LOCUS Atp7a 4575 bp mRNA linear ROD 19-SEP-2002 DEFINITION Mus musculus ATPase, Cu++ transporting, alpha polypeptide (Atp7a), mRNA. ACCESSION NM_009726 VERSION NM_009726.1 GI:16945959 KEYWORDS . SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Rodentia; Sciurognathi; Muridae; Murinae; Mus. REFERENCE 1 (bases 1 to 4575) AUTHORS Vulpe,C., Levinson,B., Whitney,S., Packman,S. and Gitschier,J. TITLE Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase JOURNAL Nat. Genet. 3 (1), 7-13 (1993) MEDLINE 93258410 PUBMED 8490659 REFERENCE 2 (bases 1 to 4575) AUTHORS Levinson,B., Vulpe,C., Elder,B., Martin,C., Verley,F., Packman,S. and Gitschier,J. TITLE The mottled gene is the mouse homologue of the Menkes disease gene JOURNAL Nat. Genet. 6 (4), 369-373 (1994) MEDLINE 94332144 PUBMED 8054976 REFERENCE 3 (bases 1 to 4575) AUTHORS Mercer,J.F., Grimes,A., Ambrosini,L., Lockhart,P., Paynter,J.A., Dierick,H. and Glover,T.W. TITLE Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice JOURNAL Nat. Genet. 6 (4), 374-378 (1994) MEDLINE 94332145 PUBMED 8054977 REFERENCE 4 (bases 1 to 4575) AUTHORS Levinson,B., Packman,S. and Gitschier,J. TITLE Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse JOURNAL Nat. Genet. 16 (3), 224-225 (1997) MEDLINE 97351503 PUBMED 9207785 REFERENCE 5 (bases 1 to 4575) AUTHORS Grimes,A., Hearn,C.J., Lockhart,P., Newgreen,D.F. and Mercer,J.F. TITLE Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease JOURNAL Hum. Mol. Genet. 6 (7), 1037-1042 (1997) MEDLINE 97358576 PUBMED 9215672 REFERENCE 6 (sites) AUTHORS Ohta,Y., Shiraishi,N. and Nishikimi,M. TITLE Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model JOURNAL Unpublished (1997) COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AB007134.1. FEATURES Location/Qualifiers source 1..4575 /organism="Mus musculus" /strain="C3H" /db_xref="taxon:10090" /chromosome="X" /map="X 44.0 cM" /tissue_type="placenta" /dev_stage="18 days gestation" gene 1..4575 /gene="Atp7a" /note="synonyms: I14, MNK, blotchy, mottled, DXHXS1608e" /db_xref="LocusID:11977" /db_xref="MGI:99400" CDS 14..4489 /gene="Atp7a" /note="Menkes protein; DNA segment, Chr X, 1608 expressed" /codon_start=1 /product="ATPase, Cu++ transporting, alpha polypeptide" /protein_id="NP_033856.1" /db_xref="GI:16945960" /db_xref="LocusID:11977" /db_xref="MGI:99400" /translation="MEPSVDANSITITVEGMTCISCVRTIEQQIGKVNGVHHIKVSLE EKSATIIYDPKLQTPKTLQEAIDDMGFDALLHNANPLPVLTNTVFLTVTAPLTLPWDH IQSTLLKTKGVTGVKISPQQRSAVVTIIPSVVSASQIVELVPDLSLDMGTQEKKSGAC EEHSTPQAGEVMLKMKVEGMTCHSCTSTIEGKVGKLQGVQRIKVSLDNQEATIVFQPH LITAEEIKKQIEAVGFPAFIKKQPKYLKLGAIDVERLKNTPVKSSEGSQQKSPSYPSD STTMFTIEGMHCKSCVSNIESALSTLQYVSSIVVSLENRSAIVKYNASLVTPEMLRKA IEAISPGQYRVSIASEVESTASSPSSSSLQKMPLNIVSQPLTQEAVININGMTCNSCV QSIEGVISKKPGVKSIHVSLANSTGTIEFDPLLTSPETLREAIEDMGFDAALPDMKEP LVVIAQPSLETPLLPSSNEPENVMTSVQNKCYIQVSGMTCASCVANIERNLRREEGIY SVLVALMAGKAEVRYNPAVIQPRVIAEFIRELGFGAMVMENAGEGNGILELVVRGMTC ASCVHKIESTLTKHKGIFYCSVALATNKAHIKYDPEIIGPRDIIHTIGSLGFEASLVK KDRSANHLDHKREIKQWRGSFLVSLFFCIPVMGLMVYMMVMDHHLATLHHNQNMSNEE MINMHSAMFLERQILPGLSIMNLLSLLLCLPVQFCGGWYFYIQAYKALKHKTANMDVL IVLATTIAFAYSLVILLVAMFERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSE ALAKLISLQATEATIVTLNSENLLLSEEQVDVELVQRGDIIKVVPGGKFPVDGRVIEG HSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSLLIRATHVGADTTLSQIVKLVEEA QTSKAPIQQFADKLSGYFVPFIVLVSIVTLLVWIIIGFQNFEIVETYFPGYNRSISRT ETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVK VVVFDKTGTITHGTPVVNQVKVLVESNKISRNKILAIVGTAESNSEHPLGAAVTKYCK KELDTETLGTCTDFQVVPGCGISCKVTNIEGLLHKSNLKIEENNIKNASLVQIDAINE QSSTSSSMIIDAHLSNAVNTQQYKVLIGNREWMIRNGLVISNDVDESMIEHERRGRTA VLVTIDDELCGLIAIADTVKPEAELAVHILKSMGLEVVLMTGDNSKTARSIASQVGIT KVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAA DVVLIRNDLLDVVASIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFLPIGLVLQPW MGSAAMAASSVSVVLSSLFLKLYRKPTYDNYELHPRSHTGQRSPSEISVHVGIDDTSR NSPRLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTTL" misc_feature 41..238 /gene="Atp7a" /note="HMA; Region: Heavy-metal-associated domain" /db_xref="CDD:pfam00403" misc_feature 530..727 /gene="Atp7a" /note="HMA; Region: Heavy-metal-associated domain" /db_xref="CDD:pfam00403" misc_feature 848..1024 /gene="Atp7a" /note="HMA; Region: Heavy-metal-associated domain" /db_xref="CDD:pfam00403" misc_feature 1151..1345 /gene="Atp7a" /note="HMA; Region: Heavy-metal-associated domain" /db_xref="CDD:pfam00403" misc_feature 1460..1645 /gene="Atp7a" /note="HMA; Region: Heavy-metal-associated domain" /db_xref="CDD:pfam00403" misc_feature 1682..1879 /gene="Atp7a" /note="HMA; Region: Heavy-metal-associated domain" /db_xref="CDD:pfam00403" misc_feature 2342..3088 /gene="Atp7a" /note="E1-E2_ATPase; Region: E1-E2 ATPase" /db_xref="CDD:pfam00122" misc_feature 3584..3952 /gene="Atp7a" /note="Hydrolase; Region: haloacid dehalogenase-like hydrolase. This family are structurally different from the alpha/ beta hydrolase family (pfam00561). This family includes L-2-haloacid dehalogenase, epoxide hydrolases and phosphatases. The structure of the family consists of two domains. One is an inserted four helix bundle, which is the least well conserved region of the alignment. The rest of the fold is composed of the core alpha/beta domain" /db_xref="CDD:pfam00702" variation 2034 /gene="Atp7a" /note="The macular mouse, a Menkes disease model, has this mutation." /replace="g" variation 4154 /gene="Atp7a" /note="The macular mouse, a Menkes disease model, has this mutation." /replace="c" BASE COUNT 1327 a 977 c 1054 g 1217 t ORIGIN 1 taaagacatc aaaatggagc caagtgtgga tgcaaattca attactatca ctgttgaggg 61 aatgacatgt atttcctgtg tccggaccat tgaacagcag attgggaaag tgaatggtgt 121 ccatcacatt aaagtttcac tagaagaaaa gagtgcaacc attatttatg accctaaact 181 tcagactcca aagaccctcc aagaagctat cgatgacatg ggctttgatg ctcttctcca 241 caatgctaac cccctccctg tcttaaccaa taccgtgttc ctgactgtta ctgctccact 301 gactctgcct tgggaccata tccaaagtac attgctcaag accaagggtg tgactggtgt 361 taagatttcc cctcagcaaa gaagtgcagt agtcaccata attccatctg tggtgagtgc 421 cagtcagatt gtggagctgg tcccagacct cagtttagac atgggaactc aggagaaaaa 481 gtcaggagct tgtgaagagc acagcacgcc tcaggcaggg gaagtcatgc tgaagatgaa 541 agtggaaggg atgacctgcc attcatgtac tagcaccatt gaaggaaaag ttggaaagct 601 gcaaggtgtt cagcgcatta aagtgtccct agacaaccaa gaagctacta ttgtttttca 661 acctcatctc atcacagcag aggaaataaa gaagcagatt gaagccgtgg gtttcccagc 721 cttcataaaa aagcagccga agtacctcaa attgggagcc attgatgttg agcgcctgaa 781 gaacacaccg gtcaaatctt cagaaggatc tcagcaaaag agcccatcat atcccagtga 841 ctccacaacc atgttcacca tagagggcat gcattgtaaa tcgtgtgtgt ccaatattga 901 aagtgcttta tctacactcc agtatgtaag cagtatagta gtttctttag agaataggtc 961 agccattgta aagtacaatg caagcttagt cactccagaa atgctgagaa aggcaataga 1021 ggccatttca ccggggcaat acagagttag tattgcaagt gaagttgaaa gtaccgccag 1081 ctctccctcc agctcatctc ttcagaagat gcctttgaac atagttagcc agcctctgac 1141 ccaagaagct gtgataaaca taaatggcat gacttgtaat tcttgtgtgc agtctataga 1201 gggtgtaata tcaaaaaagc caggtgtaaa atccatccac gtgtccctcg caaacagcac 1261 agggactatt gaatttgatc ctctactaac ctctccagaa accttgcgag aagcaattga 1321 agacatggga tttgatgctg ccttgccaga catgaaagag ccactggtag tgatagctca 1381 gccctcactg gaaacacctc ttttgccctc aagtaatgag ccagaaaatg tgatgacgtc 1441 agttcagaac aagtgttaca tacaggtctc tgggatgacc tgtgcttctt gtgtagcaaa 1501 cattgaacgc aatttaagac gagaagaagg aatatattct gtacttgttg ccctaatggc 1561 tggcaaggca gaagtaagat ataacccagc tgttatccaa ccccgagtga tagcagagtt 1621 tattcgagag cttggatttg gagctatggt gatggaaaac gctggggaag gcaacggcat 1681 cttggaactt gttgtgagag gaatgacgtg tgcttcctgt gtccataaaa ttgaatcaac 1741 actcacaaaa cacaaaggga tcttctactg ctctgtggcc ctggcaacta acaaagcaca 1801 tattaaatat gatccagaaa ttattggtcc cagagatatt atccatacca tcggaagctt 1861 aggctttgaa gcttctttgg tcaagaaaga tcgatcagcc aaccacttag atcataaacg 1921 agaaataaaa caatggagag ggtctttcct tgtgagcctg tttttctgta tccctgtaat 1981 gggactgatg gtctatatga tggttatgga tcaccacctt gcaactcttc accataatca 2041 gaacatgagt aatgaagaaa tgatcaacat gcattctgct atgtttctgg agcgtcagat 2101 cctgccagga ctgtccatta tgaatttgtt gtccctttta ttgtgtctac ctgtacagtt 2161 ttgtggcggc tggtacttct acattcaggc ttacaaagca ctgaagcata agacagcaaa 2221 catggatgtg ctgattgtgc tggcaaccac catcgcattt gcctactctc tggttattct 2281 tctggttgca atgtttgaga gagccaaagt gaaccccatt accttctttg atacacctcc 2341 tatgctgttt gtgtttatcg cactaggacg atggctggaa catatagcga agggcaaaac 2401 ctccgaggct cttgcaaagc taatttcatt acaagcaact gaagccacta ttgtaactct 2461 gaactctgaa aatctcctcc tgagtgaaga acaagtggat gtggaacttg tacaacgtgg 2521 agatatcatt aaggttgttc caggaggcaa atttccagtg gatggccgtg ttattgaagg 2581 acattctatg gtggacgagt ccctcatcac aggggaggca atgcctgtgg ctaagaaacc 2641 tggcagcacg gtgattgcag gttccattaa ccagaatgga tctctcctca tccgagcaac 2701 acatgtggga gcagatacaa ccctttctca gatcgtcaaa cttgtggagg aggcacagac 2761 atcaaaggct cctatccagc agtttgcaga caaactcagt ggctactttg ttcctttcat 2821 cgtcttggtt tccattgtta ccctcttggt gtggattata attggatttc aaaattttga 2881 aattgtggaa acctactttc ccggctataa tagaagcatc tcccgaacag aaaccataat 2941 acgctttgct ttccaagcct ctatcacggt tctgtgtatc gcatgtccct gttcactggg 3001 actagccact ccaactgctg tgatggtggg cacaggagta ggtgctcaga atggcatact 3061 tatcaaaggt ggggagccac tggaaatggc tcataaggta aaggtagtgg tatttgataa 3121 gactggaacc atcacccatg gaaccccagt agtgaatcaa gtgaaggttc tcgtggaaag 3181 taacaagata tcacgcaata agatcctggc cattgtgggg actgcagaaa gtaacagtga 3241 acatccttta ggagcagctg taaccaaata ttgcaaaaag gagctggaca ctgaaaccct 3301 gggtacctgt acagatttcc aggttgtacc aggctgtggt attagctgta aagtcaccaa 3361 tattgaaggt ttgctacata agagtaactt gaagatagaa gaaaataaca ttaaaaatgc 3421 atccctggtt caaattgatg caattaatga acagtcatca acttcatctt ctatgatcat 3481 tgatgctcat ctctcaaatg ctgttaatac tcagcagtac aaagtcctca ttggtaaccg 3541 ggaatggatg attagaaatg gtcttgtcat aagtaatgat gtagatgaat ctatgattga 3601 acatgaaaga agaggtcgga ctgctgtctt ggtgacaatc gatgatgagc tgtgtggctt 3661 gattgctatt gctgatactg tgaaacctga ggccgagttg gctgtacaca ttctgaaatc 3721 tatgggttta gaagtagttc tgatgactgg agacaacagt aaaactgctc ggtctattgc 3781 ttctcaggtt ggcattacta aggtgtttgc tgaagttcta ccttcccaca aagttgctaa 3841 ggtgaagcag ctccaagagg agggcaaacg tgtagcaatg gtaggagatg gaatcaatga 3901 ctccccagct ctggcaatgg caaacgttgg aattgccata ggcacaggca cagatgtagc 3961 cattgaagca gctgatgtgg ttttgataag gaatgacctt ctggatgttg tggcaagtat 4021 tgacttgtca aggaaaacag tcaagaggat tcgaatcaat tttgtctttg ctctaattta 4081 taatctggtt ggaattccca tcgctgctgg agttttcctg cccatcggtt tggttttaca 4141 accctggatg ggatccgcag caatggccgc ttcatctgtc tctgtagtcc tttcttccct 4201 tttcctcaag ctttacagga aacctacgta tgacaattat gagttgcatc cccggagcca 4261 cacaggacag aggagtcctt cagaaatcag tgttcacgtt ggaatagatg acacctcaag 4321 aaattctcca aggctgggtt tgctggaccg gattgtcaac tatagcagag cctccataaa 4381 ttcactgctg tctgacaagc gctccctgaa cagcgttgtt actagtgaac ctgacaagca 4441 ctcgcttctg gtgggcgact tccgggaaga tgatgacacc acactgtaaa aagccttggg 4501 ggatgctgct agttaaagtt cacgtgcact gacacagcac ttacgttgat gtagaaggat 4561 cttatgtcaa tctca //