LOCUS AF165281 9497 bp mRNA linear HUM 17-AUG-1999
DEFINITION Homo sapiens ATP cassette binding transporter 1 (ABC1) mRNA,
complete cds.
ACCESSION AF165281
VERSION AF165281.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 9497)
AUTHORS Rust,S., Rosier,M., Funke,H., Real,J., Amoura,Z., Piette,J.C.,
Deleuze,J.F., Brewer,H.B., Duverger,N., Denefle,P. and Assmann,G.
TITLE Tangier disease is caused by mutations in the gene encoding
ATP-binding cassette transporter 1
JOURNAL Nat. Genet. 22 (4), 352-355 (1999)
PUBMED 10431238
REFERENCE 2 (bases 1 to 9497)
AUTHORS Rust,S., Rosier,M., Funke,H., Real,J., Amoura,Z., Piette,J.C.,
Deleuze,J.F., Brewer,H.B., Duverger,N., Denefle,P. and Assmann,G.
TITLE Direct Submission
JOURNAL Submitted (01-JUL-1999) Genomics, Rhone-Poulenc Rorer, 2 rue Gaston
Cr#mieux, Evry 91006, France
FEATURES Location/Qualifiers
source 1..9497
/db_xref="H-InvDB:HIT000072269"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q31"
gene 1..9497
/gene="ABC1"
CDS 121..6726
/gene="ABC1"
/note="ABC transporter; ABC1 protein"
/codon_start=1
/product="ATP cassette binding transporter 1"
/protein_id="AAD49849.1"
/translation="MPSAGTLPWVQGIICNANNPCFRYPTPGEAPGVVGNFNKSIVAR
LFSDARRLLLYSQKDTSMKDMRKVLRTLQQIKKSSSNLKLQDFLVDNETFSGFLYHNL
SLPKSTVDKMLRADVILHKVFLQGYQLHLTSLCNGSKSEEMIQLGDQEVSELCGLPRE
KLAAAERVLRSNMDILKPILRTLNSTSPFPSKELAEATKTLLHSLGTLAQELFSMRSW
SDMRQEVMFLTNVNSSSSSTQIYQAVSRIVCGHPEGGGLKIKSLNWYEDNNYKALFGG
NGTEEDAETFYDNSTTPYCNDLMKNLESSPLSRIIWKALKPLLVGKILYTPDTPATRQ
VMAEVNKTFQELAVFHDLEGMWEELSPKIWTFMENSQEMDLVRMLLDSRDNDHFWEQQ
LDGLDWTAQDIVAFLAKHPEDVQSSNGSVYTWREAFNETNQAIRTISRFMECVNLNKL
EPIATEVWLINKSMELLDERKFWAGIVFTGITPGSIELPHHVKYKIRMDIDNVERTNK
IKDGYWDPGPRADPFEDMRYVWGGFAYLQDVVEQAIIRVLTGTEKKTGVYMQQMPYPC
YVDDIFLRVMSRSMPLFMTLAWIYSVAVIIKGIVYEKEARLKETMRIMGLDNSILWFS
WFISSLIPLLVSAGLLVVILKLGNLLPYSDPSVVFVFLSVFAVVTILQCFLISTLFSR
ANLAAACGGIIYFTLYLPYVLCVAWQDYVGFTLKIFASLLSPVAFGFGCEYFALFEEQ
GIGVQWDNLFESPVEEDGFNLTTSVSMMLFDTFLYGVMTWYIEAVFPGQYGIPRPWYF
PCTKSYWFGEESDEKSHPGSNQKRISEICMEEEPTHLKLGVSIQNLVKVYRDGMKVAV
DGLALNFYEGQITSFLGHNGAGKTTTMSILTGLFPPTSGTAYILGKDIRSEMSTIRQN
LGVCPQHNVLFDMLTVEEHIWFYARLKGLSEKHVKAEMEQMALDVGLPSSKLKSKTSQ
LSGGMQRKLSVALAFVGGSKVVILDEPTAGVDPYSRRGIWELLLKYRQGRTIILSTHH
MDEADVLGDRIAIISHGKLCCVGSSLFLKNQLGTGYYLTLVKKDVESSLSSCRNSSST
VSYLKKEDSVSQSSSDAGLGSDHESDTLTIDVSAISNLIRKHVSEARLVEDIGHELTY
VLPYEAAKEGAFVELFHEIDDRLSDLGISSYGISETTLEEIFLKVAEESGVDAETSDG
TLPARRNRRAFGDKQSCLRPFTEDDAADPNDSDIDPESRETDLLSGMDGKGSYQVKGW
KLTQQQFVALLWKRLLIARRSRKGFFAQIVLPAVFVCIALVFSLIVPPFGKYPSLELQ
PWMYNEQYTFVSNDAPEDTGTLELLNALTKDPGFGTRCMEGNPIPDTPCQAGEEEWTT
APVPQTIMDLFQNGNWTMQNPSPACQCSSDKIKKMLPVCPPGAGGLPPPQRKQNTADI
LQDLTGRNISDYLVKTYVQIIAKSLKNKIWVNEFRYGGFSLGVSNTQALPPSQEVNDA
TKQMKKHLKLAKDSSADRFLNSLGRFMTGLDTRNNVKVWFNNKGWHAISSFLNVINNA
ILRANLQKGENPSHYGITAFNHPLNLTKQQLSEVAPMTTSVDVLVSICVIFAMSFVPA
SFVVFLIQERVSKAKHLQFISGVKPVIYWLSNFVWDMCNYVVPATLVIIIFICFQQKS
YVSSTNLPVLALLLLLYGWSITPLMYPASFVFKIPSTAYVVLTSVNLFIGINGSVATF
VLELFTDNKLNNINDILKSVFLIFPHFCLGRGLIDMVKNQAMADALERFGENRFVSPL
SWDLVGRNLFAMAVEGVVFFLITVLIQYRFFIRPRPVNAKLSPLNDEDEDVRRERQRI
LDGGGQNDILEIKELTKIYRRKRKPAVDRICVGIPPGECFGLLGVNGAGKSSTFKMLT
GDTTVTRGDAFLNRNSILSNIHEVHQNMGYCPQFDAITELLTGREHVEFFALLRGVPE
KEVGKVGEWAIRKLGLVKYGEKYAGNYSGGNKRKLSTAMALIGGPPVVFLDEPTTGMD
PKARRFLWNCALSVVKEGRSVVLTSHSMEECEALCTRMAIMVNGRFRCLGSVQHLKNR
FGDGYTIVVRIAGSNPDLKPVQDFFGLAFPGSVPKEKHRNMLQYQLPSSLSSLARIFS
ILSQSKKRLHIEDYSVSQTTLDQVFVNFAKDQSDDDHLKDLSLHKNQTVVDVAVLTSF
LQDEKVKESYV"
BASE COUNT 2600 a 2115 c 2217 g 2564 t
ORIGIN
1 caaacatgtc agctgttact ggaagtggcc tggcctctat ttatcttcct gatcctgatc
61 tctgttcggc tgagctaccc accctatgaa caacatgaat gccattttcc aaataaagcc
121 atgccctctg caggaacact tccttgggtt caggggatta tctgtaatgc caacaacccc
181 tgtttccgtt acccgactcc tggggaggct cccggagttg ttggaaactt taacaaatcc
241 attgtggctc gcctgttctc agatgctcgg aggcttcttt tatacagcca gaaagacacc
301 agcatgaagg acatgcgcaa agttctgaga acattacagc agatcaagaa atccagctca
361 aacttgaagc ttcaagattt cctggtggac aatgaaacct tctctgggtt cctgtatcac
421 aacctctctc tcccaaagtc tactgtggac aagatgctga gggctgatgt cattctccac
481 aaggtatttt tgcaaggcta ccagttacat ttgacaagtc tgtgcaatgg atcaaaatca
541 gaagagatga ttcaacttgg tgaccaagaa gtttctgagc tttgtggcct accaagggag
601 aaactggctg cagcagagcg agtacttcgt tccaacatgg acatcctgaa gccaatcctg
661 agaacactaa actctacatc tcccttcccg agcaaggagc tggccgaagc cacaaaaaca
721 ttgctgcata gtcttgggac tctggcccag gagctgttca gcatgagaag ctggagtgac
781 atgcgacagg aggtgatgtt tctgaccaat gtgaacagct ccagctcctc cacccaaatc
841 taccaggctg tgtctcgtat tgtctgcggg catcccgagg gaggggggct gaagatcaag
901 tctctcaact ggtatgagga caacaactac aaagccctct ttggaggcaa tggcactgag
961 gaagatgctg aaaccttcta tgacaactct acaactcctt actgcaatga tttgatgaag
1021 aatttggagt ctagtcctct ttcccgcatt atctggaaag ctctgaagcc gctgctcgtt
1081 gggaagatcc tgtatacacc tgacactcca gccacaaggc aggtcatggc tgaggtgaac
1141 aagaccttcc aggaactggc tgtgttccat gatctggaag gcatgtggga ggaactcagc
1201 cccaagatct ggaccttcat ggagaacagc caagaaatgg accttgtccg gatgctgttg
