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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
Corresponding disease
SMDP3 surfactant metabolism dysfunction, pulmonary 3
Location 16p13.3      Physical location : 2.325.878 - 2.390.747
Synonym name
  • lamellar body limiting membrane 180 kda
  • ATP-binding cassette 3
  • ABC-C transporter
  • Synonym symbol(s) ABCC, ABC3, ABC-C, LBM180, EST111653
    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
    Physical map
    LOC342460 16p13.3 similar to c439A6.1 (novel protein similar to heparan sulfate (glucosamine) 3-O-sulfotransferases) SEPX1 16p13.3 selenoprotein X, 1 RPL3L 16p13.3 ribosomal protein L3-like NDUFB10 16p13.3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa RPS2 16p13.3 ribosomal protein S2 RNF151 16p13.3 ring finger protein 151 TBL3 16p13.3 transducin (beta)-like 3 NOXO1 16p13.3 NADPH oxidase organizer 1 GFER 16p13.3-p13.12 growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae) SYNGR3 16p13 synaptogyrin 3 LOC90850 16p13.3 hypothetical protein LOC90850 SLC9A3R2 16p13.3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2 NTHL1 16p13.3p13.2 nth endonuclease III-like 1 (E. coli) TSC2 16p13.3 tuberous sclerosis 2 PKD1 16p13.3 polycystic kidney disease 1 (autosomal dominant) RFWD1 16p13.3 ring finger and WD repeat domain 1 RAB26 16p13.3 RAB26, member RAS oncogene family CASKIN1 16p13.11 CASK interacting protein 1 GBL 16p13.3 G protein beta subunit-like MGC21830 16p13.3 hypothetical protein MGC21830 LOC388203 16 LOC388203 LOC283871 16p13.3 hypothetical protein LOC283871 E4F1 16p13.3 E4F transcription factor 1 DNASE1L2 16p13.3 deoxyribonuclease I-like 2 DCI 16p13.3 dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) RNPS1 16p13.3 RNA binding protein S1, serine-rich domain LOC388204 16 LOC388204 ABCA3 16p13.3 ATP-binding cassette, sub-family A (ABC1), member 3 LOC390669 16 similar to ATP-binding cassette transporter ABCA3 CCNF 16p13.3 cyclin F FLJ13909 16p13.3 hypothetical protein FLJ13909 NTN2L 16p13.3 netrin 2-like (chicken) LOC146446 16p13.3 hypothetical LOC146446 KIAA1171 16p13.3 KIAA1171 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    33 - 6623 150 1704 - 1997 9027511
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine  highly
    Endocrinepancreas    
    Reproductivefemale systembreastmammary gland highly Homo sapiens
    Respiratorylung   highly Homo sapiens
    Urinarykidney    
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryalveolar cell type 2 Homo sapiensAdult
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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