ATP-binding cassette sub-family A member 3
Details
- Name
- ATP-binding cassette sub-family A member 3
- Synonyms
- ABC-C transporter
- ABC3
- ATP-binding cassette 3
- ATP-binding cassette transporter 3
- Gene Name
- ABCA3
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0007055|ATP-binding cassette sub-family A member 3 MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQ SIQELPLFFTFPPPGDTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYI RYDNCSSSVLAAVVFEHPFNHSKEPLPLAVKYHLRFSYTRRNYMWTQTGSFFLKETEGWH TTSLFPLFPNPGPREPTSPDGGEPGYIREGFLAVQHAVDRAIMEYHADAATRQLFQRLTV TIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLS SWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFLLCFAISTISF SFMVSTFFSKANMAAAFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQ LIGKFEAKGMGIQWRDLLSPVNVDDDFCFGQVLGMLLLDSVLYGLVTWYMEAVFPGQFGV PQPWYFFIMPSYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFR VGNKDRAAVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQD MVQIRKSLGLCPQHDILFDNLTVAEHLYFYAQLKGLSRQKCPEEVKQMLHIIGLEDKWNS RSRFLSGGMRRKLSIGIALIAGSKVLILDEPTSGMDAISRRAIWDLLQRQKSDRTIVLTT HFMDEADLLGDRIAIMAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNPEDISQLVHHH VPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASFGASITTMEEVFLRVG KLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTG LALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTL GEYGRTVVPFSVPGTSQLGQQLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFN ERCLVAASFRDVGERTVVNALFNNQAYHSPATALAVVDNLLFKLLCGPHASIVVSNFPQP RSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAVSERAVQAKHVQFVSGVHVAS FWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGWAIIPLMYLMN FFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMA VSSFYENYETRRYCTSSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLIL LFLIETNLLQRLRGILCALRRRRTLTELYTRMPVLPEDQDVADERTRILAPSPDSLLHTP LIIKELSKVYEQRVPLLAVDRLSLAVQKGECFGLLGFNGAGKTTTFKMLTGEESLTSGDA FVGGHRISSDVGKVRQRIGYCPQFDALLDHMTGREMLVMYARLRGIPERHIGACVENTLR GLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARA RESGKAIIITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLRAKVQSEGQ QEALEEFKAFVDLTFPGSVLEDEHQGMVHYHLPGRDLSWAKVFGILEKAKEKYGVDDYSV SQISLEQVFLSFAHLQPPTAEEGR
- Number of residues
- 1704
- Molecular Weight
- 191360.235
- Theoretical pI
- 7.65
- GO Classification
- FunctionsATP binding / ATPase activity, coupled to transmembrane movement of substances / transporter activityProcessescellular protein metabolic process / lipid transport / response to drug / transmembrane transport / transportComponentsalveolar lamellar body / alveolar lamellar body membrane / extracellular space / integral component of membrane / lamellar body membrane / membrane / plasma membrane
- General Function
- Transporter activity
- Specific Function
- Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.
