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FLASH GENE

Symbol

SEPN1

contributors: mct/npt - updated : 18-02-2012

HGNC name	selenoprotein N, 1
HGNC id	15999

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CFTD2 congenital fibre type disproportion 2 RSMD1 rigid spine muscular dystrophy 1
Location	1p36.13      Physical location : 26.126.666 - 26.144.713
Synonym name	muscular dystrophy with rigid spine 1
	rigid spine muscular dystrophy 1
Synonym symbol(s)	SelN, MDRS1, RSS, RSMD1, FLJ24021

DNA

TYPE	functioning gene
STRUCTURE	18.05 kb     13 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

text structure

exon 3 corresponding to an Alu cassette and containing a second in-frame selenocystein codon

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_206926 12 - 4255 62.1 556 - Maghadaszadeh, Okamoto (2006) exon 3 spliced endoplasmic reticulum membrane N-glycosylated NM_020451 13 splicing 4357 - 590 - Maghadaszadeh, Okamoto (2006) full-length transcript skeletal muscle, brain, lung and placenta

EXPRESSION

Type	ubiquitous

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 blood / hematopoietic spleen       highly Endocrine pancreas       highly Nervous brain         Reproductive female system ovary     highly   male system prostate     highly Respiratory lung

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing retention targeting signal
	two potential ER targeting signals
	a di-arginine motif
	an EF-hand domain

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Sepn1

Homologene

FAMILY

selenocysteine-containing protein family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	playing a role in early development and in cell proliferation or regeneration
	the ryanodine receptor (RyR) intracellular calcium release channel, are both required for normal muscle development and differentiation and for some calcium mobilization events in the embryo
	plays a key role in redox homeostasis and human cell protection against oxidative stress

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

associated with RyRs and functions as a modifier of the RyR channel (modulator of RyR activity)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RSMD1 , CFTD2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS