KCNC1 - potassium voltage-gated channel subfamily C member 1 Gene

Homo sapiens

Also known as KV4; EPM7; NGK2; KV3.1

Gene ID: 3746 | Gene type: protein coding

About KCNC1

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:17,734,781-17,783,057 (from NCBI)

This gene has 14 transcripts (splice variants), 230 orthologues, 31 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 5.1) and testis (RPKM 0.7).

Summary

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 at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

KCNC1 Products(2)

mRNA	Protein	Name
NM_001112741.2	NP_001106212.1	potassium voltage-gated channel subfamily C member 1 isoform 1
NM_004976.4	NP_004967.1	potassium voltage-gated channel subfamily C member 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	25401298	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein tetramerization	IDA IDA: Inferred from direct assay	23734863	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	23734863	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNC1 Protein Structure

BTB_2

Ion_trans

0
100
200
300
400
511 a.a.

Protein Preferred Names

Protein Names

potassium voltage-gated channel subfamily C member 1

potassium channel, voltage gated Shaw related subfamily C, member 1

KCNC1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KCNC1	P48547	TMBIM6	Homo sapiens	P55061	Validated Y2H	32296183
Intra	KCNC1	P48547	LPAR3	Homo sapiens	Q9UBY5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Epilepsy, Progressive Myoclonic 7

EPM7	Progressive Myoclonic Epilepsy Type 7
Meak	Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation
Pme Type 7	Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency
Progressive Myoclonus Epilepsy Type 7	Epilepsy, Myoclonic, Progressive, Type 7

Progressive Myoclonus Epilepsy 7

Epm7	Meak
Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation	Pme Type 7
Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency	Progressive Myoclonus Epilepsy Type 7

Spinocerebellar Ataxia 13

Spinocerebellar Ataxia Type 13	SCA13
Autosomal Dominant Cerebellar Ataxia With Intellectual Disability	Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability
Spinocerebellar Ataxia-13	Ataxia, Spinocerebellar, Type 13

Spinocerebellar Ataxia Type 19/22

Sca19/22

Spinocerebellar Ataxia 19 And 22

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6	Epm6
Gosr2-Related Progressive Myoclonus Ataxia	North Sea Progressive Myoclonus Epilepsy
Pme Type 6	Progressive Myoclonus Epilepsy Type 6
Epilepsy, Progressive Myoclonic, 6

Episodic Ataxia, Type 1

Episodic Ataxia Type 1	Episodic Ataxia/Myokymia Syndrome
EA1	Episodic Ataxia With Myokymia
Eam	Ataxia, Episodic, With Myokymia
Aem	Paroxysmal Ataxia With Neuromyotonia, Hereditary
Myokymia With Periodic Ataxia	Episodic Ataxia 1
Aemk	Ea-1
Paroxysmal Ataxia With Neuromyotonia	Myokymia Isolated 1
MK1	Ataxia, Episodic, Type 1
Continuous Muscle Fiber Activity, Hereditary	Isaacs Syndrome

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Stuttering

Stammering	Familial Persistent Stuttering
Stuttering, Familial Persistent 1

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07108	KCNC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KCNC1	VGNC	VGNC:67899
Macaca mulatta	KCNC1	VGNC	VGNC:73971
Mus musculus	KCNC1	MGD	MGI:96667
Canis familiaris	KCNC1	VGNC	VGNC:42236
Rattus norvegicus	KCNC1	RGD	RGD:2955
Bos taurus	KCNC1	VGNC	VGNC:30432
Others	KCNC1	NCBI

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