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FLASH GENE

Symbol

KCNA5

contributors: mct - updated : 22-10-2013

HGNC name	potassium voltage-gated channel, shaker-related subfamily, member 5
HGNC id	6224

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATFB7 atrial fibrillation, familial, 7
Location	12p13.32      Physical location : 5.153.084 - 5.155.948
Synonym name	cardiac potassium channel
	insulinoma and islet potassium channel
	voltage-gated potassium channel subunit Kv1.5
Synonym symbol(s)	KV1.5, HK2, HCK1, PCN1, HPCN1, MGC117058, MGC117059, ATFB7

DNA

TYPE	functioning gene
STRUCTURE	2.87 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see KCNA1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002234 1 - 2865 NP_002225 67.1 613 - 1995 8821794

EXPRESSION

Type

widely

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 Cardiovascular heart atrium     highly Homo sapiens   vessel       highly Homo sapiens Digestive intestine       highly Homo sapiens   liver       highly Homo sapiens Fetal Endocrine pancreas         Homo sapiens Nervous brain         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth muscularis mucosa (tractus digestif)     Homo sapiens Nervous central     highly Homo sapiens Fetal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic progenitor cell Homo sapiens Fetal Cardiovascular endothelial cell Homo sapiens Endocrine islet cell (alpha,beta...) Homo sapiens Lymphoid/Immune dendritic cell Homo sapiens Lymphoid/Immune macrophage Homo sapiens Muscular myocyte Homo sapiens Reproductive spermatozoa Homo sapiens

cell lineage
cell lines	insulinoma cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	transmembrane (TM) protein with 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

mono polymer

tetramer , complex

HOMOLOGY

interspecies	homolog to murine Kv1.5
	homolog to Drosophila shaker-related subfamily

Homologene

FAMILY	potassium channel family
	A (Shaker) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	localised on the cytoplasmic droplets and tail of ejaculated spermatozoa

basic FUNCTION	mediating the voltage-dependent potassium ion permeability of excitable membranes
	play a role in regulating the secretion of insulin in normal pancreatic islets
	K(+)-channel involved in sperm volume regulation under physiological conditions
	traffic and localization of KCNA3/KCNA5 heteromers implicated in the complex regulation of immune system cells
	may play an important role in oxidative vascular endothelial injury
	participates in the repolarization of a wide variety of cell types

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
	interaction with ACTN2
	interacting with CDH2 (modifies KCNA5 activity and is thus a novel candidate signaling molecule participating in the regulation of a variety of functions including cardiac action potential and vascular tone
	in cardiac myocytes colocalizes with CDH2 (its expression increases following establishment of cell-cell contacts and CDH2 influences the activity of other ion channels)
	mechanistic link among the cell adhesion molecule, CDH2, the actin-binding scaffold protein, CTTN, and KCNA5 remodeling in the heart
	FHL1C is a binding partner for KCNA5
	coexpression of CTNNB1 enhanced KCNA activity by fostering its membrane expression
	associates with CDH2, caveolin and PSD95/SAP97, as well as with lipid rafts
	CTNNB1 stimulates KCNA5 and thus participates in the shaping of the cardiac action potential and further KCNA5 sensitive cellular functions

cell & other

REGULATION

activated by

DLG1 (requiring A specific N-terminal residue)

inhibited by

AMPK, that inhibits KCNA5 presumably in part by activation of NEDD4L with subsequent clearance of channel protein from the cell membrane

Other

modulation of its functional expression through Rab GTPases targeting in the cells

ASSOCIATED DISORDERS

corresponding disease(s)

ATFB7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in atrial fibrillation constitutional germinal mutation       in cardiac arrest patients

Susceptibility

to atrial fibrillation

Variant & Polymorphism other	increasing the atrial fibrillation

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS