Abca3
entrez
27410
canonical
uniprot
Q8R420
canonical
ensembl
ENSMUSG00000024130
resolver
ensp
ENSMUSP00000045285
resolver
ensp
ENSMUSP00000078544
resolver
ensp
ENSMUSP00000113538
resolver
enst
ENSMUST00000039013
resolver
enst
ENSMUST00000079594
resolver
enst
ENSMUST00000117337
resolver
genesymbol
Abca3
resolver
uniprot
F7BQP1
resolver
uniprot
Q3TN91
resolver
uniprot
Q3U3L4
resolver
uniprot
Q6AXE3
resolver
uniprot_entry
ABCA3_MOUSE
resolver
uniprot_entry
F7BQP1_MOUSE
resolver
uniprot_entry
Q3TN91_MOUSE
resolver
uniprot_entry
Q6AXE3_MOUSE
resolver
uniprot_sec
Q3U3L4
resolver
amino_acid_sequence
MAVLRQLTLLLWKNYTLKKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATVYPDQSIQELPLFFSFPPPGGTWELAYVPSHSDAARTITETVKREFMIKMRVHGFSSEKDFEDYIRYDNHSSSVLAAVVFEHSFNHSQDPLPLAVKYHLRFSYTRRNYMWTQTGNIFLKETEGWHTTSLFPLFPSPGPREPSSPDGGEPGYIREGFLAMQHAVDKAIMRYHANTSAQQLFQKLMVITKRFPFPPYISDPFLIAIQYQLPLLLMLSFTYTSLTIIRAVVQEKEKKLKEYMRMMGLNSWLHWSAWFLMFFLFFLIVVSFMTLLFCVKVKKDIAVLSNSDPSLVLAFLLCFAISSISFSFMVSTFFSKANIAAAVGGFLYFFTYTPYFFVAPRYNWMTLSQKLLSCLLSNVAMAMGAQLIGKFEAKGTGIQWRDLLNPVNVDDNFCFGQVLGMLLLDSALYGLVTWYVEAVFPGQFGVPQPWHFFLMPSYWCGNPRTVVGKEEEGSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFQVGNKDKMGIRDLTLNLYEGQITVLLGHNGAGKTTTMSLLTGLFPPTSGHAYIHGYEISQDMAQIRKSLGLCPQHDVLFDNLTVAEHLYFYAQLKGLSLQKCPEEVKQMLHILSLEDKRDLRSKFLSGGMKRKLSIGIALIAGSKVLMLDEPTSGMDAVSRRAIWDLLQQQKSDRTVLLTTHFMDEADLLGDRIAILAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNPEGISQLVHHHVPNAMLESHAGAELSFILPKESTHRFESLFAKLEKKQKELGIASFGASVTTMEEVFLRVGKLVDTSMDIQAIQLPALQYQHERRASDWALDSNLCGVMDPTNGIGALIEEEEVLVKLNTGLALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCLTLALLAIHYTSEIFDDPLLKLSLNEYGRTVVPFSVPGTSRLAQQLSENLRDMLQAERQEPREVLGDLEEFLVFRASVEGGGFNERCLVATSFKDRGELTVVTALFNNQAYHSPATALAIVDNLLFKLLCGPQASIEISNYPQPRNTLQVAKDHFNEGRKGFDIALNLLIAMAFLASTFSILAVSERAVQAKHVQFVSGVHVATFWFSALLWDLISFLVPSLLLLVVFQAFNVHAFTRDGHMADLLLLLMLYGWAIIPLMYLMSFFFSAASTAYTRLTIFNILSGIATFIMVTIMRIPAVKLEELSRTLDHVFLVLPNHCLGMAVSNFYENYETRRYCTSSELAAHYCKKYNIQYQESFYAWSTPGVGKFVTSMAASGGIYLTLLFLIETNLLWRLRTFICAFRRRWTLAELQNRTSVLPEDQDVAEERSRILVPSLDSMLDTPLIINELSKVYDQRAPLLAVDRISLAVQKGECFGLLGFNGAGKTTTFKMLTGEETITSGDAFVGGYSISSDIGKVRQRMGYCPQFDALLDHMTGREMLVMYARLRGIPERLINACVENTLRGLLLEPHANKLVKTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARARESGKAIVITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLQAKVRSEGKQDALEEFKAFVDLTFPGSILEDEHQDMVHYHLPGCDLSWAKVFGILEKAKEKYGVDDYSVSQISLEQVFLSFAHLQPPTTEDGR
uniprot
proteins
ec_number
7.6.2.1
uniprot
proteins
ec_number
7.6.2.2
uniprot
proteins
function
FUNCTION: Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pulmonary surfactant (PubMed:17142808, PubMed:17267394, PubMed:17540762, PubMed:17577581, PubMed:20190032, PubMed:28034695). Transports preferentially phosphatidylcholine containing short acyl chains (PubMed:17142808). In addition plays a role as an efflux transporter of miltefosine across macrophage membranes and free cholesterol (FC) through intralumenal vesicles by removing FC from the cell as a component of surfactant and protects cells from free cholesterol toxicity (By similarity). {ECO:0000250|UniProtKB:Q99758, ECO:0000269|PubMed:17142808, ECO:0000269|PubMed:17267394, ECO:0000269|PubMed:17540762, ECO:0000269|PubMed:17577581, ECO:0000269|PubMed:20190032, ECO:0000269|PubMed:28034695}.
uniprot
proteins
mass_dalton
