LOCUS AY217744 3399 bp mRNA linear HUM 21-MAY-2003
DEFINITION Homo sapiens serine/threonine kinase 9 (CDKL5) mRNA, complete cds.
ACCESSION AY217744
VERSION AY217744.1
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 3399)
AUTHORS Kalscheuer,V.M., Tao,J., Donnelly,A., Hollway,G., Schwinger,E.,
Kubart,S., Menzel,C., Hoeltzenbein,M., Tommerup,N., Eyre,H.,
Harbord,M., Haan,E., Sutherland,G.R., Ropers,H.H. and Gecz,J.
TITLE Disruption of the serine/threonine kinase 9 gene causes severe
X-linked infantile spasms and mental retardation
JOURNAL Am. J. Hum. Genet. 72 (6), 1401-1411 (2003)
PUBMED 12736870
REFERENCE 2 (bases 1 to 3399)
AUTHORS Kuebart,S. and Gecz,J.
TITLE Direct Submission
JOURNAL Submitted (13-JAN-2003) Prof. H.H. Ropers, Max-Planck-Institute for
Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany
FEATURES Location/Qualifiers
source 1..3399
/db_xref="H-InvDB:HIT000085331"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp22.3"
gene 1..3399
/gene="CDKL5"
/gene_synonym="STK9"
5'UTR 1..221
/gene="CDKL5"
/gene_synonym="STK9"
CDS 222..3314
/gene="CDKL5"
/gene_synonym="STK9"
/codon_start=1
/product="serine/threonine kinase 9"
/protein_id="AAO64440.1"
/translation="MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKF
KDSEENEEVKETTLRELKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEE
MPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNL
SEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEID
QLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKN
LLKLDPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTA
LQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGS
TSKDLTNNNIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMES
SQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQI
AEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRTTTRHSK
TMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKG
LDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSE
GGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLP
SESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDS
PDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLRKLLHLSSASNHPASSD
PRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPALQLPDGGCDGRRQR
HHSGPQDRRFMLRTTEQQGEYFCCGDPKKPHTPCVPNRALHRPISSPAPYPVLQVRGT
SMCPTLQVRGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK
"
3'UTR 3315..3399
/gene="CDKL5"
/gene_synonym="STK9"
BASE COUNT 1010 a 878 c 752 g 759 t
ORIGIN
1 cggcgacggc gtcctcagga gctgtggggt cccctgctag aagtggggga ctcggcgggg
61 gagtcattta atacttcatg attagaacaa atatgtgaaa gttcccacca accagtgaga
121 atttcttcct tcagacggtt ttggatctta ctgcacagct ttctgagaag ttcttttggt
181 gccatgtttt gtggcttgca tcaaaagagg agtttgtctt catgaagatt cctaacattg
241 gtaatgtgat gaataaattt gagatccttg gggttgtagg tgaaggagcc tatggagttg
301 tacttaaatg cagacacaag gaaacacatg aaattgtggc gatcaagaaa ttcaaggaca
361 gtgaagaaaa tgaagaagtc aaagaaacga ctttacgaga gcttaaaatg cttcggactc
421 tcaagcagga aaacattgtg gagttgaagg aagcatttcg tcggagggga aagttgtact
481 tggtgtttga gtatgttgaa aaaaatatgc tcgaattgct ggaagaaatg ccaaatggag
541 ttccacctga gaaagtaaaa agctacatct atcagctaat caaggctatt cactggtgcc
601 ataagaatga tattgtccat cgagatataa aaccagaaaa tctcttaatc agccacaatg
