LOCUS       NM_001397900            1534 bp    mRNA    linear   PRI 17-FEB-2024
DEFINITION  Homo sapiens cyclin dependent kinase like 4 (CDKL4), transcript
            variant 5, mRNA.
ACCESSION   NM_001397900 XM_017003981
VERSION     NM_001397900.1
KEYWORDS    RefSeq; MANE Select.
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 1534)
  AUTHORS   Russo,S., Marchi,M., Cogliati,F., Bonati,M.T., Pintaudi,M.,
            Veneselli,E., Saletti,V., Balestrini,M., Ben-Zeev,B. and Larizza,L.
  TITLE     Novel mutations in the CDKL5 gene, predicted effects and associated
            phenotypes
  JOURNAL   Neurogenetics 10 (3), 241-250 (2009)
   PUBMED   19241098
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079615.6 and AC092672.3.
            
            On Dec 3, 2021 this sequence version replaced XM_017003981.2.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000451199.7/ ENSP00000389833.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-100               AC079615.6         20007-20106
            101-324             AC079615.6         34389-34612
            325-446             AC079615.6         38017-38138
            447-519             AC079615.6         50505-50577
            520-610             AC079615.6         59360-59450
            611-808             AC079615.6         73475-73672
            809-891             AC079615.6         76268-76350
            892-948             AC092672.3         79524-79580         c
            949-1083            AC092672.3         74120-74254         c
            1084-1534           AC092672.3         70579-71029         c
FEATURES             Location/Qualifiers
     source          1..1534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     gene            1..1534
                     /gene="CDKL4"
                     /note="cyclin dependent kinase like 4"
                     /db_xref="GeneID:344387"
                     /db_xref="HGNC:HGNC:19287"
     exon            1..100
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            101..324
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     CDS             157..1185
                     /gene="CDKL4"
                     /EC_number="2.7.11.22"
                     /note="isoform 3 is encoded by transcript variant 5"
                     /codon_start=1
                     /product="cyclin-dependent kinase-like 4 isoform 3"
                     /protein_id="NP_001384829.1"
                     /db_xref="CCDS:CCDS92740.1"
                     /db_xref="GeneID:344387"
                     /db_xref="HGNC:HGNC:19287"
                     /translation="MEKYEKLAKTGEGSYGVVFKCRNKTSGQVVAVKKFVESEDDPVV
                     KKIALREIRMLKQLKHPNLVNLIEVFRRKRKMHLVFEYCDHTLLNELERNPNGVADGV
                     IKSVLWQTLQALNFCHIHNCIHRDIKPENILITKQGIIKICDFGFAQILIPGDAYTDY
                     VATRWYRAPELLVGDTQYGSSVDIWAIGCVFAELLTGQPLWPGKSDVDQLYLIIRTLG
                     KLIPRHQSIFKSNGFFHGISIPEPEDMETLEEKFSDVHPVALNFMKGCLKMNPDDRLT
                     CSQLLESSYFDSFQEAQIKRKARNEGRNRRRQQNQLLPLIPGSHISPTPDGRKQVLQL
                     KFDHLPNI"
     exon            325..446
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            447..519
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            520..610
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            611..808
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            809..891
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            892..948
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1083
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1534
                     /gene="CDKL4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gctgggtaca cggcgcctcc tccgagcgac acgcgcggga gctggggctg gggctgttcg
       61 gcgctgctcg aagcttcgtc accgtcgccc tgtgggtgca gtgcagcatt gtactgcaag
      121 tcaatcgata caataattta agtcacttca gctataatgg aaaagtatga aaaattagct
      181 aagactggag aagggtctta tggggttgta ttcaaatgca gaaacaaaac ctctggacaa
      241 gtagtagctg ttaaaaaatt tgtggaatct gaagatgatc ctgttgttaa gaaaatagca
      301 ctaagagaaa tacgtatgtt gaagcaatta aaacatccaa atcttgtgaa cctcatcgag
      361 gtgttcagga gaaaaaggaa aatgcattta gtttttgaat actgtgatca tacactttta
      421 aatgagctgg aaagaaaccc aaatggagtt gctgatggag tgatcaaaag cgtattatgg
      481 caaacacttc aagctcttaa tttctgtcat atacataact gtattcacag agatataaaa
      541 cctgaaaata ttctaataac taagcaagga ataatcaaga tttgtgactt cgggtttgca
      601 caaattctga ttccaggaga tgcctacacc gattatgtag ctacgagatg gtaccgagct
      661 cctgaacttc ttgtgggaga tactcagtat ggttcttcag tcgatatatg ggctattggt
      721 tgtgtttttg cagagctcct gacaggccag ccactgtggc ctggaaaatc agatgtggac
      781 caactttatc tgataatcag aacactagga aaattaatcc caagacatca atcaatcttt
      841 aaaagtaacg ggtttttcca tggcatcagt atacctgagc cagaagacat ggaaactctt
      901 gaggaaaagt tctcagatgt tcatcctgtg gctctgaact tcatgaaggg gtgtctgaag
      961 atgaatccag atgacagatt aacctgttcc caactcctgg agagctccta ctttgattct
     1021 tttcaagagg cccaaattaa aagaaaagca cgtaatgaag gaagaaacag aagacgccaa
     1081 cagaatcaac tgttgcctct cataccagga agccacatct cccccacacc tgatggaaga
     1141 aaacaagtcc tccagttaaa atttgatcac cttccaaaca tttaggaaaa tgttctttca
     1201 agtgcaaagt aatttaatat gtacacattt tgtacaagtg agataggaat tctcagtgtt
     1261 tcaaatgcaa atgagccata tgaaaattaa gatgccttct agaattgttt tgctctgatc
     1321 attgctgatt cctttcccca tgttttacat gccaacttta tcttttagaa tattttcttt
     1381 aaatgttata aagcctaaaa ctgcacatat ggaagagaca ttttcaattt catcagagca
     1441 gcccctcccg aggctatcta tatggagaat ttgtgagctt atactttgat ttatgaaaaa
     1501 gatttacatg tgtcatcttg cttcagctga ccac
//