1261 gacagcaggg acaatgacca cttttgggaa cagcagttgg atggcttaga ttggacagcc
1321 caagacatcg tggcgttttt ggccaagcac ccagaggatg tccagtccag taatggttct
1381 gtgtacacct ggagagaagc tttcaacgag actaaccagg caatccggac catatctcgc
1441 ttcatggagt gtgtcaacct gaacaagcta gaacccatag caacagaagt ctggctcatc
1501 aacaagtcca tggagctgct ggatgagagg aagttctggg ctggtattgt gttcactgga
1561 attactccag gcagcattga gctgccccat catgtcaagt acaagatccg aatggacatt
1621 gacaatgtgg agaggacaaa taaaatcaag gatgggtact gggaccctgg tcctcgagct
1681 gacccctttg aggacatgcg gtacgtctgg gggggcttcg cctacttgca ggatgtggtg
1741 gagcaggcaa tcatcagggt gctgacgggc accgagaaga aaactggtgt ctatatgcaa
1801 cagatgccct atccctgtta cgttgatgac atctttctgc gggtgatgag ccggtcaatg
1861 cccctcttca tgacgctggc ctggatttac tcagtggctg tgatcatcaa gggcatcgtg
1921 tatgagaagg aggcacggct gaaagagacc atgcggatca tgggcctgga caacagcatc
1981 ctctggttta gctggttcat tagtagcctc attcctcttc ttgtgagcgc tggcctgcta
2041 gtggtcatcc tgaagttagg aaacctgctg ccctacagtg atcccagcgt ggtgtttgtc
2101 ttcctgtccg tgtttgctgt ggtgacaatc ctgcagtgct tcctgattag cacactcttc
2161 tccagagcca acctggcagc agcctgtggg ggcatcatct acttcacgct gtacctgccc
2221 tacgtcctgt gtgtggcatg gcaggactac gtgggcttca cactcaagat cttcgctagc
2281 ctgctgtctc ctgtggcttt tgggtttggc tgtgagtact ttgccctttt tgaggagcag
2341 ggcattggag tgcagtggga caacctgttt gagagtcctg tggaggaaga tggcttcaat
2401 ctcaccactt cggtctccat gatgctgttt gacaccttcc tctatggggt gatgacctgg
2461 tacattgagg ctgtctttcc aggccagtac ggaattccca ggccctggta ttttccttgc
2521 accaagtcct actggtttgg cgaggaaagt gatgagaaga gccaccctgg ttccaaccag
2581 aagagaatat cagaaatctg catggaggag gaacccaccc acttgaagct gggcgtgtcc
2641 attcagaacc tggtaaaagt ctaccgagat gggatgaagg tggctgtcga tggcctggca
2701 ctgaattttt atgagggcca gatcacctcc ttcctgggcc acaatggagc ggggaagacg
2761 accaccatgt caatcctgac cgggttgttc cccccgacct cgggcaccgc ctacatcctg
2821 ggaaaagaca ttcgctctga gatgagcacc atccggcaga acctgggggt ctgtccccag
2881 cataacgtgc tgtttgacat gctgactgtc gaagaacaca tctggttcta tgcccgcttg
2941 aaagggctct ctgagaagca cgtgaaggcg gagatggagc agatggccct ggatgttggt
3001 ttgccatcaa gcaagctgaa aagcaaaaca agccagctgt caggtggaat gcagagaaag
3061 ctatctgtgg ccttggcctt tgtcggggga tctaaggttg tcattctgga tgaacccaca
3121 gctggtgtgg acccttactc ccgcagggga atatgggagc tgctgctgaa ataccgacaa
3181 ggccgcacca ttattctctc tacacaccac atggatgaag cggacgtcct gggggacagg
3241 attgccatca tctcccatgg gaagctgtgc tgtgtgggct cctccctgtt tctgaagaac
3301 cagctgggaa caggctacta cctgaccttg gtcaagaaag atgtggaatc ctccctcagt
3361 tcctgcagaa acagtagtag cactgtgtca tacctgaaaa aggaggacag tgtttctcag
3421 agcagttctg atgctggcct gggcagcgac catgagagtg acacgctgac catcgatgtc
3481 tctgctatct ccaacctcat caggaagcat gtgtctgaag cccggctggt ggaagacata
3541 gggcatgagc tgacctatgt gctgccatat gaagctgcta aggagggagc ctttgtggaa
3601 ctctttcatg agattgatga ccggctctca gacctgggca tttctagtta tggcatctca
3661 gagacgaccc tggaagaaat attcctcaag gtggccgaag agagtggggt ggatgctgag
3721 acctcagatg gtaccttgcc agcaagacga aacaggcggg ccttcgggga caagcagagc
3781 tgtcttcgcc cgttcactga agatgatgct gctgatccaa atgattctga catagaccca
3841 gaatccagag agacagactt gctcagtggg atggatggca aagggtccta ccaggtgaaa
3901 ggctggaaac ttacacagca acagtttgtg gcccttttgt ggaagagact gctaattgcc
3961 agacggagtc ggaaaggatt ttttgctcag attgtcttgc cagctgtgtt tgtctgcatt
4021 gcccttgtgt tcagcctgat cgtgccaccc tttggcaagt accccagcct ggaacttcag
4081 ccctggatgt acaacgaaca gtacacattt gtcagcaatg atgctcctga ggacacggga
4141 accctggaac tcttaaacgc cctcaccaaa gaccctggct tcgggacccg ctgtatggaa
4201 ggaaacccaa tcccagacac gccctgccag gcaggggagg aagagtggac cactgcccca
4261 gttccccaga ccatcatgga cctcttccag aatgggaact ggacaatgca gaacccttca
4321 cctgcatgcc agtgtagcag cgacaaaatc aagaagatgc tgcctgtgtg tcccccaggg
4381 gcaggggggc tgcctcctcc acaaagaaaa caaaacactg cagatatcct tcaggacctg
4441 acaggaagaa acatttcgga ttatctggtg aagacgtatg tgcagatcat agccaaaagc
4501 ttaaagaaca agatctgggt gaatgagttt aggtatggcg gcttttccct gggtgtcagt
4561 aatactcaag cacttcctcc gagtcaagaa gttaatgatg ccaccaaaca aatgaagaaa
4621 cacctaaagc tggccaagga cagttctgca gatcgatttc tcaacagctt gggaagattt
4681 atgacaggac tggacaccag aaataatgtc aaggtgtggt tcaataacaa gggctggcat
4741 gcaatcagct ctttcctgaa tgtcatcaac aatgccattc tccgggccaa cctgcaaaag
4801 ggagagaacc ctagccatta tggaattact gctttcaatc atcccctgaa tctcaccaag
4861 cagcagctct cagaggtggc tccgatgacc acatcagtgg atgtccttgt gtccatctgt
4921 gtcatctttg caatgtcctt cgtcccagcc agctttgtcg tattcctgat ccaggagcgg
4981 gtcagcaaag caaaacacct gcagttcatc agtggagtga agcctgtcat ctactggctc
5041 tctaattttg tctgggatat gtgcaattac gttgtccctg ccacactggt cattatcatc
5101 ttcatctgct tccagcagaa gtcctatgtg tcctccacca atctgcctgt gctagccctt
5161 ctacttttgc tgtatgggtg gtcaatcaca cctctcatgt acccagcctc ctttgtgttc
5221 aagatcccca gcacagccta tgtggtgctc accagcgtga acctcttcat tggcattaat
5281 ggcagcgtgg ccacctttgt gctggagctg ttcaccgaca ataagctgaa taatatcaat
5341 gatatcctga agtccgtgtt cttgatcttc ccacattttt gcctgggacg agggctcatc
5401 gacatggtga aaaaccaggc aatggctgat gccctggaaa ggtttgggga gaatcgcttt
5461 gtgtcaccat tatcttggga cttggtggga cgaaacctct tcgccatggc cgtggaaggg
5521 gtggtgttct tcctcattac tgttctgatc cagtacagat tcttcatcag gcccagacct
5581 gtaaatgcaa agctatctcc tctgaatgat gaagatgaag atgtgaggcg ggaaagacag
5641 agaattcttg atggtggagg ccagaatgac atcttagaaa tcaaggagtt gacgaagata
5701 tatagaagga agcggaagcc tgctgttgac aggatttgcg tgggcattcc tcctggtgag
5761 tgctttgggc tcctgggagt taatggggct ggaaaatcat caactttcaa gatgttaaca
5821 ggagatacca ctgttaccag aggagatgct ttccttaaca gaaatagtat cttatcaaac
5881 atccatgaag tacatcagaa catgggctac tgccctcagt ttgatgccat cacagagctg
5941 ttgactggga gagaacacgt ggagttcttt gcccttttga gaggagtccc agagaaagaa
6001 gttggcaagg ttggtgagtg ggcgattcgg aaactgggcc tcgtgaagta tggagaaaaa
6061 tatgctggta actatagtgg aggcaacaaa cgcaagctct ctacagccat ggctttgatc
6121 ggcgggcctc ctgtggtgtt tctggatgaa cccaccacag gcatggatcc caaagcccgg
6181 cggttcttgt ggaattgtgc cctaagtgtt gtcaaggagg ggagatcagt agtgcttaca
6241 tctcatagta tggaagaatg tgaagctctt tgcactagga tggcaatcat ggtcaatgga
6301 aggttcaggt gccttggcag tgtccagcat ctaaaaaata ggtttggaga tggttataca
6361 atagttgtac gaatagcagg gtccaacccg gacctgaagc ctgtccagga tttctttgga
6421 cttgcatttc ctggaagtgt tccaaaagag aaacaccgga acatgctaca ataccagctt
6481 ccatcttcat tatcttctct ggccaggata ttcagcatcc tctcccagag caaaaagcga
6541 ctccacatag aagactactc tgtttctcag acaacacttg accaagtatt tgtgaacttt
6601 gccaaggacc aaagtgatga tgaccactta aaagacctct cattacacaa aaaccagaca
6661 gtagtggacg ttgcagttct cacatctttt ctacaggatg agaaagtgaa agaaagctat
6721 gtatgaagaa tcctgttcat acggggtggc tgaaagtaaa gaggnactag actttccttt
6781 gcaccatgtg aagtgttgtg gagaaaagag ccagaagttg atgtgggaag aagtaaactg
6841 gatactgtac tgatactatt caatgcaatg caattcaatg caatgaaaac aaaattccat
6901 tacaggggca gtgcctttgt agcctatgtc ttgtatggct ctcaagtgaa agacttgaat
6961 ttagtttttt acctatacct atgtgaaact ctattatgga acccaatgga catatgggtt
7021 tgaactcaca cttttttttt ttttttgttc ctgtgtattc tcattggggt tgcaacaata
7081 attcatcaag taatcatggc cagcgattat tgatcaaaat caaaaggtaa tgcacatcct
7141 cattcactaa gccatgccat gcccaggaga ctggtttccc ggtgacacat ccattgctgg
7201 caatgagtgt gccagagtta ttagtgccaa gtttttcaga aagtttgaag caccatggtg
7261 tgtcatgctc acttttgtga aagctgctct gctcagagtc tatcaacatt gaatatcagt
7321 tgacagaatg gtgccatgcg tggctaacat cctgctttga ttccctctga taagctgttc
7381 tggtggcagt aacatgcaac aaaaatgtgg gtgtctctag gcacgggaaa cttggttcca
7441 ttgttatatt gtcctatgct tcgagccatg ggtctacagg gtcatcctta tgagactctt
7501 aaatatactt agatcctggt aagaggcaaa gaatcaacag ccaaactgct ggggctgcaa
7561 gctgctgaag ccagggcatg ggattaaaga gattgtgcgt tcaaacctag ggaagcctgt
7621 gcccatttgt cctgactgtc tgctaacatg gtacactgca tctcaagatg tttatctgac
7681 acaagtgtat tatttctggc tttttgaatt aatctagaaa atgaaaagat ggagttgtat
7741 tttgacaaaa atgtttgtac tttttaatgt tatttggaat tttaagttct atcagtgact
7801 tctgaatcct tagaatggcc tctttgtaga accctgtggt atagaggagt atggccactg
7861 ccccactatt tttattttct tatgtaagtt tgcatatcag tcatgactag tgcctagaaa
7921 gcaatgtgat ggtcaggatc tcatgacatt atatttgagt ttctttcaga tcatttagga
7981 tactcttaat ctcacttcat caatcaaata ttttttgagt gtatgctgta gctgaaagag
8041 tatgtacgta cgtataagac tagagagata ttaagtctca gtacacttcc tgtgccatgt
8101 tattcagctc actggtttac aaatataggt tgtcttgtgg ttgtaggagc ccactgtaac
8161 aatactgggc agcctttttt ttttttttta attgcaacaa tgcaaaagcc aagaaagtat
8221 aagggtcaca agtctaaaca atgaattctt caacagggaa aacagctagc ttgaaaactt
8281 gctgaaaaac acaacttgtg tttatggcat ttagtacctt caaataattg gctttgcaga
8341 tattggatac cccattaaat ctgacagtct caaatttttc atctcttcaa tcactagtca
8401 agaaaaatat aaaaacaaca aatacttcca tatggagcat ttttcagagt tttctaaccc
8461 agtcttattt ttctagtcag taaacatttg taaaaatact gtttcactaa tacttactgt
8521 taactgtctt gagagaaaag aaaaatatga gagaactatt gtttggggaa gttcaagtga
8581 tctttcaata tcattactaa cttcttccac tttttccaaa atttgaatat taacgctaaa
8641 ggtgtaagac ttcagatttc aaattaatct ttctatattt tttaaattta cagaatatta
8701 tataacccac tgctgaaaaa gaaaaaaatg attgttttag aagttaaagt caatattgat
8761 tttaaatata agtaatgaag gcatatttcc aataactagt gatatggcat cgttgcattt
8821 tacagtatct tcaaaaatac agaatttata gaataatttc tcctcattta atatttttca
8881 aaatcaaagt tatggtttcc tcattttact aaaatcgtat tctaattctt cattatagta
8941 aatctatgag caactcctta cttcggttcc tctgatttca aggccatatt ttaaaaaatc
9001 aaaaggcact gtgaactatt ttgaagaaaa cacaacattt taatacagat tgaaaggacc
9061 tcttctgaag ctagaaacaa tctatagtta tacatcttca ttaatactgt gttacctttt
9121 aaaatagtaa ttttttacat tttcctgtgt aaacctaatt gtggtagaaa tttttaccaa
9181 ctctatactc aatcaagcaa aatttctgta tattccctgt ggaatgtacc tatgtgagtt
9241 tcagaaattc tcaaaatacg tgttcaaaaa tttctgcttt tgcatctttg ggacacctca
9301 gaaaacttat taacaactgt gaatatgaga aatacagaag aaaataataa gccctctata
9361 cataaatgcc cagcacaatt cattgttaaa aaacaaccaa acctcacact actgtatttc
9421 attatctgta ctgaaagcaa atgctttgtg actattaaat gttgcacatc attcattcaa
9481 aaaaaaaaaa aaaaaaa
//