LOCUS NP_003150 1030 aa linear PRI 25-DEC-2023
DEFINITION cyclin-dependent kinase-like 5 isoform 1 [Homo sapiens].
ACCESSION NP_003150
VERSION NP_003150.1
DBSOURCE REFSEQ: accession NM_003159.3
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1030)
AUTHORS Sampedro-Castaneda M, Baltussen LL, Lopes AT, Qiu Y, Sirvio L,
Mihaylov SR, Claxton S, Richardson JC, Lignani G and Ultanir SK.
TITLE Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium
channel Cav2.3, altering inactivation kinetics and neuronal
excitability
JOURNAL Nat Commun 14 (1), 7830 (2023)
PUBMED 38081835
REMARK GeneRIF: Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated
calcium channel Cav2.3, altering inactivation kinetics and neuronal
excitability.
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 1030)
AUTHORS Liao W and Lee KZ.
TITLE CDKL5-mediated developmental tuning of neuronal excitability and
concomitant regulation of transcriptome
JOURNAL Hum Mol Genet 32 (23), 3276-3298 (2023)
PUBMED 37688574
REMARK GeneRIF: CDKL5-mediated developmental tuning of neuronal
excitability and concomitant regulation of transcriptome.
REFERENCE 3 (residues 1 to 1030)
AUTHORS Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED,
Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J,
Rajaraman R, VanderVeen G, Benke TA, Downs J and Demarest S.
TITLE The development, content and response process validation of a
caregiver-reported severity measure for CDKL5 deficiency disorder
JOURNAL Epilepsy Res 197, 107231 (2023)
PUBMED 37751639
REMARK GeneRIF: The development, content and response process validation
of a caregiver-reported severity measure for CDKL5 deficiency
disorder.
REFERENCE 4 (residues 1 to 1030)
AUTHORS Specchio N, Trivisano M, Lenge M, Ferretti A, Mei D, Parrini E,
Napolitano A, Rossi-Espagnet C, Talenti G, Longo D, Proietti J,
Ragona F, Freri E, Solazzi R, Granata T, Darra F, Bernardina BD,
Vigevano F and Guerrini R.
TITLE CDKL5 deficiency disorder: progressive brain atrophy may be part of
the syndrome
JOURNAL Cereb Cortex 33 (17), 9709-9717 (2023)
PUBMED 37429835
REMARK GeneRIF: CDKL5 deficiency disorder: progressive brain atrophy may
be part of the syndrome.
REFERENCE 5 (residues 1 to 1030)
AUTHORS Aznar-Lain G, Fernandez-Mayoralas DM, Caicoya AG, Rocamora R and
Perez-Jurado LA.
TITLE CDKL5 Deficiency Disorder Without Epilepsy
JOURNAL Pediatr Neurol 144, 84-89 (2023)
PUBMED 37201242
REMARK GeneRIF: CDKL5 Deficiency Disorder Without Epilepsy.
REFERENCE 6 (residues 1 to 1030)
AUTHORS Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud
M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH and
Kalscheuer VM.
TITLE Mutations in the X-linked cyclin-dependent kinase-like 5
(CDKL5/STK9) gene are associated with severe neurodevelopmental
retardation
JOURNAL Am J Hum Genet 75 (6), 1149-1154 (2004)
PUBMED 15499549
REFERENCE 7 (residues 1 to 1030)
AUTHORS Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL,
Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H,
Ellaway CJ, Bennetts B, Leonard H and Gecz J.
TITLE Mutations of CDKL5 cause a severe neurodevelopmental disorder with
infantile spasms and mental retardation
JOURNAL Am J Hum Genet 75 (6), 1079-1093 (2004)
PUBMED 15492925
REMARK GeneRIF: CDKL5 mutations are associated with epilepsy, X-linked
mental retardation and a clinical phenotype that overlaps Rett
syndrome.
REFERENCE 8 (residues 1 to 1030)
AUTHORS Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S,
Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E,
Sutherland GR, Ropers HH 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 9 (residues 1 to 1030)
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
REFERENCE 10 (residues 1 to 1030)
AUTHORS Krause SW, Rehli M, Kreutz M, Schwarzfischer L, Paulauskis JD and
Andreesen R.
TITLE Differential screening identifies genetic markers of monocyte to
macrophage maturation
JOURNAL J Leukoc Biol 60 (4), 540-545 (1996)
PUBMED 8864140
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC010966.1, AY217744.1 and
AI286150.1.
Summary: This gene is a member of Ser/Thr protein kinase family and
encodes a phosphorylated protein with protein kinase activity.
Mutations in this gene have been associated with X-linked infantile
spasm syndrome (ISSX), also known as X-linked West syndrome, and
Rett syndrome (RTT). Alternate transcriptional splice variants have
been characterized. [provided by RefSeq, Jul 2008].
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 :: AY217744.1, Y15057.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1968968, SAMEA2148093
[ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..1030
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp22.13"
Protein 1..1030
/product="cyclin-dependent kinase-like 5 isoform 1"
/EC_number="2.7.11.22"
/note="serine/threonine kinase 9; serine/threonine-protein
kinase 9; cyclin dependent kinase 5 transcript"
/calculated_mol_wt=115407
Region 11..297
/region_name="STKc_CDKL5"
/note="Catalytic domain of the Serine/Threonine Kinase,
Cyclin-Dependent protein Kinase Like 5; cd07848"
/db_xref="CDD:270838"
Site order(19..23,27,40,42,59,73,89..92,95,97..98,135,137,
139..140,142,153,156,169,171..174,176,213)
/site_type="active"
/db_xref="CDD:270838"
Site order(19..23,27,40,42,73,89..92,95,135,137,139..140,142,
153)
/site_type="other"
/note="ATP binding site [chemical binding]"
/db_xref="CDD:270838"
Site order(59,97,135,137,156,169,171..174,176,213)
/site_type="other"
/note="polypeptide substrate binding site [polypeptide
binding]"
/db_xref="CDD:270838"
Site 152..176
/site_type="other"
/note="activation loop (A-loop)"
/db_xref="CDD:270838"
Region 300..349
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (O76039.2)"
Region 382..566
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (O76039.2)"
Site 407
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:18669648,
ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
ECO:0007744|PubMed:20068231; propagated from
UniProtKB/Swiss-Prot (O76039.2)"
Site 479
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (O76039.2)"
Region 646..834
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (O76039.2)"
Site 720
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:19369195,
ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (O76039.2)"
Site 761
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:18691976; propagated from
UniProtKB/Swiss-Prot (O76039.2)"
CDS 1..1030
/gene="CDKL5"
/gene_synonym="CFAP247; DEE2; EIEE2; ISSX; STK9"
/coded_by="NM_003159.3:251..3343"
/note="isoform 1 is encoded by transcript variant I"
/db_xref="CCDS:CCDS14186.1"
/db_xref="GeneID:6792"
/db_xref="HGNC:HGNC:11411"
/db_xref="MIM:300203"
ORIGIN
1 mkipnignvm nkfeilgvvg egaygvvlkc rhketheiva ikkfkdseen eevkettlre
61 lkmlrtlkqe nivelkeafr rrgklylvfe yveknmlell eempngvppe kvksyiyqli
121 kaihwchknd ivhrdikpen llishndvlk lcdfgfarnl segnnanyte yvatrwyrsp
181 elllgapygk svdmwsvgci lgelsdgqpl fpgeseidql ftiqkvlgpl pseqmklfys
241 nprfhglrfp avnhpqsler rylgilnsvl ldlmknllkl dpadrylteq clnhptfqtq
301 rlldrspsrs akrkpyhves stlsnrnqag kstalqshhr snskdiqnls vglpradegl
361 panesflngn lagaslsplh tktyqassqp gstskdltnn niphllspke aksktefdfn
421 idpkpsegpg tkylksnsrs qqnrhsfmes sqskagtlqp nekqsrhsyi dtipqssrsp
481 syrtkakshg alsdsksvsn lsearaqiae pstsryfpss cldlnsptsp tptrhsdtrt
541 llspsgrnnr negtldsrrt ttrhsktmee lklpehmdss hshslsaphe sfsyglgyts
601 pfssqqrphr hsmyvtrdkv rakgldgsls igqgmaaran slqllspqpg eqlppemtva
661 rssvketsre gtssfhtrqk seggvyhdph sddgtapken rhlyndpvpr rvgsfyrvps
721 prpdnsfhen nvstrvsslp sesssgtnhs krqpafdpwk spenishseq lkekekqgff
781 rsmkkkkkks qtvpnsdspd lltlqksihs astpssrpke wrpekisdlq tqsqplkslr
841 kllhlssasn hpassdprfq pltaqqtkns fseirihpls qasggssnir qepapkgrpa
901 lqlpdggcdg rrqrhhsgpq drrfmlrtte qqgeyfccgd pkkphtpcvp nralhrpiss
961 papypvlqvr gtsmcptlqv rgtdafscpt qqsgfsffvr hvmrealihr aqvnqaallt
1021 yhenaaltgk
//
