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FLASH GENE

Symbol

SCNN1D

contributors: mct - updated : 06-06-2012

HGNC name	sodium channel, nonvoltage-gated 1, delta
HGNC id	10601

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p36.33      Physical location : 1.217.488 - 1.227.409
Synonym name	epithelial Na(+) channel subunit delta
	sodium channel, voltage-gated, type I, delta polypeptide
Synonym symbol(s)	ASCD, ENaCd, ENaCdelta, SCNED, dNaCh, MGC149710, MGC149711

DNA

TYPE	functioning gene
STRUCTURE	11.60 kb     18 Exon(s)

Genomic sequence alignment details
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_001130413 18 splicing 3063 NP_001123885 - 802 - 2006 16930535 delta1-subunit delta(1) and delta(2) , differing in the N-terminal sequence variant 2 14 splicing 2503 70.1 638 - 2006 16930535 lacking an internal exon in the CDS compared to variant 1 delta2-subunit, - - - - - expressed with the original delta-subunit (delta1-subunit) at the same level in the brain 2006 16930535 delta(1) and delta(2) differing in the N-terminal sequence

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 Digestive esophagus       highly Homo sapiens Endocrine pancreas       highly Nervous brain         Homo sapiens Reproductive female system breast mammary gland   moderately   male system testis     predominantly Urinary kidney tubule collecting duct   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     moderately Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	(at least) two membrane spanning segments
	several glycosylation and a nucleotide binding sites
	a N terminal cluster of negatively charged AA
	a C terminal cluster of positively charged AA
	a conserved proline-rich amino-acid sequence (PPxY motif) inhibiting Na+ reabsorption by interacting with NEDD4

conjugated

GlycoP

mono polymer

heteromer , tetramer

HOMOLOGY

Homologene

FAMILY

degenerin/ENaC superfamily of non-voltage-gated, highly amiloride-sensitive cation channels

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	multi-pass membrane protein

basic FUNCTION	epithelial amiloride-sensitive sodium channel, non-voltage gated, controling the reabsorption of sodium in kidney, colon, lung and sweat glands
	also playing a role in taste perception
	candidate molecule for pH sensing in the gastrointestinal system
	alters proteolytic channel activation and enhances base-line channel activity
	undergoes dynamin-independent endocytosis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	Na+ transport

PATHWAY

metabolism

signaling

sensory transduction/taste

a component

component of a heterotetramer including two SCNN1D, one SCNN1B and one SCNN1G

INTERACTION

DNA

RNA

small molecule

protein	COMMD1 associate with SCNN1D and downregulate its activity
	CNKSR3 physically interacts with SCNN1A, B, D, NEDD4L, and SGK1 and stimulates SCNN1A, SCNN1B, SCNN1D function in a PDZ domain-dependent, aldosterone-induced manner

cell & other

REGULATION

inhibited by

the diuretic amiloride

Other

regulated by COMMD1

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive     therapeutic target for gastro-oesophageal reflux disease

ANIMAL & CELL MODELS