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FLASH GENE

Symbol

KCNH1

contributors: mct - updated : 05-03-2015

HGNC name	potassium voltage-gated channel, subfamily H (eag-related), member 1
HGNC id	6250

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002238 11 - 8025 NP_002229 - 962 - 2017 28259991 NM_172362 11 - 8006 NP_758872 - 989 - 2017 28259991

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 Nervous brain limbic system     highly Rattus norvegicus   brain midbrain substantia nigra   highly Rattus norvegicus Reproductive male system testis

cell lineage	myoblasts at the onset of fusion
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	cytosolic N terminus domain, highly conserved, controlling desactivation by association with K+ channel,
	six membrane spanning domains with an hydrophobic pore flanked by TM domains 5 and 6
	arginine-rich fourth TM domain controling voltage dependent gating,
	one cyclic nucleotide-binding domain
	one PAS (per-arnt-sim) dimerization domain.
	one PAS-associated c-terminal (PAC) domain
	C-terminal region containing a cyclic-nucleotide-binding homology domain (CNBHD), and C-linker that couples the CNBHD to the pore
	and a large intracellular carboxy-terminal region that shares structural similarity with cyclic nucleotide-binding homology domains (CNBHD

HOMOLOGY

Homologene

FAMILY	Drosophila ether-a-go-go (eag)-related subfamily H
	Kv10 family of voltage-gated potassium channels

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,nucleus
	intracellular,nuclear envelope,int
text	RABEP1, KCNH1 co-localize on large early endosomes induced by RAB5 hyperactivity
	expressed at the inner nuclear membrane

basic FUNCTION	pore-forming (alpha) subunit of voltage-gated non- inactivating delayed rectifier potassium channel
	implicated in neuronal signaling as well as in cancer cell proliferation
	might participate potentially in the homeostasis of nuclear K(+), or indirectly interact with heterochromatin, both factors known to affect gene expression
	its channel activity is regulated by EGFR kinase at the tyrosine residues Tyr90, Try344, and Try485, effect likely involved in regulating neuronal activity and/or tumor growth
	participates in cancer initiation and tumor progression

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	S100B is a potential alternative calcium sensor for KCNH1 potassium channel
	physical and functional interaction between CTTN and KCNH1 (controls the abundance of KCNH1 at the plasma membrane and is required for functional expression of KCNH1 channels)
	should be considered as a possible target for the physiological effects of flavonoids

cell & other

REGULATION

Other

under strong negative control by the intracellular Ca2+ concentration ([Ca2+]i)

ASSOCIATED DISORDERS

corresponding disease(s)

ZLS1 , TMBTS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colonic cancer cells

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	may represent a promising candidate as tumor marker
Therapy target
	System Type Disorder Pubmed cancer head and neck   membrane therapeutic target forhead and neck cancer treatment

ANIMAL & CELL MODELS

Kv10.1 null mice display mild hyperactivity and longer-lasting haloperidol-induced catalepsy