LOCUS DQ015922 4065 bp mRNA linear HUM 18-MAY-2005
DEFINITION Homo sapiens Wilson's disease protein (ATP7B) mRNA, complete cds.
ACCESSION DQ015922
VERSION DQ015922.1
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 4065)
AUTHORS Carlini,E.J. and Booth-Genthe,C.L.
TITLE Molecular cloning of mutant ATP7B
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 4065)
AUTHORS Carlini,E.J. and Booth-Genthe,C.L.
TITLE Direct Submission
JOURNAL Submitted (22-APR-2005) Drug Metabolism, Merck Research
Laboratories, WP75A-203, West Point, PA 19486, USA
FEATURES Location/Qualifiers
source 1..4065
/db_xref="H-InvDB:HIT000340995"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..4065
/gene="ATP7B"
CDS 1..4065
/gene="ATP7B"
/note="copper transport protein; mutant protein"
/codon_start=1
/product="Wilson's disease protein"
/protein_id="AAY41166.1"
/translation="MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGY
EGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKY
VPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSS
IEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLS
LGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCMISQLEGV
QQISVSLAEGTATVLYNPAVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSM
VQTTDGTPTSLQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCV
SNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAG
SDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDII
KIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNE
PHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVL
ATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALA
KLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTM
ADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMS
KAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQKYFPNPNKHISQTEVI
IRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVM
FDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEEL
GTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAAP
QTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVK
QEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQN
KGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSK
RTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQL
KCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLS
SLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI"
BASE COUNT 979 a 1052 c 1123 g 911 t
ORIGIN
1 atgcctgaac aggagagaca gatcacagcc agagaagggg ccagtcggaa aatcttatct
61 aagctttctt tgcctacccg tgcctgggaa ccagcaatga agaagagttt tgcttttgac
121 aatgttggct atgaaggtgg tctggatggc ctgggccctt cttctcaggt ggccaccagc
181 acagtcagga tcttgggcat gacttgccag tcatgtgtga agtccattga ggacaggatt
241 tccaatttga aaggcatcat cagcatgaag gtttccctgg aacaaggcag tgccactgtg
301 aaatatgtgc catcggttgt gtgcctgcaa caggtttgcc atcaaattgg ggacatgggc
361 ttcgaggcca gcattgcaga aggaaaggca gcctcctggc cctcaaggtc cttgcctgcc
421 caggaggctg tggtcaagct ccgggtggag ggcatgacct gccagtcctg tgtcagctcc
481 attgaaggca aggtccggaa actgcaagga gtagtgagag tcaaagtctc actcagcaac
541 caagaggccg tcatcactta tcagccttat ctcattcagc ccgaagacct cagggaccat
601 gtaaatgaca tgggatttga agctgccatc aagagcaaag tggctccctt aagcctggga
661 ccaattgata ttgagcggtt acaaagcact aacccaaaga gacctttatc ttctgctaac
721 cagaatttta ataattctga gaccttgggg caccaaggaa gccatgtggt caccctccaa
781 ctgagaatag atggaatgca ttgcatgatc tcccaactgg aaggggtgca gcaaatatcg
841 gtgtctttgg ccgaagggac tgcaacagtt ctttataatc ccgctgtaat tagcccagaa
901 gaactcagag ctgctataga agacatggga tttgaggctt cagtcgtttc tgaaagctgt
961 tctactaacc ctcttggaaa ccacagtgct gggaattcca tggtgcaaac tacagatggt
1021 acacctacat ctctgcagga agtggctccc cacactggga ggctccctgc aaaccatgcc
1081 ccggacatct tggcaaagtc cccacaatca accagagcag tggcaccgca gaagtgcttc
1141 ttacagatca aaggcatgac ctgtgcatcc tgtgtgtcta acatagaaag gaatctgcag
1201 aaagaagctg gtgttctctc cgtgttggtt gccttgatgg caggaaaggc agagatcaag
1261 tatgacccag aggtcatcca gcccctcgag atagctcagt tcatccagga cctgggtttt
1321 gaggcagcag tcatggagga ctacgcaggc tccgatggca acattgagct gacaatcaca
1381 gggatgacct gcgcgtcctg tgtccacaac atagagtcca aactcacgag gacaaatggc
1441 atcacttatg cctccgttgc ccttgccacc agcaaagccc ttgttaagtt tgacccggaa
1501 attatcggtc cacgggatat tatcaaaatt attgaggaaa ttggctttca tgcttccctg
1561 gcccagagaa accccaacgc tcatcacttg gaccacaaga tggaaataaa gcagtggaag
1621 aagtctttcc tgtgcagcct ggtgtttggc atccctgtca tggccttaat gatctatatg
1681 ctgataccca gcaacgagcc ccaccagtcc atggtcctgg accacaacat cattccagga
1741 ctgtccattc taaatctcat cttctttatc ttgtgtacct ttgtccagct cctcggtggg
1801 tggtacttct acgttcaggc ctacaaatct ctgagacaca ggtcagccaa catggacgtg
1861 ctcatcgtcc tggccacaag cattgcttat gtttattctc tggtcatcct ggtggttgct
1921 gtggctgaga aggcggagag gagccctgtg acattcttcg acacgccccc catgctcttt
1981 gtgttcattg ccctgggccg gtggctggaa cacttggcaa agagcaaaac ctcagaagcc
2041 ctggctaaac tcatgtctct ccaagccaca gaagccaccg ttgtgaccct tggtgaggac
2101 aatttaatca tcagggagga gcaagtcccc atggagctgg tgcagcgggg cgatatcgtc
2161 aaggtggtcc ctgggggaaa gtttccagtg gatgggaaag tcctggaagg caataccatg
2221 gctgatgagt ccctcatcac aggagaagcc atgccagtca ctaagaaacc cggaagcact
2281 gtaattgcgg ggtctataaa tgcacatggc tctgtgctca ttaaagctac ccacgtgggc
2341 aatgacacca ctttggctca gattgtgaaa ctggtggaag aggctcagat gtcaaaggca
2401 cccattcagc agctggctga ccggtttagt ggatattttg tcccatttat catcatcatg
2461 tcaactttga cgttggtggt atggattgta atcggtttta tcgattttgg tgttgttcag
2521 aaatactttc ctaaccccaa caagcacatc tcccagacag aggtgatcat ccggtttgct
2581 ttccagacgt ccatcacggt gctgtgcatt gcctgcccct gctccctggg gctggccacg
2641 cccacggctg tcatggtggg caccggggtg gccgcgcaga acggcatcct catcaaggga
2701 ggcaagcccc tggagatggc gcacaagata aagactgtga tgtttgacaa gactggcacc
2761 attacccatg gcgtccccag ggtcatgcgg gtgctcctgc tgggggatgt ggccacactg
2821 cccctcagga aggttctggc tgtggtgggg actgcggagg ccagcagtga acaccccttg
2881 ggcgtggcag tcaccaaata ctgtaaagag gaacttggaa cagagacctt gggatactgc
2941 acggacttcc aggcagtgcc aggctgtgga attgggtgca aagtcagcaa cgtggaaggc
3001 atcctggccc acagtgagcg ccctttgagt gcaccggcca gtcacctgaa tgaggctggc
3061 agccttcccg cagaaaaaga tgcagccccc cagaccttct ctgtgctgat tggaaaccgt
3121 gagtggctga ggcgcaacgg tttaaccatt tctagcgatg tcagtgacgc tatgacagac
3181 cacgagatga aaggacagac agccatcctg gtggctattg acggtgtgct ctgtgggatg
3241 atcgcaatcg cagacgctgt caagcaggag gctgccctgg ctgtgcacac gctgcagagc
3301 atgggtgtgg acgtggttct gatcacgggg gacaaccgga agacagccag agctattgcc
3361 acccaggttg gcatcaacaa agtctttgca gaggtgctgc cttcgcacaa ggtggccaag
3421 gtccaggagc tccagaataa agggaagaaa gtcgccatgg tgggggatgg ggtcaatgac
3481 tccccggcct tggcccaggc agacatgggt gtggccattg gcaccggcac ggatgtggcc
3541 atcgaggcag ccgacgtcgt ccttatcaga aatgatttgc tggatgtggt ggctagcatt
3601 cacctttcca agaggactgt ccgaaggata cgcatcaacc tggtcctggc actgatttat
3661 aacctggttg ggatacccat tgcagcaggt gtcttcatgc ccatcggcat tgtgctgcag
3721 ccctggatgg gctcagcggc catggcagcc tcctctgtgt ctgtggtgct ctcatccctg
3781 cagctcaagt gctataagaa gcctgacctg gagaggtatg aggcacaggc gcatggccac
3841 atgaagcccc tgacggcatc ccaggtcagt gtgcacatag gcatggatga caggtggcgg
3901 gactccccca gggccacacc atgggaccag gtcagctatg tcagccaggt gtcgctgtcc
3961 tccctgacgt ccgacaagcc atctcggcac agcgctgcag cagacgatga tggggacaag
4021 tggtctctgc tcctgaatgg cagggatgag gagcagtaca tctga
//