LOCUS JF913491 7777 bp mRNA linear HUM 18-MAR-2013
DEFINITION Homo sapiens ATP-binding cassette sub-family A member 13 variant 2
(ABCA13) mRNA, complete cds, alternatively spliced.
ACCESSION JF913491
VERSION JF913491.1
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 7777)
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 7777)
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..7777
/db_xref="H-InvDB:HIT000715568"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..7777
/gene="ABCA13"
exon 1..645
/gene="ABCA13"
/number=1
5'UTR 1..127
/gene="ABCA13"
CDS 128..7006
/gene="ABCA13"
/note="alternatively spliced"
/codon_start=1
/product="ATP-binding cassette sub-family A member 13
variant 2"
/protein_id="AFH89041.1"
/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
IVLGFSILSASIGSSVLFYLVSVCLCVAVIVAFQLTAFTFRKNLAATALLLSLFGYAT
LPWMYLMSRIFSSSDVAFISYVSLNFIFGLCTMLITIMPRLLAIISKAKNLQNIYDVL
KWVFTIFPQFCLGQGLVELCYNQIKYDLTHNFGIDSYVSPFEMNFLGWIFVQLASQGT
VLLLLRVLLHWDLLRWPRGHSTLQGTVKSSKDTDVEKEEKRVFEGRTNGDILVLYNLS
KHYRRFFQNIIAVQDISLGIPKGECFGLLGVNGAGKSTTFKMLNGEVSLTSGHAIIRT
PMGDAVDLSSAGTAGVLIGYCPQQDALDELLTGWEHLYYYCSLRGIPRQCIPEVAGDL
IRRLHLEAHADKPVATYSGGTKRKLSTALALVGKPDILLLDEPSSGMDPCSKRYLWQT
IMKEVREGCAAVLTSHSMEECEALCTRLAIMVNGSFKCLGSPQHIKNRFGDGYTVKVW
LCKEANQHCTVSDHLKLYFPGIQFKGQHLNLLEYHVPKRWGCLADLFKVIENNKTFLN
IKHYSINQTTLEQVFINFASEQQQTLQSTLDPSTDSHHTHHLPI"
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..5353
/gene="ABCA13"
/number=33b
exon 5354..5469
/gene="ABCA13"
/number=34
exon 5470..5626
/gene="ABCA13"
/number=35
exon 5627..5880
/gene="ABCA13"
/number=36
exon 5881..6073
/gene="ABCA13"
/number=37
exon 6074..6183
/gene="ABCA13"
/number=38
exon 6184..6334
/gene="ABCA13"
/number=39
exon 6335..6469
/gene="ABCA13"
/number=40
exon 6470..6573
/gene="ABCA13"
/number=41
exon 6574..6666
/gene="ABCA13"
/number=42
exon 6667..6772
/gene="ABCA13"
/number=44
exon 6773..6910
/gene="ABCA13"
/number=45
exon 6911..7777
/gene="ABCA13"
/number=46
5'UTR 7007..7777
/gene="ABCA13"
BASE COUNT 2114 a 1812 c 1720 g 2131 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 gtgctctttt acttggtttc cgtctgcctg tgtgttgccg ttattgtcgc
5401 cttccagtta acagctttta ctttccgcaa gaacttggca gccacggccc tcctgctgtc
5461 acttttcgga tatgcaactc ttccatggat gtacctgatg tccagaatct tttccagttc
5521 ggacgtggct ttcatttcct atgtctcact aaacttcatc tttggccttt gtaccatgct
5581 cataaccatt atgccccggt tgctagccat catctccaaa gctaagaatt tacagaatat
5641 ctatgatgtc ctcaagtggg tctttactat ttttcctcaa ttctgtcttg gtcaaggact
5701 ggtagaactc tgctataatc agatcaaata tgacctgacc cacaacttcg gcattgattc
5761 ctatgtgagt ccctttgaga tgaactttct gggctggatc ttcgtgcaac tggcctcgca
5821 gggcacagta cttctcctct tgagggttct gctacactgg gaccttctgc gatggccaag
5881 gggtcattct actctccaag gcacagtcaa atcttctaag gatacagatg ttgaaaaaga
5941 ggaaaagaga gtgtttgaag gaaggaccaa tggagacatt cttgtgttat acaaccttag
6001 taaacattat cgacgctttt tccagaatat tattgctgtg caagatatta gtttgggcat
6061 accaaaagga gagtgctttg gacttctagg ggtgaatgga gctgggaaga gcacgacttt
6121 caaaatgctg aatggtgaag tttctctaac ttcaggacat gctatcatca ggactcccat
6181 gggagacgcc gtggacctgt cttctgctgg cacggcaggc gtgctcattg gctactgtcc
6241 ccagcaggat gccctggacg agcttctgac tggttgggaa catctctatt attactgtag
6301 cttacgcggg attccaaggc agtgcatccc tgaggttgct ggagacctca tcaggcgctt
6361 acacctcgaa gcccacgcgg acaaacctgt ggccacctac agtgggggaa ccaagcggaa
6421 actctctaca gccctggccc tggtggggaa acctgacatt cttttattgg atgagcccag
6481 ctctgggatg gatccctgct ctaagcggta cctgtggcaa acaataatga aggaggttcg
6541 ggaaggctgt gctgcggtgc tgacctccca cagcatggag gagtgtgagg ctctttgcac
6601 aagactggcc ataatggtta acggcagctt caaatgtctt ggttctcctc agcacatcaa
6661 aaataggttt ggtgatggtt atacagtcaa agtttggctc tgtaaggaag caaatcaaca
6721 ttgcactgtt tctgaccact tgaagcttta ttttccagga attcagttca agggacagca
6781 cctgaattta ttagaatatc atgtgccaaa aagatgggga tgcctagctg acttgttcaa
6841 agttatagag aacaataaaa ccttcttgaa tattaagcat tattccatta accaaaccac
6901 tttggagcag gtatttatta attttgcttc tgagcagcag caaactctac aatctactct
6961 tgatccatcc actgacagtc accacacaca tcacttgccc atctgagcac taaagaagtt
7021 tccataagga ataaaacctt gtcttccatt acaattaaca gtcaaggata aaacaagcac
7081 gcgcacaatc aaggagctgg aacacactct ccaggccgtc aaattattct cttgttcatt
7141 ttctattttg aatctccttg ttagttaata accaccaaat ggaaaggtca ttctttctgc
7201 agacttttgg ggagctcctc caaaacattt gttctcttta ccatgccaga tggacaccag
7261 cttctttgtg acaaaggcat gaatgatttg acagtgtcca aactgagaca ttctggagct
7321 ggaaagcctg tcacactaga gtgtgtgtga catgtccact ctaaacatgt cacttttctg
7381 ttaagaaaac tgagccccct ccccacaggt taaaaaactt tagtaacttg tttgtataga
7441 aaatagtaac aaggactatt ttctattgtt gtcatctatt tactagatac atgtttttaa
7501 tgattttaat gtaagctttt attaatactg atgacattat atggtatgat atgaaaaaat
7561 caccaatttt ttacatataa aagatgcctt tttaaaaaaa taggttttaa gagctctttt
7621 agtatacact ttagcaaaat taattaaatt gaactagtta ctctgtatca attacagtag
7681 ttctaccaga atctcccagg ttataattta tgagggtaga gaaataaaat gtagatgcat
7741 tttctttttc ttcatttgga tgaataatta ctgtttt
//