191971
uniprot
proteins
mutagenesis
MUTAGEN 292; /note="E->V: Knockin new born mice are healthy and survive into adulthood without overt signs of respiratory distress. Knockin mice show a severe lung phenotype that begins with alveolar inflammatory cell infiltration at the early stage of the mouse life followed by aberrant lung remodeling with characteristics of diffuse parenchymal lung disease (DPLD)- and emphysema-like alveolar disruption in older mice."; /evidence="ECO:0000269|PubMed:28034695
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. Localization at intracellular vesicles is accompanied by processing of oligosaccharide from high mannose type to complex type. N-linked glycosylation at Asn-124 and Asn-140 is required for stability and efficient anterograde trafficking and prevents from proteasomal degradation. {ECO:0000250|UniProtKB:Q99758}.; PTM: Proteolytically cleaved by CTSL and to a lower extent by CTSB within multivesicular bodies (MVB) and lamellar bodies (LB) leading to a mature form of 150 kDa. {ECO:0000250|UniProtKB:Q99758}.
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCA family
uniprot
proteins
pubmed
11940594
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17142808
uniprot
proteins
pubmed
17267394
uniprot
proteins
pubmed
17540762
uniprot
proteins
pubmed
17577581
uniprot
proteins
pubmed
20190032
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
28034695
uniprot
proteins
sequence_length
1704
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endosome, multivesicular body membrane {ECO:0000250|UniProtKB:Q99758}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q99758}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q99758}. Late endosome membrane {ECO:0000250|UniProtKB:Q99758}. Lysosome membrane {ECO:0000250|UniProtKB:Q99758}. Note=Localized in the limiting membrane of lamellar bodies in lung alveolar type II cells (PubMed:11940594). Trafficks via the Golgi, sorting vesicles (SVs) and late endosome/multivesicular body network directly to the outer membrane of lamellar bodies in AT2 lung epithelial cells or to lysosomes and lysosomal-related organelles (LROs) in other cells where undergoes proteolytic cleavage and oligosaccharide processing from high mannose type to complex type. Oligomers formation takes place in a post-endoplasmic reticulum compartment (By similarity). {ECO:0000250|UniProtKB:Q99758, ECO:0000269|PubMed:11940594}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 261..283; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 307..327; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 344..364; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 373..393; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 405..425; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 447..467; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 925..945; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1100..1120; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1144..1164; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1183..1203; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1213..1233; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1245..1265; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1310..1330; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins