-302c	CLIP-seq
MIRT1080154	hsa-miR-302d	CLIP-seq
MIRT1080155	hsa-miR-302e	CLIP-seq
MIRT1080156	hsa-miR-3065-3p	CLIP-seq
MIRT1080157	hsa-miR-3118	CLIP-seq
MIRT1080158	hsa-miR-3123	CLIP-seq
MIRT1080159	hsa-miR-3125	CLIP-seq
MIRT1080160	hsa-miR-3127-5p	CLIP-seq
MIRT1080161	hsa-miR-3143	CLIP-seq
MIRT1080162	hsa-miR-3150a-3p	CLIP-seq
MIRT1080163	hsa-miR-3173-3p	CLIP-seq
MIRT1080164	hsa-miR-3611	CLIP-seq
MIRT1080165	hsa-miR-3616-5p	CLIP-seq
MIRT1080166	hsa-miR-3647-5p	CLIP-seq
MIRT1080167	hsa-miR-3652	CLIP-seq
MIRT1080168	hsa-miR-3663-5p	CLIP-seq
MIRT1080169	hsa-miR-372	CLIP-seq
MIRT1080170	hsa-miR-373	CLIP-seq
MIRT1080171	hsa-miR-374c	CLIP-seq
MIRT1080172	hsa-miR-3916	CLIP-seq
MIRT1080173	hsa-miR-3925-5p	CLIP-seq
MIRT1080174	hsa-miR-3975	CLIP-seq
MIRT1080175	hsa-miR-4260	CLIP-seq
MIRT1080176	hsa-miR-4262	CLIP-seq
MIRT1080177	hsa-miR-4263	CLIP-seq
MIRT1080178	hsa-miR-4270	CLIP-seq
MIRT1080179	hsa-miR-4271	CLIP-seq
MIRT1080180	hsa-miR-4275	CLIP-seq
MIRT1080181	hsa-miR-4289	CLIP-seq
MIRT1080182	hsa-miR-429	CLIP-seq
MIRT1080183	hsa-miR-4325	CLIP-seq
MIRT1080184	hsa-miR-4328	CLIP-seq
MIRT1080185	hsa-miR-4428	CLIP-seq
MIRT1080186	hsa-miR-4430	CLIP-seq
MIRT1080187	hsa-miR-4441	CLIP-seq
MIRT1080188	hsa-miR-4464	CLIP-seq
MIRT1080189	hsa-miR-4505	CLIP-seq
MIRT1080190	hsa-miR-4695-5p	CLIP-seq
MIRT1080191	hsa-miR-4699-5p	CLIP-seq
MIRT1080192	hsa-miR-4708-3p	CLIP-seq
MIRT1080193	hsa-miR-4725-3p	CLIP-seq
MIRT1080194	hsa-miR-4735-3p	CLIP-seq
MIRT1080195	hsa-miR-4748	CLIP-seq
MIRT1080196	hsa-miR-4755-3p	CLIP-seq
MIRT1080197	hsa-miR-4760-3p	CLIP-seq
MIRT1080198	hsa-miR-4772-3p	CLIP-seq
MIRT1080199	hsa-miR-4795-5p	CLIP-seq
MIRT1080200	hsa-miR-513a-5p	CLIP-seq
MIRT1080201	hsa-miR-513c	CLIP-seq
MIRT1080202	hsa-miR-514b-5p	CLIP-seq
MIRT1080203	hsa-miR-519a	CLIP-seq
MIRT1080204	hsa-miR-519b-3p	CLIP-seq
MIRT1080205	hsa-miR-519c-3p	CLIP-seq
MIRT1080206	hsa-miR-520a-3p	CLIP-seq
MIRT1080207	hsa-miR-520b	CLIP-seq
MIRT1080208	hsa-miR-520c-3p	CLIP-seq
MIRT1080209	hsa-miR-520d-3p	CLIP-seq
MIRT1080210	hsa-miR-520e	CLIP-seq
MIRT1080211	hsa-miR-543	CLIP-seq
MIRT1080212	hsa-miR-544	CLIP-seq
MIRT1080213	hsa-miR-548c-3p	CLIP-seq
MIRT1080214	hsa-miR-573	CLIP-seq
MIRT1080215	hsa-miR-576-5p	CLIP-seq
MIRT1080216	hsa-miR-647	CLIP-seq
MIRT1080217	hsa-miR-649	CLIP-seq
MIRT1080218	hsa-miR-655	CLIP-seq
MIRT1080219	hsa-miR-664	CLIP-seq
MIRT1080178	hsa-miR-4270	CLIP-seq
MIRT1080180	hsa-miR-4275	CLIP-seq
MIRT2019931	hsa-miR-4282	CLIP-seq
MIRT1080187	hsa-miR-4441	CLIP-seq
MIRT2019932	hsa-miR-4531	CLIP-seq
MIRT2019933	hsa-miR-4685-5p	CLIP-seq
MIRT1080192	hsa-miR-4708-3p	CLIP-seq
MIRT1080197	hsa-miR-4760-3p	CLIP-seq
MIRT2019934	hsa-miR-511	CLIP-seq
MIRT2019935	hsa-miR-544b	CLIP-seq
MIRT2019936	hsa-miR-590-3p	CLIP-seq
MIRT2251793	hsa-miR-1208	CLIP-seq
MIRT2251794	hsa-miR-1256	CLIP-seq
MIRT2251795	hsa-miR-125a-5p	CLIP-seq
MIRT2251796	hsa-miR-125b	CLIP-seq
MIRT2251797	hsa-miR-1267	CLIP-seq
MIRT2251798	hsa-miR-137	CLIP-seq
MIRT2251799	hsa-miR-197	CLIP-seq
MIRT2251800	hsa-miR-3192	CLIP-seq
MIRT2251801	hsa-miR-3681	CLIP-seq
MIRT2251802	hsa-miR-3689a-3p	CLIP-seq
MIRT2251803	hsa-miR-3689c	CLIP-seq
MIRT2251804	hsa-miR-4318	CLIP-seq
MIRT2251805	hsa-miR-4319	CLIP-seq
MIRT2251806	hsa-miR-4420	CLIP-seq
MIRT2251807	hsa-miR-4424	CLIP-seq
MIRT1080185	hsa-miR-4428	CLIP-seq
MIRT2251808	hsa-miR-4481	CLIP-seq
MIRT2251809	hsa-miR-4642	CLIP-seq
MIRT2251810	hsa-miR-4728-5p	CLIP-seq
MIRT2251811	hsa-miR-4745-5p	CLIP-seq
MIRT2251812	hsa-miR-4758-5p	CLIP-seq
MIRT2251813	hsa-miR-4797-5p	CLIP-seq
MIRT2251814	hsa-miR-548an	CLIP-seq
MIRT2251815	hsa-miR-661	CLIP-seq
MIRT2251816	hsa-miR-765	CLIP-seq
MIRT2251817	hsa-miR-873	CLIP-seq
MIRT2389600	hsa-miR-193a-5p	CLIP-seq
MIRT2389601	hsa-miR-23a	CLIP-seq
MIRT2389602	hsa-miR-23b	CLIP-seq
MIRT2389603	hsa-miR-23c	CLIP-seq
MIRT2389604	hsa-miR-4264	CLIP-seq
MIRT2389605	hsa-miR-4277	CLIP-seq
MIRT2389606	hsa-miR-4426	CLIP-seq
MIRT2389607	hsa-miR-4647	CLIP-seq
MIRT2389608	hsa-miR-4662b	CLIP-seq
MIRT2389609	hsa-miR-4717-3p	CLIP-seq
MIRT2389610	hsa-miR-4797-3p	CLIP-seq
MIRT2452156	hsa-miR-1253	CLIP-seq
MIRT1080139	hsa-miR-18a	CLIP-seq
MIRT1080140	hsa-miR-18b	CLIP-seq
MIRT2452157	hsa-miR-4709-3p	CLIP-seq
MIRT1080194	hsa-miR-4735-3p	CLIP-seq
MIRT2555082	hsa-miR-1911	CLIP-seq
MIRT2555083	hsa-miR-541	CLIP-seq
MIRT2555084	hsa-miR-654-5p	CLIP-seq

