LOCUS HSU11700 6642 bp mRNA linear HUM 23-MAR-1996 DEFINITION Human copper transporting ATPase mRNA, complete cds. ACCESSION U11700 VERSION U11700.1 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 258) AUTHORS Petrukhin,K., Lutsenko,S., Chernov,I., Ross,B.M., Kaplan,J.H. and Gilliam,T.C. TITLE Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions JOURNAL Hum. Mol. Genet. 3 (9), 1647-1656 (1994) PUBMED 7833924 REFERENCE 2 (bases 259 to 6641) AUTHORS Tanzi,R.E., Petrukhin,K., Chernov,I., Pellequer,J.L., Wasco,W., Ross,B., Romano,D.M., Parano,E., Pavone,L., Brzustowicz,L.M., Devoto,M., Peppercorn,J., Bush,A.I., Sternlieb,I., Pirastu,M., Gusella,J.F., Evgrafov,O., Penchaszadeh,G.K., Honig,B., Edelman,I.S., Soare,M.B., Scheinberg,I.H. and Gilliam,T.C. TITLE The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene JOURNAL Nat. Genet. 5 (4), 344-350 (1993) PUBMED 8298641 REFERENCE 3 (sites) AUTHORS Petrukhin,K., Fischer,S.G., Pirastu,M., Tanzi,R.E., Chernov,I., Devoto,M., Brzustowicz,L.M., Canyanis,E., Vitale,E., Russo,J.J., Matseoane,D., Boukhgalter,B., Wasco,W., Figus,A.L., Loudianos,J., Cao,A., Sternlieb,I., Evgrafov,O., Parano,E., Pavone,L., Warburton,D., Ott,J., Penchaszadeh,G.K., Scheinberg,I.H. and Gilliam,T.C. TITLE Mapping, cloning and genetic characterization of the region containing the Wilson disease gene JOURNAL Nat. Genet. 5 (4), 338-343 (1993) PUBMED 8298640 REFERENCE 4 (bases 1 to 6642) AUTHORS Petrukhin,K. TITLE Direct Submission JOURNAL Submitted (30-JUN-1994) Konstantin Petrukhin, Psychiatry, Columbia University, 722 West 168th Street, New York, NY 10032, USA FEATURES Location/Qualifiers source 1..6642 /db_xref="H-InvDB:HIT000218048" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="13" /map="13q14.3" 5'UTR 1..162 CDS 163..4560 /codon_start=1 /product="copper transporting ATPase" /protein_id="AAA92667.1" /translation="MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGY EGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQDSATVKY VPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSS IEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLS LGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIE ENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGS GTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISV SLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTD GTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIER NLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNI ELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEE IGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSM VLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIA YVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSL QATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESL ITGEAMPVTKKPGSTVIARSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQ QLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQKYFPNPNKHISQTEVIIRFAF QTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTG TITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETL GYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSV LIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAAL AVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKV AMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKK PDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSD KPSRHSAAADDDGDKWSLLLNGRDEEQYI" 3'UTR 4561..6642 polyA_site 6642 /note="12 A nucleotides" BASE COUNT 1539 a 1710 c 1745 g 1648 t ORIGIN 1 ttcccggacc cctgtttgct ttagagccga gccgcgccgc gccgatgccc tcacactctg 61 cgcctcctct cccgggactt taacaccacg ctctcctcca ccgaccaggt gaccttttgc 121 tctgagccag atcagagaag aattcggtgt ccgtgcggga cgatgcctga gcaggagaga 181 cagatcacag ccagagaagg ggccagtcgg aaaatcttat ctaagctttc tttgcctacc 241 cgtgcctggg aaccagcaat gaagaagagt tttgcttttg acaatgttgg ctatgaaggt 301 ggtctggatg gcctgggccc ttcttctcag gtggccacca gcacagtcag gatcttgggc 361 atgacttgcc agtcatgtgt gaagtccatt gaggacagga tttccaattt gaaaggcatc 421 atcagcatga aggtttccct ggaacaagac agtgccactg tgaaatatgt gccatcggtt 481 gtgtgcctgc aacaggtttg ccatcaaatt ggggacatgg gcttcgaggc cagcattgca 541 gaaggaaagg cagcctcctg gccctcaagg tccttgcctg cccaggaggc tgtggtcaag 601 ctccgggtgg agggcatgac ctgccagtcc tgtgtcagct ccattgaagg caaggtccgg 661 aaactgcaag gagtagtgag agtcaaagtc tcactcagca accaagaggc cgtcatcact 721 tatcagcctt atctcattca gcccgaagac ctcagggacc atgtaaatga catgggattt 781 gaagctgcca tcaagagcaa agtggctccc ttaagcctgg gaccaattga tattgagcgg 841 ttacaaagca ctaacccaaa gagaccttta tcttctgcta accagaattt taataattct 901 gagaccttgg ggcaccaagg aagccatgtg gtcaccctcc aactgagaat agatggaatg 961 cattgtaagt cttgcgtctt gaatattgaa gaaaatattg gccagctcct aggggttcaa 1021 agtattcaag tgtccttgga gaacaaaact gcccaagtaa agtatgaccc ttcttgtacc 1081 agcccagtgg ctctgcagag ggctatcgag gcacttccac ctgggaattt taaagtttct 1141 cttcctgatg gagccgaagg gagtgggaca gatcacaggt cttccagttc tcattcccct 1201 ggctccccac cgagaaacca ggtccagggc acatgcagta ccactctgat tgccattgcc 1261 ggcatgacct gtgcatcctg tgtccattcc attgaaggca tgatctccca actggaaggg 1321 gtgcagcaaa tatcggtgtc tttggccgaa gggactgcaa cagttcttta taatccctct 1381 gtaattagcc cagaagaact cagagctgct atagaagaca tgggatttga ggcttcagtc 1441 gtttctgaaa gctgttctac taaccctctt ggaaaccaca gtgctgggaa ttccatggtg 1501 caaactacag atggtacacc tacatctgtg caggaagtgg ctccccacac tgggaggctc 1561 cctgcaaacc atgccccgga catcttggca aagtccccac aatcaaccag agcagtggca 1621 ccgcagaagt gcttcttaca gatcaaaggc atgacctgtg catcctgtgt gtctaacata 1681 gaaaggaatc tgcagaaaga agctggtgtt ctctccgtgt tggttgcctt gatggcagga 1741 aaggcagaga tcaagtatga cccagaggtc atccagcccc tcgagatagc tcagttcatc 1801 caggacctgg gttttgaggc agcagtcatg gaggactacg caggctccga tggcaacatt 1861 gagctgacaa tcacagggat gacctgcgcg tcctgtgtcc acaacataga gtccaaactc 1921 acgaggacaa atggcatcac ttatgcctcc gttgcccttg ccaccagcaa agcccttgtt 1981 aagtttgacc cggaaattat cggtccacgg gatattatca aaattattga ggaaattggc 2041 tttcatgctt ccctggccca gagaaacccc aacgctcatc acttggacca caagatggaa 2101 ataaagcagt ggaagaagtc tttcctgtgc agcctggtgt ttggcatccc tgtcatggcc 2161 ttaatgatct atatgctgat acccagcaac gagccccacc agtccatggt cctggaccac 2221 aacatcattc caggactgtc cattctaaat ctcatcttct ttatcttgtg tacctttgtc 2281 cagctcctcg gtgggtggta cttctacgtt caggcctaca aatctctgag acacaggtca 2341 gccaacatgg acgtgctcat cgtcctggcc acaagcattg cttatgttta ttctctggtc 2401 atcctggtgg ttgctgtggc tgagaaggcg gagaggagcc ctgtgacatt cttcgacacg 2461 ccccccatgc tctttgtgtt cattgccctg ggccggtggc tggaacactt ggcaaagagc 2521 aaaacctcag aagccctggc taaactcatg tctctccaag ccacagaagc caccgttgtg 2581 acccttggtg aggacaattt aatcatcagg gaggagcaag tccccatgga gctggtgcag 2641 cggggcgata tcgtcaaggt ggtccctggg ggaaagtttc cagtggatgg gaaagtcctg 2701 gaaggcaata ccatggctga tgagtccctc atcacaggag aagccatgcc agtcactaag 2761 aaacccggaa gcactgtaat tgcgaggtct ataaatgcac atggctctgt gctcattaaa 2821 gctacccacg tgggcaatga caccactttg gctcagattg tgaaactggt ggaagaggct 2881 cagatgtcaa aggcacccat tcagcagctg gctgaccggt ttagtggata ttttgtccca 2941 tttatcatca tcatgtcaac tttgacgttg gtggtatgga ttgtaatcgg ttttatcgat 3001 tttggtgttg ttcagaaata ctttcctaac cccaacaagc acatctccca gacagaggtg 3061 atcatccggt ttgctttcca gacgtccatc acggtgctgt gcattgcctg cccctgctcc 3121 ctggggctgg ccacgcccac ggctgtcatg gtgggcaccg gggtggccgc gcagaacggc 3181 atcctcatca agggaggcaa gcccctggag atggcgcaca agataaagac tgtgatgttt 3241 gacaagactg gcaccattac ccatggcgtc cccagggtca tgcgggtgct cctgctgggg 3301 gatgtggcca cactgcccct caggaaggtt ctggctgtgg tggggactgc ggaggccagc 3361 agtgaacacc ccttgggcgt ggcagtcacc aaatactgta aagaggaact tggaacagag 3421 accttgggat actgcacgga cttccaggca gtgccaggct gtggaattgg gtgcaaagtc 3481 agcaacgtgg aaggcatcct ggcccacagt gagcgccctt tgagtgcacc ggccagtcac 3541 ctgaatgagg ctggcagcct tcccgcagaa aaagatgcag tcccccagac cttctctgtg 3601 ctgattggaa accgtgagtg gctgaggcgc aacggtttaa ccatttctag cgatgtcagc 3661 gacgctatga cagaccacga gatgaaagga cagacagcca tcctggtggc tattgacggt 3721 gtgctctgtg ggatgatcgc aatcgcagac gctgtcaagc aggaggctgc cctggctgtg 3781 cacacgctgc agagcatggg tgtggacgtg gttctgatca cgggggacaa ccggaagaca 3841 gccagagcta ttgccaccca ggttggcatc aacaaagtct ttgcagaggt gctgccttcg 3901 cacaaggtgg ccaaggtcca ggagctccag aataaaggga agaaagtcgc catggtgggg 3961 gatggggtca atgactcccc ggccttggcc caggcagaca tgggtgtggc cattggcacc 4021 ggcacggatg tggccatcga ggcagccgac gtcgtcctta tcagaaatga tttgctggat 4081 gtggtggcta gcattcacct ttccaagagg actgtccgaa ggatacgcat caacctggtc 4141 ctggcactga tttataacct ggttgggata cccattgcag caggtgtctt catgcccatc 4201 ggcattgtgc tgcagccctg gatgggctca gcggccatgg cagcctcctc tgtgtctgtg 4261 gtgctctcat ccctgcagct caagtgctat aagaagcctg acctggagag gtatgaggca 4321 caggcgcatg gccacatgaa gcccctgacg gcatcccagg tcagtgtgca cataggcatg 4381 gatgacaggt ggcgggactc ccccagggcc acaccatggg accaggtcag ctatgtcagc 4441 caggtgtcgc tgtcctccct gacgtccgac aagccatctc ggcacagcgc tgcagcagac 4501 gatgatgggg acaagtggtc tctgctcctg aatggcaggg atgaggagca gtacatctga 4561 tgacttcagg caggcggccc ggggcaggga cttgcctcca ctcaccacaa gctgagcagg 4621 acagccagca gcaggatggg ctgagctagc ctccagcttt ggggacttcc gctccctgga 4681 tatgtccagt catcctgccc tgcagcacgc ggccttgtct gggtgcagct gggcttggcc 4741 tggagaggac ggccctgcct gcctcttggc ctcacgggac cgtcagcatg ggctttgtct 4801 tggactctag tccttggctg gactgtagaa ggtgagaggc gagtcaccct cctcacagac 4861 ctctgcttgg agtatttagg atgactgctg tgaaatggag aacagtttca tcaggaccaa 4921 aaaacctcac tgggcctttc cagagaactg cagacctcac tgtcagggtc tttctgatga 4981 cgcctgtctg tgtgcatcat gtttctgaga ccacagttta cctcaggtgt gcctgttgct 5041 ttcttcctgc atagtctgtt cctttcttcg tacatagtct gttccttttc tctcctgtgt 5101 gcttgtcagt ggggacccct cgcaaccctg cctgtcacct gggagggtgg gaccaatgtc 5161 cttgtggtct ttgctgctgc tctcaggcgc ttctccaatg ctctggagtg tgcatttcag 5221 cttgaacctg cttcctggct cacacatccc cagccaggga gcttgccaca ctcttcttca 5281 agttgaggag agttcttttt tgcttaaagc ccccttctcc atggagtgtt ggcttctcaa 5341 tagagtgttg ttgctgacca gctggagtga gggcctcaga gcctgacctg agagtccgta 5401 ctcggcttcc tgtggggtgt aggttctcgc gattcaggac gtccttccat atccctgccc 5461 agcctgtggt gcttgaaacg tttgccccat gggaaacgta tgtgtgcagg agcctccctg 5521 cacggcccaa ggggcttcgt tttcagtctt ctgactgtca cctcgtgggg ttcagtagag 5581 aattcaatta ctagcgcctg gccttgtgtg gcttggagga aatggtactg cccaaatagg 5641 aggaaaacac agcctccctg agcctgcatt ctgcacgctg cccaggggct tcagaaaagg 5701 agtggccaca gcaccccgaa gggagcatct atttacctgg cagtggctct cagagcagca 5761 gaacgggttc agttttagac tctgaagttg gttgtgattg acagaaccct ttgggagcaa 5821 actagtagag ttggattaaa ttctgggtga aacccttttc tcccacacaa aatagtttta 5881 gtgatttttt tcattgtcca ttacttgcca ggggcagttt tagcagcact tttgatagat 5941 tacgtctaat cctcccaacc aaccagcagg gtagctatta ctgtccacat tttacaggca 6001 aggaaacagg ctccaagagg ctgaggactt tgcccaggat gacatagcca atggacaagc 6061 agtgtctgtc agctgtgaag gcttcactct tattgtcctt ctaccttgaa tagaagtttt 6121 cctgataaga ataaacgagg aaaaggtcct tgcctcctgg aagaacaaat ctaccaggtg 6181 atctattcat tgtttcaact cagaatgcac ttgattcagg aggtcatctg accttcacct 6241 tggatggtta gtttcacttt ttacatatag tttttgcagg gttttatttt ataaaatcca 6301 agcgcgctgt tgattgtgtt ttccttgttt tcagcccccc gactccagcc cgcagcacat 6361 ttccgctgtc cgtcagtaat tgtgtcctct ctttatgctt gcttggggaa tgttgttttc 6421 tgactaggct gatcattatc taaagaatct aattctgttg atttttaaaa cttttaggac 6481 cataaacgtt gtgttcatat atggacatgg aaatatttat ataattttat agaaaataac 6541 cttttagatg gtcaaagtgt aaggagtttt tttgtcagat aatcatttct acttcaaaaa 6601 catttcatgc aatattagaa taaagttcct gtcattcctc ta //