Cdkl5 cyclin dependent kinase like 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cdkl5provided by MGI
Official Full Name: cyclin dependent kinase like 5provided by MGI
Primary source: MGI:MGI:1278336
See related: Ensembl:ENSMUSG00000031292 AllianceGenome:MGI:1278336
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Stk9
Summary: Predicted to enable ATP binding activity; protein kinase activity; and small GTPase binding activity. Acts upstream of or within protein localization to nucleus. Predicted to be located in several cellular components, including ciliary tip; dendritic growth cone; and microtubule organizing center. Predicted to be active in dendrite cytoplasm; glutamatergic synapse; and nucleus. Predicted to colocalize with ruffle membrane. Is expressed in several structures, including brain; genitourinary system; liver; lung; and spleen. Used to study developmental and epileptic encephalopathy 2. Human ortholog(s) of this gene implicated in Rett syndrome; developmental and epileptic encephalopathy 2; intellectual disability; and visual epilepsy. Orthologous to human CDKL5 (cyclin dependent kinase like 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cortex adult (RPKM 5.5), frontal lobe adult (RPKM 4.3) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F4; X 73.95 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (159567241..159777673, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (160784308..160994681, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CDKL5 regulates p62-mediated selective autophagy and confers protection against neurotropic viruses.
Title: CDKL5 regulates p62-mediated selective autophagy and confers protection against neurotropic viruses.
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
Title: Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome.
Title: CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome.
CDKL5 deficiency in adult glutamatergic neurons alters synaptic activity and causes spontaneous seizures via TrkB signaling.
Title: CDKL5 deficiency in adult glutamatergic neurons alters synaptic activity and causes spontaneous seizures via TrkB signaling.
Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder.
Title: Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder.
Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Title: Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice.
Title: Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice.
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency.
Title: Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency.
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.
Title: Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.
Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder.
Title: Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Gene trapped (1)
Targeted (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables cyclin-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables kinase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in modulation of chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in neuron migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon extension	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendritic spine development	ISO Inferred from Sequence Orthology more info
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of dendrite development	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dendrite development	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary tip	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in dendrite cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendritic growth cone	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density, intracellular component	ISO Inferred from Sequence Orthology more info
colocalizes_with ruffle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cyclin-dependent kinase-like 5

Names: serine/threonine kinase 9

NP_001019795.1

EC 2.7.11.22

NP_001408452.1

EC 2.7.11.22

NP_001408453.1

EC 2.7.11.22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001024624.3 → NP_001019795.1 cyclin-dependent kinase-like 5 isoform 3

See identical proteins and their annotated locations for NP_001019795.1

Status: VALIDATED

Source sequence(s)

AL669939, AL670462

Consensus CDS

CCDS53238.1

UniProtKB/Swiss-Prot

Q05BK3, Q3UTQ8, Q8BWI8

UniProtKB/TrEMBL

A0A0G2JF79

Related

ENSMUSP00000084342.5, ENSMUST00000087104.11

Conserved Domains (2) summary

smart00220
Location:13 → 297

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd07848
Location:11 → 297

STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
NM_001421523.1 → NP_001408452.1 cyclin-dependent kinase-like 5 isoform 2

Status: VALIDATED

Source sequence(s)

AL669939, AL670462

UniProtKB/TrEMBL

A0A0G2JGW6

Related

ENSMUSP00000143726.2, ENSMUST00000198931.2
NM_001421524.1 → NP_001408453.1 cyclin-dependent kinase-like 5 isoform 1

Status: VALIDATED

Source sequence(s)

AL669939, AL670462