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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3746

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	References	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	References	Source
involved in protein tetramerization	IDA IDA: Inferred from direct assay	23734863	GOA

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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