LOCUS       NM_001024624            3246 bp    mRNA    linear   ROD 02-MAY-2023
DEFINITION  Mus musculus cyclin dependent kinase like 5 (Cdkl5), mRNA.
ACCESSION   NM_001024624
VERSION     NM_001024624.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3246)
  AUTHORS   Loi M, Bastianini S, Candini G, Rizzardi N, Medici G, Papa V,
            Gennaccaro L, Mottolese N, Tassinari M, Uguagliati B, Berteotti C,
            Martire VL, Zoccoli G, Cenacchi G, Trazzi S, Bergamini C and Ciani
            E.
  TITLE     Cardiac Functional and Structural Abnormalities in a Mouse Model of
            CDKL5 Deficiency Disorder
  JOURNAL   Int J Mol Sci 24 (6), 5552 (2023)
   PUBMED   36982627
  REMARK    GeneRIF: Cardiac Functional and Structural Abnormalities in a Mouse
            Model of CDKL5 Deficiency Disorder.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3246)
  AUTHORS   De Rosa R, Valastro S, Cambria C, Barbiero I, Puricelli C, Tramarin
            M, Randi S, Bianchi M, Antonucci F and Kilstrup-Nielsen C.
  TITLE     Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be
            Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether
  JOURNAL   Int J Mol Sci 24 (1), 68 (2022)
   PUBMED   36613509
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3246)
  AUTHORS   Viglione A, Sagona G, Carrara F, Amato G, Totaro V, Lupori L,
            Putignano E, Pizzorusso T and Mazziotti R.
  TITLE     Behavioral impulsivity is associated with pupillary alterations and
            hyperactivity in CDKL5 mutant mice
  JOURNAL   Hum Mol Genet 31 (23), 4107-4120 (2022)
   PUBMED   35861639
  REMARK    GeneRIF: Behavioral impulsivity is associated with pupillary
            alterations and hyperactivity in CDKL5 mutant mice.
REFERENCE   4  (bases 1 to 3246)
  AUTHORS   Fuchs C, Cosentino L, Urbinati C, Talamo MC, Medici G, Quattrini
            MC, Mottolese N, Pietraforte D, Fuso A, Ciani E and De Filippis B.
  TITLE     Treatment with FRAX486 rescues neurobehavioral and metabolic
            alterations in a female mouse model of CDKL5 deficiency disorder
  JOURNAL   CNS Neurosci Ther 28 (11), 1718-1732 (2022)
   PUBMED   35932179
REFERENCE   5  (bases 1 to 3246)
  AUTHORS   Zlatic SA, Duong D, Gadalla KKE, Murage B, Ping L, Shah R, Fink JJ,
            Khwaja O, Swanson LC, Sahin M, Rayaprolu S, Kumar P, Rangaraju S,
            Bird A, Tarquinio D, Carpenter R, Cobb S and Faundez V.
  TITLE     Convergent cerebrospinal fluid proteomes and metabolic ontologies
            in humans and animal models of Rett syndrome
  JOURNAL   iScience 25 (9), 104966 (2022)
   PUBMED   36060065
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3246)
  AUTHORS   Rusconi L, Salvatoni L, Giudici L, Bertani I, Kilstrup-Nielsen C,
            Broccoli V and Landsberger N.
  TITLE     CDKL5 expression is modulated during neuronal development and its
            subcellular distribution is tightly regulated by the C-terminal
            tail
  JOURNAL   J Biol Chem 283 (44), 30101-30111 (2008)
   PUBMED   18701457
  REMARK    GeneRIF: CDKL5 expression is modulated during neuronal development
            and its subcellular distribution is tightly regulated by the
            C-terminal tail
REFERENCE   7  (bases 1 to 3246)
  AUTHORS   Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L,
            Badaracco G, Landsberger N and Kilstrup-Nielsen C.
  TITLE     Functional consequences of mutations in CDKL5, an X-linked gene
            involved in infantile spasms and mental retardation
  JOURNAL   J Biol Chem 281 (42), 32048-32056 (2006)
   PUBMED   16935860
  REMARK    GeneRIF: CDKL5 phosphorylation is required for its entrance into
            the nucleus whereas a portion of the COOH-terminal domain is
            responsible for a stable residency in this cellular compartment
            probably through protein-protein interactions
REFERENCE   8  (bases 1 to 3246)
  AUTHORS   Lin C, Franco B and Rosner MR.
  TITLE     CDKL5/Stk9 kinase inactivation is associated with neuronal
            developmental disorders
  JOURNAL   Hum Mol Genet 14 (24), 3775-3786 (2005)
   PUBMED   16330482
REFERENCE   9  (bases 1 to 3246)
  AUTHORS   Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R,
            Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri
            P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A,
            Kilstrup-Nielsen C and Landsberger N.
  TITLE     CDKL5 belongs to the same molecular pathway of MeCP2 and it is
            responsible for the early-onset seizure variant of Rett syndrome
  JOURNAL   Hum Mol Genet 14 (14), 1935-1946 (2005)
   PUBMED   15917271
REFERENCE   10 (bases 1 to 3246)
  AUTHORS   Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M,
            Consalez G, Trump D, Ballabio A and Franco B.
  TITLE     Identification and characterization of a novel serine-threonine
            kinase gene from the Xp22 region
  JOURNAL   Genomics 51 (3), 427-433 (1998)
   PUBMED   9721213
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY291331.1 and AK139220.1.
            
            [WARNING] On May 19, 2023 this sequence was replaced by
            NM_001024624.3.
            
            On Feb 6, 2008 this sequence version replaced NM_001024624.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK139220.1, SRR17253011.1589904.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                BY291331.1         2-30
            30-3246             AK139220.1         2-3218
FEATURES             Location/Qualifiers
     source          1..3246
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 73.95 cM"
     gene            1..3246
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /note="cyclin dependent kinase like 5"
                     /db_xref="GeneID:382253"
                     /db_xref="MGI:MGI:1278336"
     exon            1..91
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            92..322
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            323..357
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            358..403
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            404..540
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            541..661
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            662..721
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            722..812
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            813..1002
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1083
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1235
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..2202
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..2304
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            2305..2410
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            2411..2534
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            2535..2634
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            2635..2754
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            2755..2971
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
     exon            2972..3246
                     /gene="Cdkl5"
                     /gene_synonym="Stk9"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gattacttgt cgctgccgct agggaaggta aagcggtgac ggcggccgcg agagtgaagg
       61 cttccccgat agaggtgggg gactcggcag gggactcagt taatactgca cagttgaaca
      121 aatgtatgaa ggttccttgc caaccattga gaatttcttc gttgggacat tatttccctg
      181 cttactgaat aacttgttta gacgtttctt ttttggtgcc atgttctgtg gctcacatca
      241 aaagaggagt ttgtcttcat gaagattcct aacattggta atgtgatgaa taaatttgag
      301 atccttgggg ttgtcggtga aggagcctat ggagttgtac ttaaatgcag acacaaggaa
      361 acacatgaaa ttgtggcaat caagaaattc aaggacagcg aagaaaatga agaagtcaag
      421 gagacgacct tacgagagct taaaatgctt cgcactctca agcaggaaaa cattgtggag
      481 ctgaaggaag cttttcgtcg gagaggaaaa ttatacctgg tgtttgaata tgttgagaag
      541 aatatgcttg aattgctgga agaaatgcca aatggagttc cacctgaaaa agtcaagagc
      601 tatatctacc aactaatcaa agctatccac tggtgccaca agaacgacat cgtccacaga
      661 gatataaagc ctgaaaatct cttaatcagc cacaatgatg tcctgaaact atgtgacttt
      721 ggttttgctc gcaatctctc agagggcaat aatgctaatt atacagagta tgtggctaca
      781 aggtggtacc gatccccaga actgctactt ggagccccct atggaaagtc agtggacatg
      841 tggtcagtgg gctgtattct tggagagctt agtgatggcc agcccttatt tcctggagaa
      901 agtgaaattg accaactctt tactattcag aaggtgctag gaccacttcc atctgagcaa
      961 atgaagctct tctacagtaa ccctcgtttc catgggctcc ggttcccagc tgttaaccat
     1021 cctcagtcat tagagagaag ataccttgga attttaaata gtgttttact tgacctaatg
     1081 aagaatttac tgaagttgga cccagctgac agatacttga cagagcagtg tttaaatcat
     1141 cctacatttc agactcagag acttttggac cggtctcctt caagatcaac aaaaaggaaa
     1201 ccttatcatg tggaaagcag caccctgtct aatagaaacc aatccaccaa gggtgctgcc
     1261 ttacagactc accacagatc caacagcaag gacattcaga acttaagtgt gggtctgccc
     1321 agggctgagg aaggcctgcc tgcaaacgaa agcttcctca atggaaacct tgctggagca
     1381 actctcagcc caatgcacac caaaacctac caagcaagca cccagcctgg ctcttccagc
     1441 aaagatctca caaacaacaa cataccacac cttctcagtc caaaagaagc caagtccaaa
     1501 acagagtttg acttcaatat tgacacaaag ccttcagaag gtccaggcac aaagtacctc
     1561 aagtccagca ccagatctca gcagaacagg cactcattca tggaaagctc ccagagcaaa
     1621 gctgggaccc tgcagcccag tgagaagcag agtcggcaca gctatattga caccattccc
     1681 cagtcctccc ggagtccatc ctacaggaca aaggccaaaa gccatggggc gttgagtgac
     1741 tccaagtctg tgagcaacct ttccgaagcc agagcccaaa tcacagagac taataccagt
     1801 agatacttcc catccagttg tttggacttg aactctccca ccagcccaac ccccaccagg
     1861 cacactgata cgagaacttt gctcagccct tccggtcgaa ataatagaaa tgaaggcact
     1921 ctggactcac ggcgaaccac cactagacac tcaaaaacca tggaggagtt gaagctgcct
     1981 gaacacatgg acagcagcca ttcgcattca ctgtctgcac ctcatgaatc attttcttat
     2041 gggctaggct acaccagccc cttctcctct cagcagcgtc ctcacaggca ttccatgtac
     2101 gtgacccggg acaaagtgag agcgaaaggc cttgatggaa gcttgagcat aggacaaggg
     2161 atggcagcca gagccaacag tttgcagctc ttatcacccc agcctggaga acagctccct
     2221 ccagagatga ctgtggcaag accttctgtt aaagagtcct cccgagaagg cgcctcttca
     2281 ttccacaccc gtcagaagtc tgagggtgga gtataccatg acccacactc tgacgacggc
     2341 acagctccca aagaaaatcg gcatctgtac aatgaccctg tcccaaggag agttggtagc
     2401 ttttatagag tgccatctcc acgaccagac aattctttcc atgaaaataa tgtgtccact
     2461 cgagtttctt ctctgccatc tgatagcagt tctggtacaa atcattcaaa aagacaacca
     2521 ggatttgatc catggaaaag tcctgaaaac attagtcatg ccgatcaact caaagaaaag
     2581 gagaagcaag gttttttcag gtcaatgaaa aagaaaaaga agaaaactca aacagtgccc
     2641 aacactgacg gtcctgatct attgacctta cagaaagcca ttcattcttc tagcactgca
     2701 agcagcagac caaaggagtg gcgacctgag aagctctcag atctacagac ccagagccaa
     2761 ccactaaaat ctcttcgaaa gctgttgcat ctgtcttcat caaccaatca tccagcttct
     2821 tcagatcctc ggttccagcc cttaacagct caacaagcca aaaattcctt ctcagaaatt
     2881 cggattcacc ctctgagtca ggccactggt gggagcagca acatccggca ggagcctaca
     2941 ccaaaaggca gaccagccct tcagttgcca ggatcttccc tcttaaggta caacggatgg
     3001 aaacactcaa gatcaagatc cagccagcca gacgaagtga tcttcttggc atcccatgag
     3061 aaatggaaac agtgaccaac aaacgccttc cagaagtttg agcctagtct tgctactgtg
     3121 aatctttcac aaaacatcca gttaccatga ggaaccgacc atttcacact gacgtggttt
     3181 tcttcctttc tacctgaaaa tatctgtgtt gctagaagaa atagactata aaaagtacac
     3241 ttatgc
//
