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FLASH GENE

Symbol

KCNC1

contributors: mct - updated : 16-09-2020

HGNC name	potassium voltage-gated channel, Shaw-related subfamily, member 1
HGNC id	6233

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EPM7 epilepsy, progressive myoclonic 7
Location	11p15.1      Physical location : 17.757.494 - 17.804.602
Synonym name	shaw-related voltage-gated potassium channel protein 1
Synonym symbol(s)	NGK2, KV3.1, KV4, MGC129855, FLJ41162, FLJ42249, FLJ43491, EPM7

DNA

TYPE	functioning gene
STRUCTURE	47.10 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001112741 4 - 3134 - 585 - 2007 18094255 KCNC1a, Kv3.1a NM_004976 2 - 6807 - 511 - 2007 18094255 KCNC1b, Kv3.1b unique splice domain at Kv3.1b C terminus influences ATM binding to T1 and ankyrin G

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Nervous brain         Homo sapiens   brain diencephalon thalamus nuclei highly Homo sapiens Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six putative membrane-spanning domains
	an hydrophobic pore including the P domain with the K+ channel signature, flanked by TM domains 5 and 6, sensitive to changes in membrane potential
	the tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments

HOMOLOGY

interspecies	homolog to murine Kv3.1
	homolog to Drosophila Shaw-related family

Homologene

FAMILY

potassium channel family, c (shaw) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	mediating the voltage-dependent potassium ion permeability of excitable membranes
	in association with OSP/claudin-11, plays a significant role in Oligodendrocyte progenitor cell proliferation and migration and myelination of axons
	KCNIP3 and KCNC1 channels are expressed and may play a significant role in Müller cell function in the retina
	stimulate adult neural precursor cell proliferation and neuronal differentiation
	encodes the Kv3.1 potassium ion channel responsible for the rapid repolarization of the membrane potential following action potential firing in fast spiking GABAergic interneurons (FSI), thereby enabling high firing frequency

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heteromultimer with KCNG3, KCNG4 and KCNV2

INTERACTION

DNA

RNA

small molecule

protein

interaction between KCNC1 and KIF5A, KIF5B (binding to KIF5 ensures properly assembled and functioning KCNC1 channels to be transported into axons)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EPM7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Kv3.1/Kv3.3-deficient mice display severe sleep loss as a result of unstable slow-wave sleep