661 atgtcctaaa actgtgtgac tttggttttg ctcgtaatct gtcagaaggc aataatgcta
721 attacacaga gtacgttgcc accagatggt atcggtcccc agaactctta cttggcgctc
781 cctatggaaa gtccgtggac atgtggtcgg tgggctgtat tcttggggag cttagcgatg
841 gacagccttt atttcctgga gaaagtgaaa ttgaccaact ttttactatt cagaaggtgc
901 taggaccact tccatctgag cagatgaagc ttttctacag taatcctcgc ttccatgggc
961 tccggtttcc agctgttaac catcctcagt ccttggaaag aagatacctt ggaattttga
1021 atagtgttct acttgaccta atgaagaatt tactgaagtt ggacccagct gacagatact
1081 tgacagaaca gtgtttgaat caccctacat ttcaaaccca gagacttctg gatcgttctc
1141 cttcaaggtc agcaaaaaga aaaccttacc atgtggaaag cagcacattg tctaatagaa
1201 accaagccgg caaaagtact gctttgcagt ctcaccacag atctaacagc aaggacatcc
1261 agaacctgag tgtaggcctg ccccgggctg acgaaggtct ccctgccaat gaaagcttcc
1321 taaatggaaa ccttgctgga gctagtctta gtccactgca caccaaaacc taccaagcaa
1381 gcagccagcc tgggtctacc agcaaagatc tcaccaacaa caacatacca caccttctta
1441 gcccaaaaga agccaagtca aaaacagagt ttgattttaa tattgaccca aagccttcag
1501 aaggcccagg gacaaagtac ctcaagtcaa acagcagatc tcagcagaac cgccactcat
1561 tcatggaaag ctctcaaagc aaagctggga cactgcagcc caatgaaaag cagagtcggc
1621 atagctatat tgacacaatt ccccagtcct ctaggagtcc ctcctacagg accaaggcca
1681 aaagccatgg ggcactgagt gactccaagt ctgtgagcaa cctttctgaa gccagggccc
1741 aaattgcgga gcccagtacc agtaggtact tcccatctag ctgcttagac ttgaattctc
1801 ccaccagccc aacccccacc agacacagtg acacgagaac tttgctcagc ccttctggaa
1861 gaaataaccg aaatgaggga acgctggact cacgtcgaac cacaaccaga cattctaaga
1921 cgatggagga attgaagctg ccggagcaca tggacagtag ccattcccat tcactgtctg
1981 cacctcacga atctttttct tatggactgg gctacaccag ccccttttct tcccagcaac
2041 gtcctcatag gcattctatg tatgtgaccc gtgacaaagt gagagccaag ggcttggatg
2101 gaagcttgag catagggcaa gggatggcag ctagagccaa cagcctgcaa ctcttgtcac
2161 cccagcctgg agaacagctc cctccagaga tgactgtggc aagatcttcg gtcaaagaga
2221 cctccagaga aggcacctct tccttccata cacgccagaa gtctgagggt ggagtgtatc
2281 atgacccaca ctctgatgat ggcacagccc ccaaagaaaa tagacaccta tacaatgatc
2341 ctgtgccaag gagagttggt agcttttaca gagtgccatc tccacgtcca gacaattctt
2401 tccatgaaaa taatgtgtca actagagttt cttctctacc atcagagagc agttctggaa
2461 ccaaccactc aaaaagacaa ccagcattcg atccatggaa aagtcctgaa aatattagtc
2521 attcagagca actcaaggaa aaagagaagc aaggattttt caggtcaatg aaaaagaaaa
2581 agaagaaatc tcaaacagta cccaattccg acagccctga tcttctgacg ttgcagaaat
2641 ccattcattc tgctagcact ccaagcagca gaccaaagga gtggcgcccc gagaagatct
2701 cagatctgca gacccaaagc cagccattaa aatcactgcg caagttgtta catctctctt
2761 cggcctcaaa tcacccggct tcctcagatc cccgcttcca gcccttaaca gctcaacaaa
2821 ccaaaaattc cttctcagaa attcggattc accccctgag ccaggcctct ggcgggagca
2881 gcaacatccg gcaggaaccc gcaccgaagg gcaggccagc cctccagctg ccagacggtg
2941 gatgtgatgg cagaagacag agacaccatt ctggacccca agatagacgc ttcatgttaa
3001 ggacgacaga acaacaagga gaatacttct gctgtggtga cccaaagaag cctcacactc
3061 cgtgcgtccc aaaccgagcc cttcatcgtc caatctccag tcctgctccc tatccagtac
3121 tccaggtccg aggcacttcc atgtgcccga cactccaggt ccgaggcact gatgctttca
3181 gctgcccaac ccagcaatcc gggttctctt tcttcgtgag acacgttatg agggaagccc
3241 tgattcacag ggcccaggta aaccaagctg cgctcctgac ataccatgag aatgcggcac
3301 tgacgggcaa gtgacttctg caagcctgcg gctggtccca atgccctgaa tcacctctct
3361 catggaagaa ccaattaaca ccaatgaatc aaccaaaac
//