LOCUS AY823162 3591 bp mRNA linear HUM 01-JUL-2005 DEFINITION Homo sapiens cation-transporting P5-ATPase (ATP13A4) mRNA, complete cds. ACCESSION AY823162 VERSION AY823162.1 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 3591) AUTHORS Kwasnicka-Crawford,D.A., Carson,A.R., Roberts,W., Summers,A.M., Rehnstrom,K., Jarvela,I. and Scherer,S.W. TITLE Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay JOURNAL Genomics 86 (2), 182-194 (2005) PUBMED 15925480 REFERENCE 2 (bases 1 to 3591) AUTHORS Kwasnicka-Crawford,D.A., Carson,A.R. and Scherer,S.W. TITLE Direct Submission JOURNAL Submitted (10-NOV-2004) Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G-1X8, Canada FEATURES Location/Qualifiers source 1..3591 /db_xref="H-InvDB:HIT000332386" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q29" gene 1..3591 /gene="ATP13A4" CDS 1..3591 /gene="ATP13A4" /note="P-type ATPase" /codon_start=1 /product="cation-transporting P5-ATPase" /protein_id="AAX24102.1" /translation="MGHFEKGQHALLNEGEENEMEIFGYRTQGCRKSLCLAGSIFSFG ILPLVFYWRPAWHVWAHCVPCSLQEADTVLLRTTDEFQIYSWKKVIWIYLSALNSAFG LTPDHPLMTDEEYIINRAIRKPDLKVRCIKVQKIRYVWNYLEGQFQKIGSLEDWLSSA KIHQKFGSGLTREEQEIRRLICGPNTIDVEVTPIWKLLIKEVLNPFYIFQLFSVCLWF SEDYKEYAFAIIIMSIISISLTVYDLREQSVKLHHLVESHNSITVSVCGRKAGVQELE SRVLVPGDLLILTGNKVLMPCDAVLIEGSCVVDEGMLTGESIPVTKTPLPKMDSSVPW KTQSEADYKRHVLFCGTEVIQAKAACSGTVRAVVLQTGFNTAKGDLVRSILYPKPVNF QLYRDAIRFLLCLVGTATIGMIYTLCVYVLSGEPPEEVVRKALDVITIAVPPALPAAL TTGIIYAQRRLKKRGIFCISPQRINVCGQLNLVCFDKTGTLTRDGLDLWGVVSCDRNG FQEVHSFASGQALPWGPLCAAMASCHSLILLDGTIQGDPLDLKMFEATTWEMAFSGDD FHIKGVPAHAMVVKPCRTASQVPVEGIAILHQFPFSSALQRMTVIVQEMGGDRLAFMK GAPERVASFCQPETVPTSFVSELQIYTTQGFRVIALAYKKLENDHHATTLTRETVESD LIFLGLLILENRLKEETKPVLEELISARIRTVMITGDNLQTAITVARKSGMVSESQKV ILIEANETTGSSSASISWTLVEEKKHIMYGNQDNYINIRDEVSDKGREGSYHFALTGK SFHVISQHFSSLLPKILINGTIFARMSPGQKSSLVEEFQKLDYFVGMCGDGANDCGAL KMAHVGISLSEQEASVASPFTSKTPNIECVPHLIKEGRAALVTSFCMFKYMALYSMIQ YVGVLLLYWETNSLSNYQFLFQDLAITTLIGVTMNLNGAYPKLVPFRPAGRLISPPLL LSAIFNILLSLAMHIAGFILVQRQPWYSVEIHSACTVQNESISELTMSPTAPEKMESN STFTSFENTTVWFLGTINCITVALVFSKGKPFRQPTYTNYIFVLVLIIQLGVCLFILF ADIPELYRRLDLLCTPVLWRASIVIMLSLNFIVSLVAEEAVIENRALWMMIKRCFGYQ SKSQYRIWQRDLANDPSWPPLNQTSHSDMPECGRGVSYSNPVFESNEEQL" BASE COUNT 983 a 797 c 869 g 942 t ORIGIN 1 atgggacact ttgagaaggg ccagcacgct ctgctcaatg aaggagaaga gaatgagatg 61 gagatatttg gctatcggac tcaaggctgc cggaaaagtc tctgccttgc cggatccatc 121 ttctcatttg gaatcctccc cttggtgttt tactggagac cagcatggca cgtatgggca 181 cattgtgtcc catgttcctt gcaagaagca gacactgtgt tgctgaggac aacggatgaa 241 ttccaaattt actcttggaa aaaggtaata tggatctacc tgtcagcatt aaacagcgca 301 tttggtctca ctcctgacca ccctctcatg acagatgagg agtatatcat aaatagagcc 361 ataagaaagc cagacctaaa ggtgagatgc atcaaagtgc agaaaataag atatgtttgg 421 aactacttag aaggacagtt ccagaaaatt ggttctttgg aagactggct tagttctgcc 481 aagatacatc aaaaatttgg atcaggcttg acaagagaag aacaggagat taggaggtta 541 atatgtgggc ctaatactat cgatgttgaa gttacaccaa tttggaaact gctcatcaag 601 gaggttctaa atccatttta tatatttcaa ctcttcagtg tctgtttgtg gtttagtgaa 661 gactataagg aatatgcttt tgccatcata atcatgtcca taatttccat atctttgaca 721 gtatatgatc tcagagagca atctgtaaaa ctccaccatc tcgtcgagtc acataatagc 781 attacggtct ctgtatgtgg gagaaaagct ggagttcagg agctggaatc acgcgtcctg 841 gtgcctggag atttattaat tttgacaggg aacaaagtgc taatgccatg tgatgccgtt 901 ctgattgaag gcagctgtgt ggtggatgaa ggcatgctga caggagaaag tattccagtc 961 accaaaactc cgttacccaa gatggatagc tctgtgccct ggaaaacaca gagtgaagcg 1021 gattacaagc ggcatgtcct cttctgtgga acagaggtta tccaggccaa ggcagcttgc 1081 tctgggaccg tgagagccgt ggtactgcag actggattca acactgcaaa gggagacctt 1141 gtgagatcca ttctctaccc taagccagtg aattttcagt tgtacaggga tgccatcagg 1201 ttcctcctgt gccttgtagg aacagccacc attgggatga tctatactct gtgtgtctat 1261 gtgcttagtg gggaacctcc agaggaggtg gtgaggaaag cccttgacgt catcacaatt 1321 gcggttcctc cggctctacc tgctgctctg accacaggca ttatctatgc ccagaggagg 1381 ctgaagaaga gaggcatctt ctgcattagc ccccagagga tcaacgtatg tggacagtta 1441 aaccttgtct gctttgacaa gacaggcacc ttaacaaggg acggcttgga cctctgggga 1501 gtcgtgtcct gtgataggaa tggctttcag gaagttcaca gctttgcctc aggccaggct 1561 ttgccatggg gcccactgtg tgcagcgatg gccagctgcc actctctgat ccttcttgat 1621 gggaccatcc agggagaccc tctggacctc aaaatgtttg aagccaccac ctgggaaatg 1681 gctttttctg gggacgattt ccacatcaag ggagtgccgg cacatgccat ggtagttaag 1741 ccctgcagaa cagccagcca ggtcccagtg gaaggaattg caatcctgca tcagttccca 1801 ttctcatcgg cactgcaaag aatgacagtc attgtccaag agatgggagg tgaccgactg 1861 gcattcatga aaggtgcacc agagagggtg gccagctttt gccaacctga gacagtaccc 1921 actagttttg ttagcgaact tcagatttac acgacacagg gcttccgagt catagcactg 1981 gcctacaaga agctggaaaa tgaccatcac gctactacct tgacgaggga gacggtagaa 2041 tcagacctga tatttctggg gctgctgatc ttggagaatc gattgaagga agagacaaaa 2101 cctgtcttgg aagagctcat ctcagcccgg ataaggactg taatgatcac aggtgacaat 2161 cttcagactg caataacagt ggccagaaaa tctggaatgg tttctgaaag ccagaaagtc 2221 attctcattg aggcaaatga aaccaccggg tcctcatcag catctatatc ttggacgtta 2281 gtagaagaga agaaacacat tatgtatggg aatcaggaca attacattaa catcagggat 2341 gaagtctctg ataaaggcag agaaggaagt taccattttg ccctaactgg aaaatccttt 2401 catgttataa gtcaacattt cagcagccta ctgccaaaga tattgatcaa tgggaccatc 2461 tttgcaagaa tgtctcctgg gcagaagtcc agtctggtgg aagaatttca gaaactggat 2521 tactttgtag gtatgtgtgg tgatggagcc aatgactgtg gggctctgaa aatggctcat 2581 gtgggcatct cattatcaga gcaggaggca tctgtggcct cacctttcac ttccaaaact 2641 ccaaacattg agtgcgtacc tcaccttatc aaggaaggac gtgcagctct cgttacctcc 2701 ttttgcatgt ttaagtacat ggctctgtac agcatgattc agtatgttgg tgttctgctg 2761 ctctactggg agacaaacag cctttcaaat taccagtttc tgttccagga tctggccatt 2821 acaactctta ttggtgtaac aatgaatctg aatggtgcct accctaagct ggtgcctttc 2881 agacctgcag gacggctgat ctctccacct ctgctactct ctgcgatttt caacattctt 2941 ctcagcctgg ccatgcatat tgcaggcttc atcctggttc agaggcagcc ttggtattcc 3001 gtggagatac acagtgcctg cacagtacaa aatgaaagca tctcagagtt aaccatgtct 3061 ccaactgctc cagaaaaaat ggaaagtaat agcaccttca caagttttga gaacactaca 3121 gtctggttct tgggaacaat caactgtatc actgtggctc ttgtgttctc taaaggaaaa 3181 ccatttagac agccaactta tacaaactat atatttgtcc ttgtgctgat aatacagctt 3241 ggtgtatgtc tattcattct atttgctgat ataccagaat tatatagacg tttggatctg 3301 ctctgcactc ccgtcctgtg gagggcctcc attgtcatca tgctcagctt gaatttcatt 3361 gtgtcccttg tggccgagga ggctgttatt gaaaatcgag ccctgtggat gatgattaaa 3421 agatgtttcg gctatcagtc aaaaagccag tatcggatat ggcagaggga cttggcaaat 3481 gaccctagtt ggcccccgct aaaccaaacc tcccactctg acatgccgga gtgtggcaga 3541 ggagtgtctt acagcaatcc agtatttgag agcaatgaag aacaactctg a //