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FLASH GENE

Symbol

ACCN1

contributors: mct/npt - updated : 11-05-2010

HGNC name	amiloride-sensitive cation channel 1, neuronal
HGNC id	99

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17q11.2      Physical location : 31.340.107 - 32.483.825
Synonym name	acid-sensing ion channel 2
	degenerin
	brain sodium channel 1
	mammalian degenerin homolog
Synonym symbol(s)	MDEG1, BNC1, ASIC2, ASIC2A, BNAC1, ACCN

DNA

TYPE	functioning gene
STRUCTURE	1143.72 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box)
	cytosine-phosphate-guanine/HTF
	Binding site   transcription factor
text structure	presence of a number of transcription factor-binding sites and a 404 bp CpG island upstream the transcription start site

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

close to D17S798

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_183377 10 - 3470 NP_899233 - 563 - Chai (2007) NM_001094 10 - 2747 NP_001085 58 512 - Chai (2007)

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 Endocrine neuroendocrine pituitary       Gustatory tongue taste buds       Nervous brain         Reproductive female system breast mammary gland       female system ovary       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory gustatory     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	intracellular N and C terminus
	two putative (N and C terminus region) transmembrane segments (TM2)
	a large extracellular loop with nine cysteine residues scattered into three rich domains

mono polymer

homomer

HOMOLOGY

interspecies

homolog to murine Accn1

Homologene

FAMILY	amiloride-sensitive sodium channels superfamily
	degenerin family

CATEGORY

tumor suppressor , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	colocalizing with ACCN3
	lanceolate nerve endings that lie adjacent to and surround hair follicle

basic FUNCTION	neuronal amiloride-sensitive cation (non voltage-dependent) channel 1, also permeable to Na+, K+, LI+ required for normal touch sensation, involved in cell death
	may play an important role in the pathogenesis of multiple sclerosis (Bernardinelli 2007)
	distributed throughout the nervous system and potentially involved in mechanosensation, hearing, vision, and taste functions (Malysz 2008)
	H(+)-gated amiloride-sensitive cation channel, potential glioma tumor suppressor gene (Vandepoele 2008)

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

synaptic transmission

a component

may be a central component of a mechanosensory complex

INTERACTION

DNA

RNA

small molecule

protein	variant 1 (ASIC2A) interacting with ACCN3 to form a protein-gated channel sensitive to gadolinium
	through C- terminus interact with protein interacting with C kinase (PICK)1, which targets PKC to the plasma membrane (Bashari 2009)

cell & other

REGULATION

activated by

extracellular proteins

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupting the NBPF1 and ACCN1 (Vandepoele 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS