LOCUS HQ171445 2883 bp mRNA linear HUM 30-NOV-2011 DEFINITION Homo sapiens cyclin dependent kinase 5 transcript variant (CDKL5) mRNA, complete cds, alternatively spliced. ACCESSION HQ171445 VERSION HQ171445.1 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 2883) AUTHORS Williamson,S.L. TITLE A Novel Transcript of Cyclin-Dependent Kinase-like 5 (CDKL5) has an Alternative C-terminus JOURNAL Unpublished REFERENCE 2 (bases 1 to 2883) AUTHORS Williamson,S.L. TITLE Direct Submission JOURNAL Submitted (23-AUG-2010) NSW Centre for Rett Syndrome Research, Research Building, The Children's Hospital at Westmead, Hawkesbury Rd, Westmead, NSW 2145, Australia FEATURES Location/Qualifiers source 1..2883 /db_xref="H-InvDB:HIT000715137" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /cell_line="SH-SY5Y" gene <1..>2883 /gene="CDKL5" CDS 1..2883 /gene="CDKL5" /note="retains a portion of intron 18 resulting in an alternative C-terminus; alternatively spliced" /codon_start=1 /product="cyclin dependent kinase 5 transcript variant" /protein_id="ADN38258.1" /translation="MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKF KDSEENEEVKETTLRELKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEE MPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNL SEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEID QLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKN LLKLDPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTA LQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGS TSKDLTNNNIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMES SQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQI AEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRTTTRHSK TMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKG LDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSE GGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLP SESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDS PDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLRKLLHLSSASNHPASSD PRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPALQLPGQMDPGWHVS SVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL" BASE COUNT 885 a 731 c 631 g 636 t ORIGIN 1 atgaagattc ctaacattgg taatgtgatg aataaatttg agatccttgg ggttgtaggt 61 gaaggagcct atggagttgt acttaaatgc agacacaagg aaacacatga aattgtggcg 121 atcaagaaat tcaaggacag tgaagaaaat gaagaagtca aagaaacgac tttacgagag 181 cttaaaatgc ttcggactct caagcaggaa aacattgtgg agttgaagga agcatttcgt 241 cggaggggaa agttgtactt ggtgtttgag tatgttgaaa aaaatatgct cgaattgctg 301 gaagaaatgc caaatggagt tccacctgag aaagtaaaaa gctacatcta tcagctaatc 361 aaggctattc actggtgcca taagaatgat attgtccatc gagatataaa accagaaaat 421 ctcttaatca gccacaatga tgtcctaaaa ctgtgtgact ttggttttgc tcgtaatctg 481 tcagaaggca ataatgctaa ttacacagag tacgttgcca ccagatggta tcggtcccca 541 gaactcttac ttggcgctcc ctatggaaag tccgtggaca tgtggtcggt gggctgtatt 601 cttggggagc ttagcgatgg acagccttta tttcctggag aaagtgaaat tgaccaactt 661 tttactattc agaaggtgct aggaccactt ccatctgagc agatgaagct tttctacagt 721 aatcctcgct tccatgggct ccggtttcca gctgttaacc atcctcagtc cttggaaaga 781 agataccttg gaattttgaa tagtgttcta cttgacctaa tgaagaattt actgaagttg 841 gacccagctg acagatactt gacagaacag tgtttgaatc accctacatt tcaaacccag 901 agacttctgg atcgttctcc ttcaaggtca gcaaaaagaa aaccttacca tgtggaaagc 961 agcacattgt ctaatagaaa ccaagccggc aaaagtactg ccttgcagtc tcaccacaga 1021 tctaacagca aggacatcca gaacctgagt gtaggcctgc cccgggctga cgaaggtctc 1081 cctgccaatg aaagcttcct aaatggaaac cttgctggag ctagtcttag tccactgcac 1141 accaaaacct accaagcaag cagccagcct gggtctacca gcaaagatct caccaacaac 1201 aacataccac accttcttag cccaaaagaa gccaagtcaa aaacagagtt tgattttaat 1261 attgacccaa agccttcaga aggcccaggg acaaagtacc tcaagtcaaa cagcagatct 1321 cagcagaacc gccactcatt catggaaagc tctcaaagca aagctgggac actgcagccc 1381 aatgaaaagc agagtcggca tagctatatt gacacaattc cccagtcctc taggagtccc 1441 tcctacagga ccaaggccaa aagccatggg gcactgagtg actccaagtc tgtgagcaac 1501 ctttctgaag ccagggccca aattgcggag cccagtacca gtaggtactt cccatctagc 1561 tgcttagact tgaattctcc caccagccca acccccacca gacacagtga cacgagaact 1621 ttgctcagcc cttctggaag aaataaccga aatgagggaa cgctggactc acgtcgaacc 1681 acaaccagac attctaagac gatggaggaa ttgaagctgc cggagcacat ggacagtagc 1741 cattcccatt cactgtctgc acctcacgaa tctttttctt atggactggg ctacaccagc 1801 cccttttctt cccagcaacg tcctcatagg cattctatgt atgtgacccg tgacaaagtg 1861 agagccaagg gcttggatgg aagcttgagc atagggcaag ggatggcagc tagagccaac 1921 agcctgcaac tcttgtcacc ccagcctgga gaacagctcc ctccagagat gactgtggca 1981 agatcttcgg tcaaagagac ctccagagaa ggcacctctt ccttccatac acgccagaag 2041 tctgagggtg gagtgtatca tgacccacac tctgatgatg gcacagcccc caaagaaaat 2101 agacacctat acaatgatcc tgtgccaagg agagttggta gcttttacag agtgccatct 2161 ccacgtccag acaattcttt ccatgaaaat aatgtgtcaa ctagagtttc ttctctacca 2221 tcagagagca gttctggaac caaccactca aaaagacaac cagcattcga tccatggaaa 2281 agtcctgaaa atattagtca ttcggagcaa ctcaaggaaa aagagaagca aggatttttc 2341 aggtcaatga aaaagaaaaa gaagaaatct caaacagtac ccaattccga cagccctgat 2401 cttctgacgt tgcagaaatc cattcattct gctagcactc caagcagcag accaaaggag 2461 tggcgccccg agaagatctc agatctgcag acccaaagcc agccattaaa gtcactgcgc 2521 aagttgttac atctctcttc ggcctcaaat cacccggctt cctcagatcc ccgcttccag 2581 cccttaacag ctcaacaaac caaaaattcc ttctcagaaa ttcggattca ccccctgagc 2641 caggcctctg gcgggagcag caacatccgg caggaacccg caccgaaggg caggccagcc 2701 ctccagctgc caggtcagat ggatcctggt tggcatgtgt cctctgtgac caggagtgcc 2761 acagagggcc cttcctactc tgaacagctg ggtgccaaaa gtgggccaaa tgggcacccc 2821 tataacagaa caaatcgctc acgaatgcca aatctgaatg atttaaaaga gacagccttg 2881 taa //