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FLASH GENE

Symbol

SCN1B

contributors: npt/mct - updated : 27-01-2013

HGNC name	sodium channel, voltage-gated, type I, beta
HGNC id	10586

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Cardiovascular heart         Endocrine adrenal gland         Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal prominent extracellular domain
	a single Ig-like fold motif maintened by a disulfide bond between two Cys
	including C121, a single transmembrane segment (TM)
	a C terminal cytoplasmic tail

HOMOLOGY

Homologene

FAMILY

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	sodium channel, voltage-gated, type I, required for normal inactivation kinetics of the Na+ channel
	Na(+) channel beta1-subunit that modulates channel gating and voltage dependence, regulates channel cell surface expression, and functions as a cell adhesion molecule (Fein 2008)
	may be reduces glucose-stimulated insulin and glucagon secretion (Ernst 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GEFSP1 , BRGS5 , EIEE52

Susceptibility

to atrial fibrillation

Variant & Polymorphism SNP	R85H, D153N associated with atrial fibrillation (Watanabe 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS