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FLASH GENE

Symbol

ABCA3

contributors: mct - updated : 11-03-2011

HGNC name	ATP-binding cassette, sub-family A (ABC1), member 3
HGNC id	33

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	64.33 kb     33 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   HRE
text structure	proximal ABCA3 promoter region contained multiple sterol responsive element (SRE) binding sites )

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_001089 33 - 6623 150 1704 - 1997 9027511

EXPRESSION

Type

widely

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         Digestive intestine small intestine     highly Endocrine pancreas         Reproductive female system breast mammary gland   highly Homo sapiens Respiratory lung       highly Homo sapiens Urinary kidney         Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Respiratory alveolar cell type 2 Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal lung

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus proteolytically removed inside acidic LAMP3-positive vesicles multivesicular bodies/lamellar bodies, possibly with assistance of cysteine, but not aspartyl proteases
	two ATP binding sites (nucleotide binding fold)
	each harboring six putative transmembrane helices

isoforms

Precursor

mature ABCA3 having N-terminus cleaved by a cysteine protease

HOMOLOGY

interspecies

homolog to murine Abc2

Homologene

FAMILY

ATP binding cassette superfamily, subfamily A

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	highly expressed at the membrane of lamellar bodies in alveolar type II cells, in which pulmonary surfactant is stored
	protein folds in endoplasmic reticulum and is glycosylated in Golgi en route to the membrane of mature LB (Lamellar bodies) and their precursor multivesicular bodies (MVB)

basic FUNCTION	ABC transporter, involved in trans mmembrane transport of endogenous lipids and resistance to xenobiotics
	playing an important role in the phospholipid metabolism, in lipid organization during the formation of lamellar bodies and of pulmonary surfactant in type 2 cells (probably by transporting lipids such as cholesterol)
	having ATPase activity, which is induced by lipids, and may be involved in the biogenesis of lamellar body-like structures
	plays an essential role in pulmonary surfactant lipid metabolism and lamellar body biogenesis, probably by transporting these lipids as substrates
	lipid transporter critical for surfactant function at birth
	confers multidrug resistance in leukemia cells by lysosomal drug sequestration
	lipid transporter indispensible for surfactant biogenesis and storage in lamellar bodies (LB)
	major transporter of phosphatidylcholine and phosphatidylglycerol into alveolar lamellar bodies

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein

cell & other

REGULATION

Other

its expression is mediated by discrete cis-acting cassettes that mediate pulmonary cell- and lipid-sensitive pathways regulating surfactant homeostasis

ASSOCIATED DISORDERS

corresponding disease(s)

SMDP3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       associated with fatal surfactant deficiency (see RDS) tumoral     --low   in breast cancer which seems to be associated with poor prognosis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS