Aliases for CDK5R1 Gene
Aliases for CDK5R1 Gene
- Cyclin Dependent Kinase 5 Regulatory Subunit 1 2 3 5
- TPKII Regulatory Subunit 3 4
- CDK5 Activator 1 3 4
- CDK5R 3 4
- NCK5A 3 4
- Cyclin-Dependent Kinase 5, Regulatory Subunit 1 (P35) 2
- Cyclin-Dependent Kinase 5 Regulatory Subunit 1 4
- Cyclin-Dependent Kinase 5 Activator 1 3
- Tau Protein Kinase II 23kDa Subunit 3
External Ids for CDK5R1 Gene
- HGNC: 1775
- Entrez Gene: 8851
- Ensembl: ENSG00000176749
- OMIM: 603460
- UniProtKB: Q15078
Previous GeneCards Identifiers for CDK5R1 Gene
- GC17P030580
- GC17P032848
- GC17P030959
- GC17P027838
- GC17P030813
- GC17P027000
Summaries for CDK5R1 Gene
-
The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]
GeneCards Summary for CDK5R1 Gene
CDK5R1 (Cyclin Dependent Kinase 5 Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with CDK5R1 include Alzheimer Disease and Non-Syndromic Intellectual Disability. Among its related pathways are Semaphorin interactions and Gene Expression. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein kinase binding. An important paralog of this gene is CDK5R2.
UniProtKB/Swiss-Prot for CDK5R1 Gene
-
p35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at Thr-451 and Thr-461 and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution.
Additional gene information for CDK5R1 Gene
- Monarch Initiative
- Search for CDK5R1 at DataMed
- Search for CDK5R1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDK5R1 Gene
Genomics for CDK5R1 Gene
GeneHancer (GH) Regulatory Elements for CDK5R1 Gene
Promoters and enhancers for CDK5R1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CDK5R1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CDK5R1 Gene
Genomic Locations for CDK5R1 Gene
- chr17:32,486,619-32,491,256
- (GRCh38/hg38)
- Size:
- 4,638 bases
- Orientation:
- Plus strand
- chr17:30,813,637-30,818,274
- (GRCh37/hg19)
Genomic View for CDK5R1 Gene
Genes around CDK5R1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q11.2 by Ensembl
- 17q11.2 by Entrez Gene
- 17q11.2 by HGNC
CDK5R1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CDK5R1 Gene
Proteins for CDK5R1 Gene
-
Protein details for CDK5R1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15078-CD5R1_HUMAN
- Recommended name:
- Cyclin-dependent kinase 5 activator 1
- Protein Accession:
- Q15078
- E1P664
- Q5U0G3
Protein attributes for CDK5R1 Gene
- Size:
- 307 amino acids
- Molecular mass:
- 34060 Da
- Quaternary structure:
-
- Heterodimer composed of a catalytic subunit CDK5 and a regulatory subunit CDK5R1 (p25) and macromolecular complex composed of at least CDK5, CDK5R1 (p35) and CDK5RAP1 or CDK5RAP2 or CDK5RAP3. Only the heterodimer shows kinase activity. Interacts with EPHA4 and NGEF; may mediate the activation of NGEF by EPHA4 (By similarity). Interacts with RASGRF2. The complex p35/CDK5 interacts with CLOCK.
- Miscellaneous:
-
- Cleavage of p35 to p25 may be involved in the pathogenesis of cytoskeletal abnormalities and neuronal death in neurodegenerative diseases. The p25 form accumulates in neurons in the brain of patients with Alzheimer disease, but not in normal brain. This accumulation correlates with an increase in CDK5 kinase activity. Application of amyloid beta peptide A-beta(1-42) induced the conversion of p35 to p25 in primary cortical neurons. Expression of the p25/Cdk5 complex in cultured primary neurons induces cytoskeletal disruption, morphological degeneration and apoptosis.
Protein Expression for CDK5R1 Gene
Post-translational modifications for CDK5R1 Gene
- Myristoylated. A proper myristoylation signal is essential for the proper distribution of p35.
- Phosphorylation at Ser-8 and Thr-138 by CDK5 prevents calpain-mediated proteolysis.
- The p35 form is proteolytically cleaved by calpain, giving rise to the p25 form. P35 has a 5 to 10 fold shorter half-life compared to p25. The conversion results in deregulation of the CDK5 kinase: p25/CDK5 kinase displays an increased and altered tau phosphorylation in comparison to the p35/CDK5 kinase in vivo (By similarity).
- Ubiquitinated. Degradation of p35 by proteasome results in down-regulation of CDK5 activity. During this process, CDK5 phosphorylates p35 and induces its ubiquitination and subsequent degradation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CDK5R1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CDK5R1 (CDK5 Activator 1)
-
Custom Antibody ServicesOriGene Antibodies for CDK5R1
- Novus Biologicals Antibodies for CDK5R1
-
Abcam antibodies for CDK5R1
- Invitrogen Antibodies for CDK5R1
- antibodies-online: Search results for 105 available CDK5R1 Antibodies ranked by validation data
- Compare Top CDK5R1 Antibodies
-
Recommended
- 69 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IP Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 42 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 69 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IP Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 42 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex CDK5R1 antibody for CDK5R1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CDK5R1
Protein Products
-
OriGene Purified Proteins for CDK5R1
- Search Origene for MassSpec and Protein Over-expression Lysates for CDK5R1
- Origene Custom Protein Services for CDK5R1
- Search GeneTex for Proteins for CDK5R1
-
Abcam proteins for CDK5R1
Assay Products
No data available for DME Specific Peptides for CDK5R1 Gene
Domains & Families for CDK5R1 Gene
Gene Families for CDK5R1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CDK5R1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CDK5R1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q15078- Family:
-
- Belongs to the cyclin-dependent kinase 5 activator family.
Function for CDK5R1 Gene
Molecular function for CDK5R1 Gene
- GENATLAS Biochemistry:
- cyclin-dependent kinase 5 regulatory subunit1,short lived molecule specifically expressed in neuronal cells,constitutively expressed after cleavage,associating and activating the CDK5 p25 complex with a resulting hyperphorylation of tau,which reduces taus ability to associate with microtubules,and may be involved in the pathogenesis of neurodegenerative diseases
- UniProtKB/Swiss-Prot Function:
- p35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at Thr-451 and Thr-461 and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution.
Phenotypes From GWAS Catalog for CDK5R1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IEA | -- |
| GO:0004672 | protein kinase activity | TAS | 7592934 |
| GO:0005509 | calcium ion binding | IEA,ISS | -- |
| GO:0005515 | protein binding | IPI | 10721722 |
| GO:0016301 | kinase activity | IEA,ISS | -- |
Phenotypes for CDK5R1 Gene
- MGI mutant phenotypes for CDK5R1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for CDK5R1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CDK5R1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CDK5R1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5R1 gene
- Search ViGene Biosciences for CDK5R1
CRISPR Products
-
OriGene CRISPR knockouts for CDK5R1
- genomics-online: gRNA clones - Search results for 151 available CDK5R1 gene related products
- Overview of 151 available CDK5R1 gene related products
- Applied Biological Materials CRISPR for CDK5R1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK5R1
- GenScript: Design CRISPR guide RNA sequences for CDK5R1
miRNA for CDK5R1 Gene
- miRTarBase miRNAs that target CDK5R1
-
- hsa-mir-26b-5p (MIRT029817)
- hsa-mir-196b-5p (MIRT042678)
- hsa-mir-1207-5p (MIRT054108)
- hsa-mir-25-3p (MIRT250939)
- hsa-mir-32-5p (MIRT250940)
- hsa-mir-92a-3p (MIRT250941)
- hsa-mir-363-3p (MIRT250942)
- hsa-mir-367-3p (MIRT250943)
- hsa-mir-92b-3p (MIRT250944)
- hsa-mir-548d-3p (MIRT250945)
- hsa-mir-548h-3p (MIRT250946)
- hsa-mir-548t-3p (MIRT250947)
- hsa-mir-548v (MIRT250948)
- hsa-mir-548z (MIRT250949)
- hsa-mir-548aa (MIRT250950)
- hsa-mir-548ac (MIRT250951)
- hsa-mir-548ap-3p (MIRT250952)
- hsa-mir-548bb-3p (MIRT250954)
- hsa-mir-186-5p (MIRT286706)
- hsa-mir-6507-5p (MIRT286719)
- hsa-mir-4325 (MIRT548926)
- hsa-mir-7703 (MIRT548927)
- hsa-mir-5587-5p (MIRT558809)
- hsa-mir-133a-3p (MIRT558810)
- hsa-mir-133b (MIRT558811)
miRNA Products
- Search ViGene Biosciences for CDK5R1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK5R1
- Browse OriGene Inhibitory RNA Products For CDK5R1
- genomics-online: shRNA clones - Search results for 151 available CDK5R1 gene related products
- Overview of 151 available CDK5R1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5R1 gene
Clone Products
- Sino Biological Human cDNA Clone for CDK5R1
- VectorBuilder custom plasmid, inducible vectors for CDK5R1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDK5R1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CDK5R1
- Applied Biological Materials Clones for CDK5R1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CDK5R1
-
ViGene Biosciences adenoviral particle packaged cDNA for CDK5R1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CDK5R1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5R1 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDK5R1 Gene
Localization for CDK5R1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CDK5R1 Gene
- Cyclin-dependent kinase 5 activator 1, p35: Cell membrane; Lipid-anchor; Cytoplasmic side. Note=In the primary cortical neurons, p35 is present in the peripheries and nerve terminals.
- Cyclin-dependent kinase 5 activator 1, p25: Nucleus. Cytoplasm, perinuclear region. Note=The conversion of p35 to p25 relocalizes the protein from the cell periphery to the cytoplasm, in nuclear and perinuclear regions. In the primary cortical neurons, p25 is primarily concentrated in the cell soma and is largely absent from neurites.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| cytoskeleton | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005874 | colocalizes_with microtubule | ISS | -- |
Pathways & Interactions for CDK5R1 Gene
Pathways by source for CDK5R1 Gene
1 GeneTex pathway for CDK5R1 Gene
7 BioSystems pathways for CDK5R1 Gene
12 Reactome pathways for CDK5R1 Gene
2 KEGG pathways for CDK5R1 Gene
3 GeneGo (Thomson Reuters) pathways for CDK5R1 Gene
5 Qiagen pathways for CDK5R1 Gene
1 Cell Signaling Technology pathway for CDK5R1 Gene
Interacting Proteins for CDK5R1 Gene
Selected Interacting proteins:
ENSP00000318486
Q15078-CD5R1_HUMAN
for CDK5R1 Gene via
STRING
UniProtKB
IID
SIGNOR curated interactions for CDK5R1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | TAS | 7592934 |
| GO:0000226 | microtubule cytoskeleton organization | TAS | 17491008 |
| GO:0001764 | neuron migration | ISS,IEA | -- |
| GO:0007158 | neuron cell-cell adhesion | ISS,IEA | -- |
| GO:0007213 | G-protein coupled acetylcholine receptor signaling pathway | ISS,IEA | -- |
Drugs & Compounds for CDK5R1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| 6-PHENYL[5H]PYRROLO[2,3-B]PYRAZINE | Experimental | Pharma | Target | 0 | ||
| Indirubin-3'-Monoxime | Experimental | Pharma | Target | 0 | ||
| AT7519 | Investigational | Pharma | Multi-CDK inhibitor | 0 | ||
| Kenpaullone | Pharma | 0 | ||||
| ML167 | Pharma | Clk4 inhibitor,highly selective | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(8) ApexBio Compounds for CDK5R1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| AT7519 | Multi-CDK inhibitor | 844442-38-2 |
| Kenpaullone | 142273-20-9 | |
| ML167 | Clk4 inhibitor,highly selective | 1285702-20-6 |
| Nu 6027 | ATR/CDK inhibitor, potent and selective | 220036-08-8 |
| PHA-848125 | CDK inhibitor,potent and ATP-competitive | 802539-81-7 |
| Purvalanol B | CDK1/CDK2/CDK4 inhibitor | 212844-54-7 |
| R547 | CDK1/2/4 inhibitor,ATP-competitive | 741713-40-6 |
| Ro 3306 | An ATP-competitive, potent CDK1 inhibitor | 872573-93-8 |
Transcripts for CDK5R1 Gene
mRNA/cDNA for CDK5R1 Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (126) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CDK5R1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CDK5R1
- genomics-online: gRNA clones - Search results for 151 available CDK5R1 gene related products
- Overview of 151 available CDK5R1 gene related products
- Applied Biological Materials CRISPR for CDK5R1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK5R1
- GenScript: Design CRISPR guide RNA sequences for CDK5R1
miRNA Products
- Search ViGene Biosciences for CDK5R1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK5R1
- Browse OriGene Inhibitory RNA Products For CDK5R1
- genomics-online: shRNA clones - Search results for 151 available CDK5R1 gene related products
- Overview of 151 available CDK5R1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5R1 gene
Clone Products
- Sino Biological Human cDNA Clone for CDK5R1
- VectorBuilder custom plasmid, inducible vectors for CDK5R1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDK5R1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CDK5R1
- Applied Biological Materials Clones for CDK5R1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CDK5R1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Hypothalamus
- Cerebellum
- Amygdala
- Striatum
- Neural Tube (Nervous System)
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Thymus (Hematopoietic System)
- T-Cytotoxic Cells Thymus
-
Blood (Cardiovascular System)
- T-Cytotoxic Cells Thymus
mRNA differential expression in normal tissues according to GTEx for CDK5R1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.8), Brain - Anterior cingulate cortex (BA24) (x5.9), Brain - Cortex (x5.2), and Brain - Hippocampus (x4.1).
This gene is overexpressed in Urine (68.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CDK5R1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CDK5R1 Gene:
CDK5R1SOURCE GeneReport for Unigene cluster for CDK5R1 Gene:
Hs.500015mRNA Expression by UniProt/SwissProt for CDK5R1 Gene:
Q15078-CD5R1_HUMAN
Tissue specificity:
Brain and neuron specific.
Evidence on tissue expression from TISSUES for CDK5R1 Gene
- Nervous system(5)
Primer Products
-
OriGene qPCR primer pairs and template standards for CDK5R1
-
OriGene qPCR primer pairs for CDK5R1
- genomics-online: primer clones - Search results for 151 available CDK5R1 gene related products
- Overview of 151 available CDK5R1 gene related products
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CDK5R1 Gene
Orthologs for CDK5R1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CDK5R1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CDK5R1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CDK5R1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cdk5r1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cdk5r1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CDK5R1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CDK5R1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cdk5r1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | cdk5r1-A-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cdk5r1b 33 34 |
|
||
| cdk5r1a 34 |
|
OneToMany | |||
| CDK5R1 (1 of 3) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Cdk5alpha 35 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | T23F11.3 35 |
|
|
|
| cdka-1 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for CDK5R1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for CDK5R1 Gene
(1) SIMAP similar genes for CDK5R1 Gene using alignment to 4 proteins:
Variants for CDK5R1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000018686 | -- | 32,487,002(+) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000115964 | -- | 32,489,966(+) | A/T | 3_prime_UTR_variant | |
| rs1001557776 | -- | 32,485,990(+) | C/G | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs1001899426 | -- | 32,491,718(+) | A/G | downstream_transcript_variant | |
| rs1001945565 | -- | 32,490,963(+) | C/T | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5524n54 | CNV | gain | 21841781 |
| dgv5525n54 | CNV | gain+loss | 21841781 |
| dgv5526n54 | CNV | loss | 21841781 |
| esv21464 | CNV | loss | 19812545 |
| nsv1070399 | CNV | deletion | 25765185 |
| nsv1121934 | CNV | deletion | 24896259 |
| nsv519839 | CNV | loss | 19592680 |
| nsv574697 | CNV | loss | 21841781 |
| nsv574698 | CNV | gain | 21841781 |
| nsv574706 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.17;
3.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CDK5R1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK5R1 Gene
Disorders for CDK5R1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease |
|
|
| non-syndromic intellectual disability |
|
|
| syndromic intellectual disability |
|
|
Search CDK5R1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CDK5R1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CDK5R1 Gene
Publications for CDK5R1 Gene
- Epistasis between tau phosphorylation regulating genes (CDK5R1 and GSK-3beta) and Alzheimer's disease risk. (PMID: 19154537) Mateo I … Combarros O (Acta neurologica Scandinavica 2009) 3 22 44 58
- Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation. (PMID: 16425041) Venturin M … Riva P (Neurogenetics 2006) 3 22 44 58
- Conversion of p35 to p25 deregulates Cdk5 activity and promotes neurodegeneration. (PMID: 10604467) Patrick GN … Tsai LH (Nature 1999) 3 4 22 58
- p35 is a neural-specific regulatory subunit of cyclin-dependent kinase 5. (PMID: 8090221) Tsai LH … Harlow E (Nature 1994) 2 3 4 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
Products for CDK5R1 Gene
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