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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

Corresponding disease	BRGS5 Brugada syndrome 5 EIEE52 epileptic encephalopathy, early infantile, 52 GEFSP1 generalized epilepsy with febrile seizures plus, 1
Location	19q13.12      Physical location : 35.521.591 - 35.531.352
Synonym name	sodium channel, voltage-gated, type I, beta polypeptide
Synonym symbol(s)	SCNB1, GEFS1

DNA

TYPE	functioning gene
STRUCTURE	9.82 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001037 6 splicing 1463 NP_001028 24.7 218 skeletal muscle, adrenal gland, and expressed in brain and heart 2011 21994374 variant 1, beta isoform a NM_199037 3 - 1112 NP_950238 30.1 268 predominantly in brain, spinal cord, dorsal root ganglion and skeletal muscle, expressed in brain and heart 2011 21994374 variant 2, beta isoform b, beta 1B identical N-terminal half (AAs 1-149) with the beta1 subunit, but a novel C-terminal half (AAs 150-268) not a transmembrane protein, but a soluble protein expressed predominantly during embryonic development that promotes neurite outgrowth G257R may contribute to epilepsy through a mechanism that includes intracellular retention resulting in aberrant neuronal pathfinding

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