Show/Hide all(87)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0001964	Process	Startle response	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	19912772
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	10585425
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	19912772
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IMP	8845167
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11937501, 19968958, 23903368, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA	17136396
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	19912772
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006937	Process	Regulation of muscle contraction	ISS
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007420	Process	Brain development	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11086297
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IMP	10585425
GO:0009986	Component	Cell surface	IEA
GO:0010644	Process	Cell communication by electrical coupling	ISS
GO:0010960	Process	Magnesium ion homeostasis	IMP	19307729
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019228	Process	Neuronal action potential	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0023041	Process	Neuronal signal transduction	ISS
GO:0030054	Component	Cell junction	IEA
GO:0030054	Component	Cell junction	ISS
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033270	Component	Paranode region of axon	IBA
GO:0033270	Component	Paranode region of axon	IDA	11086297
GO:0033270	Component	Paranode region of axon	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	19307729
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043194	Component	Axon initial segment	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043679	Component	Axon terminus	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0044224	Component	Juxtaparanode region of axon	IBA
GO:0044224	Component	Juxtaparanode region of axon	IDA	11086297
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0050905	Process	Neuromuscular process	IEA
GO:0050905	Process	Neuromuscular process	IMP	17136396
GO:0050905	Process	Neuromuscular process	ISS
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	ISS
GO:0050976	Process	Detection of mechanical stimulus involved in sensory perception of touch	IEA
GO:0050976	Process	Detection of mechanical stimulus involved in sensory perception of touch	ISS
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071286	Process	Cellular response to magnesium ion	IEA
GO:0071286	Process	Cellular response to magnesium ion	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	19912772
GO:0086011	Process	Membrane repolarization during action potential	IEA
GO:0086011	Process	Membrane repolarization during action potential	IMP	8845167
GO:0097718	Function	Disordered domain specific binding	IPI	10585425
GO:0098793	Component	Presynapse	IEA

MIM	HGNC	e!Ensembl
176260	6218	ENSG00000111262

Protein

UniProt ID

Q09470

Protein 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)

Protein function

Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818, PubMed:8845167). Contributes to the regulatio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	39 → 130	BTB/POZ domain	Domain
PF00520	Ion_trans	166 → 419	Ion transport protein	Family

Tissue specificity

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:11086297). Detected in the islet of Langerhans (Pu

Sequence

MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPN
TLLGNPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFY
ELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYPESSGPARVIAIVSVMVILIS
IVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVF
RIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIP
DAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETE
GEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV

Sequence length

495

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Episodic ataxia	episodic ataxia type 1	rs104894352, rs104894358, rs104894348, rs28933383, rs104894349, rs104894356, rs104894357, rs113994120, rs104894353, rs1085308020, rs104894354, rs1555085761, rs104894355, rs1555085798, rs267607195	N/A
Hypomagnesemia	Myokymia 1 with hypomagnesemia	rs121918067	N/A
Myokymia	myokymia 1	rs28933381, rs28933382, rs28933383	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Dementia	Dementia	N/A	N/A	GWAS
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy	N/A	N/A	GenCC
Episodic Kinesigenic Dyskinesia	episodic kinesigenic dyskinesia 1	N/A	N/A	GenCC
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	22018336
Arthritis Rheumatoid	Associate	28767591
Ataxia	Associate	23909822, 26395884, 28676720, 35897654, 37280215
Brain Diseases	Associate	36793218
Brain Neoplasms	Associate	22018336
Carcinogenesis	Associate	22018336
Carcinoma Squamous Cell	Associate	17013799
Cataplexy	Associate	26395884
Cerebellar Ataxia	Associate	7762567
Cerebellar Diseases	Associate	23349320, 24578548
Channelopathies	Associate	28676720, 37280215
Cholecystitis	Associate	22018336
Colorectal Neoplasms	Associate	33078631
Deafness	Associate	23349320
Death	Associate	24372310
Developmental Disabilities	Associate	32705822, 35897654
Drug Resistant Epilepsy	Associate	28388656
Dyskinesia Drug Induced	Associate	31586945
Epilepsies Partial	Associate	34778950
Epilepsy	Associate	20660867, 24372310, 32607479, 34778950, 35897654, 36793218
Epileptic Encephalopathy Early Infantile 3	Associate	34778950, 35897654
Episodic Ataxia	Associate	19903818, 21106501, 24578548
Episodic Ataxia Type 1	Associate	19348045, 20660867, 21106501, 23349320, 23909822, 24578548, 26395884, 28676720, 29791908, 31586945, 32705822, 35897654, 36793218, 37280215, 7762567, 9183251 View all (1 more)
Episodic Ataxia Type 2	Associate	7561920
Fatigue	Associate	32705822
Gallbladder Diseases	Associate	22018336
Hearing Loss	Associate	23349320
Heredodegenerative Disorders Nervous System	Associate	19348045, 34778950
Hypocalcemia	Associate	32607479
Hypomagnesemia primary	Associate	19307729, 19348045, 19903818, 29791908, 32607479
Infant Newborn Diseases	Associate	31586945
Isaacs Syndrome	Associate	21106501, 23349320
Lymphatic Metastasis	Associate	22018336
Lymphedema	Associate	28252570
Medulloblastoma	Associate	20823417
Muscle Rigidity	Associate	26395884
Muscle Weakness	Associate	32607479
Myokymia	Associate	19903818, 29791908, 32607479, 32705822, 7561920
Neoplasms	Associate	17013799, 33078631
Neurologic Manifestations	Associate	29791908
Neuromuscular Manifestations	Associate	32607479
Ovarian Neoplasms	Associate	39961214
Pulmonary Arterial Hypertension	Associate	34349187
Seizures	Associate	20660867, 32705822
Spasm	Associate	32607479
Spinocerebellar Ataxias	Associate	32607479
Spinocerebellar Degenerations	Associate	37280215
Status Asthmaticus	Associate	32607479
Sudden Unexpected Death in Epilepsy	Associate	24372310
Tetany	Associate	29791908
Urinary Bladder Neoplasms	Associate	17013799

KCNA1 (potassium voltage-gated channel subfamily A member 1)