LOCUS JF913492 7250 bp mRNA linear HUM 18-MAR-2013 DEFINITION Homo sapiens ATP-binding cassette sub-family A member 13 variant 3 (ABCA13) mRNA, complete cds, alternatively spliced. ACCESSION JF913492 VERSION JF913492.1 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 7250) AUTHORS Maess,M.B., Stolle,K., Cullen,P. and Lorkowski,S. TITLE Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13 JOURNAL Gene 515 (2), 298-307 (2013) PUBMED 23266639 REFERENCE 2 (bases 1 to 7250) AUTHORS Maess,M.B., Stolle,K., Cullen,P. and Lorkowski,S. TITLE Direct Submission JOURNAL Submitted (04-MAY-2011) Institute of Nutrition, Friedrich Schiller University Jena, Dornburgerstr. 25, Jena 07743, Germany FEATURES Location/Qualifiers source 1..7250 /db_xref="H-InvDB:HIT000715569" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene 1..7250 /gene="ABCA13" exon 1..645 /gene="ABCA13" /number=1 5'UTR 1..127 /gene="ABCA13" CDS 128..6781 /gene="ABCA13" /note="alternatively spliced" /codon_start=1 /product="ATP-binding cassette sub-family A member 13 variant 3" /protein_id="AFH89042.1" /translation="MVICLTLEALWKNLKKDNWNVSNVLMTFTQHPNNLLKTIETVLE ASSGIKSDYEGDLNKSLYFDTPLSQNITHHQLEKAIHNVLSRIALWRKGLLFNNSEWI TSTRTLFQPLFEIFIKATTGKNVTSEKEERTKKEMIDFPYSFKPFFCLEKYLGGLFVL TKYWQQIPLTDQSVVEICEVFQQTVKPSEAMEMLQKVKMMVVRVLTIVAENPSWTKDI LCATLSCKQNGIRHLILSAIQGVTLAQDHFQEIEKIWSSPNQLNCESLSKNLSSTLES FKSSLENATGQDCTSQPRLETVQQHLYMLAKSLEETWSSGNPIMTFLSNFTVTEDVKI KDLMKNITKLTEELRSSIQISNETIHSILEANISHSKVLFSALTVALSGKCDQEILHL LLTFPKGEKSWIAAEELCSLPGSKVYSLIVLLSRNLDVRAFIYKTLMPSEANGLLNSL LDIVSSLSALLAKAQHVFEYLPEFLHTFKITALLETLDFQQVSQNVQARSSAFGSFQF VMKMVCKDQASFLSDSNMFINLPRVKELLEDDKEKFNIPEDSTPFCLKLYQEILQLPN GALVWTFLKPILHGKILYTPNTPEINKVIQKANYTFYIVDKLKTLSETLLEMSSLFQR SGSGQMFNQLQEALRNKFVRNFVENQLHIDVDKLTEKLQTYGGLLDEMFNHAGAGRFR FLGSILVNLSSCVALNRFQALQSVDILETKAHELLQQNSFLASIIFSNSLFDKNFRSE SVKLPPHVSYTIRTNVLYSVRTDVVKNPSWKFHPQNLPADGFKYNYVFAPLQDMIERA IILVQTGQEALEPAAQTQAAPYPCHTSDLFLNNVGFFFPLIMMLTWMVSVASMVRKLV YEQEIQIEEYMRMMGVHPVIHFLAWFLENMAVLTISSATLAIVLKTSGIFAHSNTFIV FLFLLDFGMSVVMLSYLLSAFFSQANTAALCTSLVYMISFLPYIVLLVLHNQLSFVNQ TFLCLLSTTAFGQGVFFITFLEGQETGIQWNNMYQALEQGGMTFGWVCWMILFDSSLY FLCGWYLSNLIPGTFGLRKPWYFPFTASYWKSVGFLVEKRQYFLSSSLFFFNENFDNK GSSLQNREGELEGSAPGVTLVSVTKEYEGHKAVVQDLSLTFYRDQITALLGTNGAGKT TIISMLTGLHPPTSGTIIINGKNLQTDLSRVRMELGVCPQQDILLDNLTVREHLLLFA SIKAPQWTKKELHQQVNQTLQDVDLTQHQHKQTRALSGGLKRKLSLGIAFMGMSRTVV LDEPTSGVDPCSRHSLWDILLKYREGRTIIFTTHHLDEAEALSDRVAVLQHGRLRCCG PPFCLKEAYGQGLRLTLTRQPSVLEAHDLKDMACVTSLIKIYIPQAFLKDSSGSELTY TIPKDTDKACLKGLFQALDENLHQLHLTGYGISDTTLEEVFLMLLQDSNKKSHIALGT ESELQNHRPTGHLSGYCGSLARPATVQGVQLLRAQVAAILARRLRRTLRAGKSTLADL LLPVLFVALAMGLFMVRPLATEYPPLRLTPGHYQRAETYFFSSSGGDNLDLTRVLLRK FRDQDLPCADLNPRQKNSSCWRTDPFSHPEFQDSCGCLKCPNRSASAPYLTNHLGHTL LNLSGFNMEEYLLAPSEKPRLGGWSFGLKIPSEAGGANGNISKPPTLAKVWYNQKGFH SLPSYLNHLNNLILWQHLPPTVDWRQYGITLYSHPYGGALLNKDKILESIRQCGVALC IVLGFSILSASIGSSVVRDRVIGAKRLQHISGLGYRMYWFTNFLYDMLFYLVSVCLCV AVIVAFQLTAFTFRKNLAATALLLSLFGYATLPWMYLMSRIFSSSDVAFISYVSLNFI FGLCTMLITIMPRLLAIISKAKNLQNIYDVLKWVFTIFPQFCLGQGLVELCYNQIKYD LTHNFGIDSYVSPFEMNFLGWIFVQLASQGTVLLLLRVLLHWDLLRWPRGHSTLQGTV KSSKDTDVEKEEKRVFEGRTNGDILVLYNLSKHYRRFFQNIIAVQDISLGIPKGECFG LLGVNGAGKSTTFKMLNGEVSLTSGHAIIRTPMGDAVDLSSAGTAGVLIGYCPQQDAL DELLTGWEHLYYYCSLRGIPRQCIPEVAGDLIRRLHLEAHADKPVATYSGGTKRKLST ALALVGKPDILLLDEPSSGMDPCSKRYLWQTIMKEVREGCAAVLTSHSMEECEALCTR LAIMVNGSFKCLGSPQHIKNRKLNKTN" exon 646..755 /gene="ABCA13" /number=2 exon 756..874 /gene="ABCA13" /number=3 exon 875..1038 /gene="ABCA13" /number=4 exon 1039..1117 /gene="ABCA13" /number=5 exon 1118..1240 /gene="ABCA13" /number=6 exon 1241..1435 /gene="ABCA13" /number=7 exon 1436..1600 /gene="ABCA13" /number=8 exon 1601..1778 /gene="ABCA13" /number=9 exon 1779..1918 /gene="ABCA13" /number=10 exon 1919..2032 /gene="ABCA13" /number=11 exon 2033..2123 /gene="ABCA13" /number=12 exon 2124..2300 /gene="ABCA13" /number=13 exon 2301..2607 /gene="ABCA13" /number=14 exon 2608..2722 /gene="ABCA13" /number=15 exon 2723..3052 /gene="ABCA13" /number=16 exon 3053..3122 /gene="ABCA13" /number=17 exon 3123..3254 /gene="ABCA13" /number=18 exon 3255..3392 /gene="ABCA13" /number=19 exon 3393..3573 /gene="ABCA13" /number=20 exon 3574..3792 /gene="ABCA13" /number=21 exon 3793..3989 /gene="ABCA13" /number=22 exon 3990..4147 /gene="ABCA13" /number=23 exon 4148..4378 /gene="ABCA13" /number=24 exon 4379..4484 /gene="ABCA13" /number=25 exon 4485..4734 /gene="ABCA13" /number=26 exon 4735..4827 /gene="ABCA13" /number=27 exon 4828..4897 /gene="ABCA13" /number=28 exon 4898..5016 /gene="ABCA13" /number=29 exon 5017..5104 /gene="ABCA13" /number=30 exon 5105..5213 /gene="ABCA13" /number=31 exon 5214..5268 /gene="ABCA13" /number=32 exon 5269..5446 /gene="ABCA13" /number=33a exon 5447..5562 /gene="ABCA13" /number=34 exon 5563..5719 /gene="ABCA13" /number=35 exon 5720..5973 /gene="ABCA13" /number=36 exon 5974..6166 /gene="ABCA13" /number=37 exon 6167..6276 /gene="ABCA13" /number=38 exon 6277..6427 /gene="ABCA13" /number=39 exon 6428..6562 /gene="ABCA13" /number=40 exon 6563..6666 /gene="ABCA13" /number=41 exon 6667..6759 /gene="ABCA13" /number=42 exon 6760..7250 /gene="ABCA13" /number=43 5'UTR 6782..7250 /gene="ABCA13" BASE COUNT 1932 a 1687 c 1712 g 1919 t ORIGIN 1 ataccctaat ccaatttcca ctcatagtgg ccctcaagat ataaaatggg aaataattca 61 tgaagtgatc ccttttttgg ataaaatatt atcacaaaac agcacagaaa taggatcttt 121 cttgaaaatg gtgatctgtc tcaccttaga agctctttgg aaaaacttaa agaaagataa 181 ttggaatgtt tctaatgtgt tgatgacatt tactcagcat ccaaataacc ttttgaaaac 241 catagaaaca gttttagagg cctccagtgg aattaaaagt gactatgaag gtgatttgaa 301 taaaagttta tattttgaca cacctttgag tcagaatata actcatcatc aacttgaaaa 361 agcaatccat aatgttttaa gtagaatagc tctctggagg aaaggacttc tgtttaacaa 421 ctctgaatgg ataacttcca caagaacttt gtttcagcca ctttttgaga ttttcattaa 481 agcaaccacc ggaaagaatg tcacatcaga aaaagaagag agaaccaaga aagagatgat 541 tgactttcct tatagtttca aaccattttt ctgtttggag aaatacctgg gaggattatt 601 tgtattgact aaatactggc aacaaatccc actaacagat caaagtgttg ttgagatttg 661 tgaagttttc cagcagactg tgaagccctc agaagccatg gagatgctgc agaaagtgaa 721 gatgatggtc gtacgtgtgc tcaccatcgt tgcagaaaac ccttcctgga ccaaggacat 781 tttgtgtgct actctgagtt gcaagcaaaa tgggataagg catctcattt tatctgctat 841 acaaggggtc actttggcgc aggaccactt ccaggaaatt gaaaagatat ggtcctcgcc 901 gaatcagcta aattgtgaaa gtcttagcaa gaatctttct agcaccttgg agagcttcaa 961 gagcagcttg gaaaatgcca ctggccagga ctgcacaagc cagccgaggc tggagacggt 1021 gcagcagcac ttgtacatgt tggccaaaag cctcgaggaa acttggtcat cagggaatcc 1081 catcatgact tttctcagca atttcacagt aactgaggat gtaaaaataa aagatttgat 1141 gaagaatatc accaagttga ctgaggagct tcgctcttcc atccaaatct cgaatgagac 1201 tatccatagc attctagaag caaatatttc ccactccaag gttctcttca gtgccctcac 1261 cgtagctctg tctggaaagt gtgatcagga aatccttcat ctcctgctga catttcccaa 1321 aggggaaaaa tcttggatcg cagcggagga actctgtagc ctgccagggt caaaagtgta 1381 ttctctgatt gtgttgctga gtcgaaactt ggatgtgcga gctttcattt acaagactct 1441 gatgccttct gaagcaaatg gcttgctcaa ctccttgctg gatatagttt ccagcctcag 1501 cgccttgctt gccaaagccc agcacgtctt tgagtatctt cctgagtttc ttcacacatt 1561 taaaatcact gccttgctag aaaccctgga ctttcaacag gtttcacaaa atgtccaggc 1621 cagaagttca gcttttggtt ctttccagtt tgtgatgaag atggtttgca aggaccaagc 1681 atcattcctt agcgattcta atatgtttat taatttgccc agagttaagg aactcttgga 1741 agatgacaaa gaaaaattca acattcctga agattcaaca ccgttttgct tgaagcttta 1801 tcaggaaatt ctacaattgc caaatggtgc tttggtgtgg accttcctaa aacccatatt 1861 gcatggaaaa atactataca caccaaacac tccagaaatt aacaaggtca ttcaaaaggc 1921 taattacacc ttttatattg tggacaaact aaaaacttta tcagaaacac tgctggaaat 1981 gtccagcctt ttccagagaa gtggaagtgg ccagatgttc aaccagctgc aggaggccct 2041 gagaaacaaa tttgtaagaa actttgtaga aaaccagttg cacattgatg tagacaaact 2101 tactgaaaaa ctccagacat acggagggct gctggatgag atgtttaacc atgcaggcgc 2161 tggacgcttc cgtttcttgg gcagcatctt ggtcaatctc tcttcctgcg tggcactgaa 2221 ccgtttccag gctctgcagt ctgtcgacat cctggagact aaagcacatg aactcttgca 2281 gcagaacagc ttcttggcca gtatcatttt cagcaattcc ttattcgaca agaacttcag 2341 atcagagtct gtcaaactgc caccccatgt ctcatacaca atccggacca atgtgttata 2401 cagcgtgcga acagatgtgg taaaaaaccc ttcttggaag ttccaccctc agaatctacc 2461 agctgatggg ttcaaatata actacgtctt tgccccactg caagacatga tcgaaagagc 2521 catcattttg gtgcagactg ggcaggaagc cctggaacca gcagcacaga ctcaggcggc 2581 cccttacccc tgccatacca gcgacctatt cctgaacaac gttggtttct tttttccact 2641 gataatgatg ctgacgtgga tggtgtctgt ggccagcatg gtcagaaagt tggtgtatga 2701 gcaggagata cagatagaag agtatatgcg gatgatggga gtgcatccag tgatccattt 2761 cctggcctgg ttcctggaga acatggctgt gttgaccata agcagtgcta ctctggccat 2821 cgttctgaaa acaagtggca tctttgcaca cagcaatacc tttattgttt tcctctttct 2881 cttggatttt gggatgtcag tcgtcatgct gagctacctc ttgagtgcat ttttcagcca 2941 agctaataca gcggcccttt gtaccagcct ggtgtacatg atcagctttc tgccctacat 3001 agttctattg gttctacata accaattaag ttttgttaat cagacatttc tgtgccttct 3061 ttcgacaacc gcctttggac aaggggtatt ttttattaca ttcctggaag gacaagagac 3121 agggattcaa tggaataata tgtaccaggc tctggaacaa gggggcatga catttggctg 3181 ggtttgctgg atgattcttt ttgattcaag cctttatttt ttgtgtggat ggtacttgag 3241 caacttgatt cctggaacat ttggtttacg gaaaccatgg tatttcccct ttactgcctc 3301 atattggaag agtgtgggtt tcttggtgga gaaaaggcaa tactttctaa gttctagtct 3361 gttcttcttc aatgagaact ttgacaataa agggtcatca ctgcaaaaca gggaaggaga 3421 gcttgaagga agtgccccgg gagtcaccct ggtgtctgtg accaaggaat atgagggcca 3481 caaggctgtg gtccaagacc tcagcctgac cttctacaga gaccaaatca ccgccctgct 3541 ggggacaaac ggtgccggga aaaccactat catatccatg ttgacggggc tccaccctcc 3601 cacttctgga accatcatca tcaatggcaa gaacctacag acagacctgt cgagggtcag 3661 aatggagctt ggtgtgtgtc cgcagcagga catcctgttg gacaacctca ccgtccggga 3721 acatttgctg ctctttgctt ccataaaggc gcctcagtgg accaagaagg agctgcatca 3781 gcaagtcaat caaactcttc aggatgtgga cttaactcag catcagcaca aacagacccg 3841 agctctgtct ggaggcctga agaggaagct ctcccttggc attgctttca tgggcatgtc 3901 gaggaccgtg gttctggatg agcccaccag tggggtggac ccttgctccc ggcatagcct 3961 gtgggacatt ctgctcaagt accgagaagg tcgtacgatc atcttcacaa cccaccacct 4021 ggatgaagct gaagcgctga gtgaccgcgt ggccgtcctc cagcatggga ggctcaggtg 4081 ctgcggtcct cccttctgcc tgaaggaggc atatggccag gggctccgcc tgacactcac 4141 gaggcagcct tctgttctgg aggcccatga tctgaaagac atggcttgtg ttacatccct 4201 gataaagatc tatattccac aagcatttct caaagacagc agtggaagtg agctgaccta 4261 caccattcca aaggacacag acaaggcctg cttgaaaggg ctcttccagg ccctggatga 4321 gaacctgcat cagctgcacc tgacgggcta tgggatctca gacaccacct tagaagaggt 4381 gtttttgatg cttttgcaag attccaacaa gaaatctcac attgccctgg ggactgagtc 4441 agagctgcag aaccacaggc ctacaggaca tctgtctggc tactgtggct ccctagcacg 4501 gcccgcaact gtgcagggcg tccagctgct ccgcgcacaa gtggccgcga tcctggcccg 4561 gaggctccgc cgcacgctgc gcgccgggaa gagcaccctc gccgacctgc tgctgccagt 4621 cctcttcgtg gccttggcca tgggcttgtt catggtgaga cccctggcca ccgagtaccc 4681 tcccctcaga ctcacacctg gacattacca gcgggccgag acctactttt tcagcagcag 4741 tgggggcgac aacttggacc tcacccgtgt gcttctgcgg aagtttagag atcaagattt 4801 gccctgtgca gatttaaacc cacgccagaa gaattcttca tgctggcgca cagatccctt 4861 ttctcaccca gaattccagg attcatgtgg ctgcctgaag tgtccaaata gaagtgctag 4921 tgctccctac ctgaccaacc acctgggcca cacactgttg aatctctcag gcttcaatat 4981 ggaggagtac ttgctggcac catctgaaaa accaaggctt ggaggttggt cttttggatt 5041 aaaaatcccc agtgaagctg gaggtgcaaa tggaaacata tcaaaacccc caactctggc 5101 aaaggtgtgg tataatcaga agggttttca ttccctacct tcctacttaa atcatctaaa 5161 caaccttatt ttgtggcagc acctaccccc tactgtggac tggagacaat acggaataac 5221 actctacagc cacccatatg gaggggcctt gctgaacaag gacaagatcc tggagagcat 5281 ccgtcagtgt ggagtggccc tctgcatcgt gctgggattc tccatcctgt ctgcatccat 5341 cggcagctct gtggtgaggg acagggtgat tggagccaaa aggttgcagc acataagtgg 5401 ccttggctac aggatgtact ggttcacaaa cttcctatat gacatgctct tttacttggt 5461 ttccgtctgc ctgtgtgttg ccgttattgt cgccttccag ttaacagctt ttactttccg 5521 caagaacttg gcagccacgg ccctcctgct gtcacttttc ggatatgcaa ctcttccatg 5581 gatgtacctg atgtccagaa tcttttccag ttcggacgtg gctttcattt cctatgtctc 5641 actaaacttc atctttggcc tttgtaccat gctcataacc attatgcccc ggttgctagc 5701 catcatctcc aaagctaaga atttacagaa tatctatgat gtcctcaagt gggtctttac 5761 tatttttcct caattctgtc ttggtcaagg actggtagaa ctctgctata atcagatcaa 5821 atatgacctg acccacaact tcggcattga ttcctatgtg agtccctttg agatgaactt 5881 tctgggctgg atcttcgtgc aactggcctc gcagggcaca gtacttctcc tcttgagggt 5941 tctgctacac tgggaccttc tgcgatggcc aaggggtcat tctactctcc aaggcacagt 6001 caaatcttct aaggatacag atgttgaaaa agaggaaaag agagtgtttg aaggaaggac 6061 caatggagac attcttgtgt tatacaacct tagtaaacat tatcgacgct ttttccagaa 6121 tattattgct gtgcaagata ttagtttggg cataccaaaa ggagagtgct ttggacttct 6181 aggggtgaat ggagctggga agagcacgac tttcaaaatg ctgaatggtg aagtttctct 6241 aacttcagga catgctatca tcaggactcc catgggagac gccgtggacc tgtcttctgc 6301 tggcacggca ggcgtgctca ttggctactg tccccagcag gatgccctgg acgagcttct 6361 gactggttgg gaacatctct attattactg tagcttacgc gggattccaa ggcagtgcat 6421 ccctgaggtt gctggagacc tcatcaggcg cttacacctc gaagcccacg cggacaaacc 6481 tgtggccacc tacagtgggg gaaccaagcg gaaactctct acagccctgg ccctggtggg 6541 gaaacctgac attcttttat tggatgagcc cagctctggg atggatccct gctctaagcg 6601 gtacctgtgg caaacaataa tgaaggaggt tcgggaaggc tgtgctgcgg tgctgacctc 6661 ccacagcatg gaggagtgtg aggctctttg cacaagactg gccataatgg ttaacggcag 6721 cttcaaatgt cttggttctc ctcagcacat caaaaatagg aagttaaata agacaaactg 6781 aagtcaactg gtgaccaagc acatggagaa ggcagcatgg gtgcaggaga cgctgaagaa 6841 cacgataata gaactttaca gccggctgat ctgagcttga gaaaaggagg tgcctttggg 6901 tttgggacat ggaaagatag tgatgtcttt agagaaacag aagttgggtg ggctgtgagg 6961 gtgaggagga ttctgggtgt tgagtatgtt cctagggaca ctgatgggct gtttggagaa 7021 ttcctacgag gaagggctgt tgatattcat gttctctttg ctatggcaag aagcaggaga 7081 gaaaacttaa agttgggggt gattattgcg tatggttgag acggaggaat aagtagctga 7141 actcatcaca actttgaagc aatatttata aactctgaag tagagtgagc tgagctcaga 7201 ttcatgttgc tgcatttatt ttaattatta ctaaatatag gcaatttgcc //