- Pfam Domain Function
- ABC_tran (PF00005)
- Transmembrane Regions
- 22-42 261-283 307-327 344-364 373-393 405-425 447-467 925-945 1100-1120 1144-1164 1183-1203 1213-1233 1245-1265 1306-1326
- Cellular Location
- Membrane
- Gene sequence
>lcl|BSEQ0012551|ATP-binding cassette sub-family A member 3 (ABCA3) ATGGCTGTGCTCAGGCAGCTGGCGCTCCTCCTCTGGAAGAACTACACCCTGCAGAAGCGG AAGGTCCTGGTGACGGTCCTGGAACTCTTCCTGCCATTGCTGTTTTCTGGGATCCTCATC TGGCTCCGCTTGAAGATTCAGTCGGAAAATGTGCCCAACGCCACCATCTACCCGGGCCAG TCCATCCAGGAGCTGCCTCTGTTCTTCACCTTCCCTCCGCCAGGAGACACCTGGGAGCTT GCCTACATCCCTTCTCACAGTGACGCTGCCAAGACCGTCACTGAGACAGTGCGCAGGGCA CTTGTGATCAACATGCGAGTGCGCGGCTTTCCCTCCGAGAAGGACTTTGAGGACTACATT AGGTACGACAACTGCTCGTCCAGCGTGCTGGCCGCCGTGGTCTTCGAGCACCCCTTCAAC CACAGCAAGGAGCCCCTGCCGCTGGCGGTGAAATATCACCTACGGTTCAGTTACACACGG AGAAATTACATGTGGACCCAAACAGGCTCCTTTTTCCTGAAAGAGACAGAAGGCTGGCAC ACTACTTCCCTTTTCCCGCTTTTCCCAAACCCAGGACCAAGGGAACCTACATCCCCTGAT GGCGGAGAACCTGGGTACATCCGGGAAGGCTTCCTGGCCGTGCAGCATGCTGTGGACCGG GCCATCATGGAGTACCATGCCGATGCCGCCACACGCCAGCTGTTCCAGAGACTGACGGTG ACCATCAAGAGGTTCCCGTACCCGCCGTTCATCGCAGACCCCTTCCTCGTGGCCATCCAG TACCAGCTGCCCCTGCTGCTGCTGCTCAGCTTCACCTACACCGCGCTCACCATTGCCCGT GCTGTCGTGCAGGAGAAGGAAAGGAGGCTGAAGGAGTACATGCGCATGATGGGGCTCAGC AGCTGGCTGCACTGGAGTGCCTGGTTCCTCTTGTTCTTCCTCTTCCTCCTCATCGCCGCC TCCTTCATGACCCTGCTCTTCTGTGTCAAGGTGAAGCCAAATGTAGCCGTGCTGTCCCGC AGCGACCCCTCCCTGGTGCTCGCCTTCCTGCTGTGCTTCGCCATCTCTACCATCTCCTTC AGCTTCATGGTCAGCACCTTCTTCAGCAAAGCCAACATGGCAGCAGCCTTCGGAGGCTTC CTCTACTTCTTCACCTACATCCCCTACTTCTTCGTGGCCCCTCGGTACAACTGGATGACT CTGAGCCAGAAGCTCTGCTCCTGCCTCCTGTCTAATGTCGCCATGGCAATGGGAGCCCAG CTCATTGGGAAATTTGAGGCGAAAGGCATGGGCATCCAGTGGCGAGACCTCCTGAGTCCC GTCAACGTGGACGACGACTTCTGCTTCGGGCAGGTGCTGGGGATGCTGCTGCTGGACTCT GTGCTCTATGGCCTGGTGACCTGGTACATGGAGGCCGTCTTCCCAGGGCAGTTCGGCGTG CCTCAGCCCTGGTACTTCTTCATCATGCCCTCCTATTGGTGTGGGAAGCCAAGGGCGGTT GCAGGGAAGGAGGAAGAAGACAGTGACCCCGAGAAAGCACTCAGAAACGAGTACTTTGAA GCCGAGCCAGAGGACCTGGTGGCGGGGATCAAGATCAAGCACCTGTCCAAGGTGTTCAGG GTGGGAAATAAGGACAGGGCGGCCGTCAGAGACCTGAACCTCAACCTGTACGAGGGACAG ATCACCGTCCTGCTGGGCCACAACGGTGCCGGGAAGACCACCACCCTCTCCATGCTCACA GGTCTCTTTCCCCCCACCAGTGGACGGGCATACATCAGCGGGTATGAAATTTCCCAGGAC ATGGTTCAGATCCGGAAGAGCCTGGGCCTGTGCCCGCAGCACGACATCCTGTTTGACAAC TTGACAGTCGCAGAGCACCTTTATTTCTACGCCCAGCTGAAGGGCCTGTCACGTCAGAAG TGCCCTGAAGAAGTCAAGCAGATGCTGCACATCATCGGCCTGGAGGACAAGTGGAACTCA CGGAGCCGCTTCCTGAGCGGGGGCATGAGGCGCAAGCTCTCCATCGGCATCGCCCTCATC GCAGGCTCCAAGGTGCTGATACTGGACGAGCCCACCTCGGGCATGGACGCCATCTCCAGG AGGGCCATCTGGGATCTTCTTCAGCGGCAGAAAAGTGACCGCACCATCGTGCTGACCACC CACTTCATGGACGAGGCTGACCTGCTGGGAGACCGCATCGCCATCATGGCCAAGGGGGAG CTGCAGTGCTGCGGGTCCTCGCTGTTCCTCAAGCAGAAATACGGTGCCGGCTATCACATG ACGCTGGTGAAGGAGCCGCACTGCAACCCGGAAGACATCTCCCAGCTGGTCCACCACCAC GTGCCCAACGCCACGCTGGAGAGCAGCGCTGGGGCCGAGCTGTCTTTCATCCTTCCCAGA GAGAGCACGCACAGGTTTGAAGGTCTCTTTGCTAAACTGGAGAAGAAGCAGAAAGAGCTG GGCATTGCCAGCTTTGGGGCATCCATCACCACCATGGAGGAAGTCTTCCTTCGGGTCGGG AAGCTGGTGGACAGCAGTATGGACATCCAGGCCATCCAGCTCCCTGCCCTGCAGTACCAG CACGAGAGGCGCGCCAGCGACTGGGCTGTGGACAGCAACCTCTGTGGGGCCATGGACCCC TCCGACGGCATTGGAGCCCTCATCGAGGAGGAGCGCACCGCTGTCAAGCTCAACACTGGG CTCGCCCTGCACTGCCAGCAATTCTGGGCCATGTTCCTGAAGAAGGCCGCATACAGCTGG CGCGAGTGGAAAATGGTGGCGGCACAGGTCCTGGTGCCTCTGACCTGCGTCACCCTGGCC CTCCTGGCCATCAACTACTCCTCGGAGCTCTTCGACGACCCCATGCTGAGGCTGACCTTG GGCGAGTACGGCAGAACCGTCGTGCCCTTCTCAGTTCCCGGGACCTCCCAGCTGGGTCAG CAGCTGTCAGAGCATCTGAAAGACGCACTGCAGGCTGAGGGACAGGAGCCCCGCGAGGTG CTCGGTGACCTGGAGGAGTTCTTGATCTTCAGGGCTTCTGTGGAGGGGGGCGGCTTTAAT GAGCGGTGCCTTGTGGCAGCGTCCTTCAGAGATGTGGGAGAGCGCACGGTCGTCAACGCC TTGTTCAACAACCAGGCGTACCACTCTCCAGCCACTGCCCTGGCCGTCGTGGACAACCTT CTGTTCAAGCTGCTGTGCGGGCCTCACGCCTCCATTGTGGTCTCCAACTTCCCCCAGCCC CGGAGCGCCCTGCAGGCTGCCAAGGACCAGTTTAACGAGGGCCGGAAGGGATTCGACATT GCCCTCAACCTGCTCTTCGCCATGGCATTCTTGGCCAGCACGTTCTCCATCCTGGCGGTC AGCGAGAGGGCCGTGCAGGCCAAGCATGTGCAGTTTGTGAGTGGAGTCCACGTGGCCAGT TTCTGGCTCTCTGCTCTGCTGTGGGACCTCATCTCCTTCCTCATCCCCAGTCTGCTGCTG CTGGTGGTGTTTAAGGCCTTCGACGTGCGTGCCTTCACGCGGGACGGCCACATGGCTGAC ACCCTGCTGCTGCTCCTGCTCTACGGCTGGGCCATCATCCCCCTCATGTACCTGATGAAC TTCTTCTTCTTGGGGGCGGCCACTGCCTACACGAGGCTGACCATCTTCAACATCCTGTCA GGCATCGCCACCTTCCTGATGGTCACCATCATGCGCATCCCAGCTGTAAAACTGGAAGAA CTTTCCAAAACCCTGGATCACGTGTTCCTGGTGCTGCCCAACCACTGTCTGGGGATGGCA GTCAGCAGTTTCTACGAGAACTACGAGACGCGGAGGTACTGCACCTCCTCCGAGGTCGCC GCCCACTACTGCAAGAAATATAACATCCAGTACCAGGAGAACTTCTATGCCTGGAGCGCC CCGGGGGTCGGCCGGTTTGTGGCCTCCATGGCCGCCTCAGGGTGCGCCTACCTCATCCTG CTCTTCCTCATCGAGACCAACCTGCTTCAGAGACTCAGGGGCATCCTCTGCGCCCTCCGG AGGAGGCGGACACTGACAGAATTATACACCCGGATGCCTGTGCTTCCTGAGGACCAAGAT GTAGCGGACGAGAGGACCCGCATCCTGGCCCCCAGCCCGGACTCCCTGCTCCACACACCT CTGATTATCAAGGAGCTCTCCAAGGTGTACGAGCAGCGGGTGCCCCTCCTGGCCGTGGAC AGGCTCTCCCTCGCGGTGCAGAAAGGGGAGTGCTTCGGCCTGCTGGGCTTCAATGGAGCC GGGAAGACCACGACTTTCAAAATGCTGACCGGGGAGGAGAGCCTCACTTCTGGGGATGCC TTTGTCGGGGGTCACAGAATCAGCTCTGATGTCGGAAAGGTGCGGCAGCGGATCGGCTAC TGCCCGCAGTTTGATGCCTTGCTGGACCACATGACAGGCCGGGAGATGCTGGTCATGTAC GCTCGGCTCCGGGGCATCCCTGAGCGCCACATCGGGGCCTGCGTGGAGAACACTCTGCGG GGCCTGCTGCTGGAGCCACATGCCAACAAGCTGGTCAGGACGTACAGTGGTGGTAACAAG CGGAAGCTGAGCACCGGCATCGCCCTGATCGGAGAGCCTGCTGTCATCTTCCTGGACGAG CCGTCCACTGGCATGGACCCCGTGGCCCGGCGCCTGCTTTGGGACACCGTGGCACGAGCC CGAGAGTCTGGCAAGGCCATCATCATCACCTCCCACAGCATGGAGGAGTGTGAGGCCCTG TGCACCCGGCTGGCCATCATGGTGCAGGGGCAGTTCAAGTGCCTGGGCAGCCCCCAGCAC CTCAAGAGCAAGTTCGGCAGCGGCTACTCCCTGCGGGCCAAGGTGCAGAGTGAAGGGCAA CAGGAGGCGCTGGAGGAGTTCAAGGCCTTCGTGGACCTGACCTTTCCAGGCAGCGTCCTG GAAGATGAGCACCAAGGCATGGTCCATTACCACCTGCCGGGCCGTGACCTCAGCTGGGCG AAGGTTTTCGGTATTCTGGAGAAAGCCAAGGAAAAGTACGGCGTGGACGACTACTCCGTG AGCCAGATCTCGCTGGAACAGGTCTTCCTGAGCTTCGCCCACCTGCAGCCGCCCACCGCA GAGGAGGGGCGATGA
- Chromosome Location
- 16
- Locus
- 16p13.3
- External Identifiers
Resource Link UniProtKB ID Q99758 UniProtKB Entry Name ABCA3_HUMAN GenBank Protein ID 1699038 GenBank Gene ID U78735 HGNC ID HGNC:33 - General References
- Klugbauer N, Hofmann F: Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. FEBS Lett. 1996 Aug 5;391(1-2):61-5. [Article]
- Connors TD, Van Raay TJ, Petry LR, Klinger KW, Landes GM, Burn TC: The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. Genomics. 1997 Jan 15;39(2):231-4. [Article]
- Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N: ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett. 2001 Nov 16;508(2):221-5. [Article]
- Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA: The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. [Article]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
- Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M: ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004 Mar 25;350(13):1296-303. [Article]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [Article]