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FLASH GENE

Symbol

KCNA1

contributors: mct/npt - updated : 06-07-2016

HGNC name	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
HGNC id	6218

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	8.35 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - KCNA6 - KCNA1 - KCNA5 - cen
Authors	Albrecht (96)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000217 2 - 7983 NP_000208 56 495 - Curran (1992)

EXPRESSION

Type

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 Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial         Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

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
	TM domains 5 and 6, sensitive to changes in membrane potential

mono polymer

tetramer , complex

HOMOLOGY

interspecies	homolog to murine Kv1.1
	homolog to Drosophila shaker-related subfamily

Homologene

FAMILY	potassium channel family
	a (shaker) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	intracytoplasmic N and C termini

basic FUNCTION	mediating the voltage-dependent potassium ion permeability of excitable membranes
	assuming opened or closed conformations in response to the voltage difference across the membrane
	KCNA1, KCNA2 plays an essential role in the initiation and shaping of action potentials, influencing action potential firing patterns and controlling neuronal excitability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

tetramer forming a complex through its cytoplasmic segment T1 facing the membrane pore with four beta subunits forming the associated cytoplasmic auxiliary subunits

INTERACTION

DNA

RNA

small molecule

protein	associating with the N terminus region of alpha subunit
	myelin regulates both trafficking and activity of KCNA1, KCNA2 channels along hippocampal axons through CNTN2
	ANK3 was identified as a binding partner of KCNA1 and was enriched in isolated distal convoluted tubules as compared to whole kidney

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EA1 , HMG

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	KCNA1 and UNC5D promoter hypermethylation holds diagnostic biomarker potential in patients with early colorectal cancer
Therapy target

ANIMAL & CELL MODELS

Kcna1, Kcna2 knockout mice both have seizures beginning early in development