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CDK5R1 Gene

protein-coding   GIFtS: 65
GCID: GC17P030813

Cyclin-Dependent Kinase 5, Regulatory Subunit 1 (P35)

  See CDK5R1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cyclin-Dependent Kinase 5, Regulatory Subunit 1 (P35)1 2     Neuronal CDK5 Activator2
Cyclin-Dependent Kinase 5 Regulatory Subunit 12 3     p232
CDK5R2 3     p252
NCK5A2 3     p352
CDK5 Activator 12 3     p35nck5a2
TPKII Regulatory Subunit2 3     Regulatory Partner For CDK5 Kinase2
CDK5P352     Tau Protein Kinase II 23kDa Subunit2
Cyclin-Dependent Kinase 5 Activator 12     

External Ids:    HGNC: 17751   Entrez Gene: 88512   Ensembl: ENSG000001767497   OMIM: 6034605   UniProtKB: Q150783   

Export aliases for CDK5R1 gene to outside databases

Previous GC identifers: GC17P030580 GC17P032848 GC17P030959 GC17P027838 GC17P027000


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 (p35)) is a protein-coding gene. Diseases associated with CDK5R1 include tauopathy. GO annotations related to this gene include protein kinase activity and calcium ion binding. An important paralog of this gene is CDK5R2.

UniProtKB/Swiss-Prot: CD5R1_HUMAN, Q15078
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

Gene Wiki entry for CDK5R1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDK5R1 gene promoter:
         c-Fos   NF-1/L   NF-1   p53   AP-1   ATF-2   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CDK5R1 promoter sequence
   Search Chromatin IP Primers for CDK5R1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDK5R1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q12

CDK5R1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDK5R1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P030813:  view genomic region     (about GC identifiers)

Start:
30,813,637 bp from pter      End:
30,818,274 bp from pter
Size:
4,638 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CD5R1_HUMAN, Q15078 (See protein sequence)
Recommended Name: Cyclin-dependent kinase 5 activator 1 precursor  
Size: 307 amino acids; 34060 Da
Subunit: 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
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
5 PDB 3D structures from and Proteopedia for CDK5R1:
1H4L (3D)        1UNG (3D)        1UNH (3D)        1UNL (3D)        3O0G (3D)    
Secondary accessions: E1P664 Q5U0G3

Explore the universe of human proteins at neXtProt for CDK5R1: NX_Q15078

Explore proteomics data for CDK5R1 at MOPED

Post-translational modifications: 

  • 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)1
  • Myristoylated. A proper myristoylation signal is essential for the proper distribution of p351
  • 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 degradation1
  • Phosphorylation at Ser-8 and Thr-138 by CDK5 prevents calpain-mediated proteolysis1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CDK5R1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003876.1  
    ENSEMBL proteins: 
     ENSP00000318486   ENSP00000464129   ENSP00000463654  
    Reactome Protein details: Q15078

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004944 CDK5_activator
     IPR013763 Cyclin-like

    Graphical View of Domain Structure for InterPro Entry Q15078

    ProtoNet protein and cluster: Q15078

    1 Blocks protein domain: IPB004944 Cyclin-dependent kinase 5 activator

    UniProtKB/Swiss-Prot: CD5R1_HUMAN, Q15078
    Similarity: Belongs to the cyclin-dependent kinase 5 activator family


    Find genes that share domains with CDK5R1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD5R1_HUMAN, Q15078
    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

         Genatlas biochemistry entry for CDK5R1:
    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 tau's ability to associate with microtubules,and may be involved in the
    pathogenesis of neurodegenerative diseases

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity TAS7592934
    GO:0004693cyclin-dependent protein serine/threonine kinase activity IEA--
    GO:0005509calcium ion binding ISS--
    GO:0005515protein binding IPI10721722
    GO:0016301kinase activity ISS--
         
    Find genes that share ontologies with CDK5R1           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cdk5r1):
     behavior/neurological  cellular  embryogenesis  growth/size/body  integument 
     mortality/aging  nervous system 

    Find genes that share phenotypes with CDK5R1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CDK5R1: Cdk5r1tm1Ohsh Cdk5r1tm1Lht Cdk5r1tm1Ivi

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDK5R1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CDK5R1 (see all 96):
    hsa-miR-607 hsa-miR-376b hsa-miR-15a hsa-miR-199a-3p hsa-miR-4305 hsa-miR-3074-3p hsa-miR-10b* hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidCDK5R1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for CDK5R1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CD5R1_HUMAN, Q15078: Cyclin-dependent kinase 5 activator 1, p35: Cell membrane; Lipid-anchor; Cytoplasmic side
    (Probable). Note=In the primary cortical neurons, p35 is present in the peripheries and nerve terminals
    CD5R1_HUMAN, Q15078: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytoskeleton4
    cytosol4
    extracellular2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0014069postsynaptic density ISS--

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    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CDK5R1 About   (see all 19)  
    See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    2L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    3Semaphorin interactions
    Semaphorin interactions0.43
    CRMPs in Sema3A signaling0.00
    4Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    5Amphetamine addiction
    Cocaine addiction0.44


    Find genes that share SuperPaths with CDK5R1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CDK5R1
        Rac1 Pathway
    THC Differentiation Pathway
    Reelin Pathway (Cajal-Retzius cells)
    Alzheimers Disease Pathway
    CDK5 Pathway

    1 Cell Signaling Technology (CST) Pathway for CDK5R1
        Neuroscience

    3 GeneGo (Thomson Reuters) Pathways for CDK5R1
        Apoptosis and survival Role of CDK5 in neuronal death and survival
    Cytoskeleton remodeling Neurofilaments
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    Selected BioSystems Pathways for CDK5R1 (see all 7)
        BDNF signaling pathway
    IL-6 Signaling Pathway
    Alzheimers Disease
    Lissencephaly gene (LIS1) in neuronal migration and development
    Reelin signaling pathway


    1 Reactome Pathway for CDK5R1
        CRMPs in Sema3A signaling


    2 Kegg Pathways  (Kegg details for CDK5R1):
        Alzheimer's disease
    Cocaine addiction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDK5R1: 
              Neurogenesis in human mouse rat
              Cytoskeleton Regulators in human mouse rat
              Cell Cycle in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CDK5R1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CDK5R1 (Q150781, 3 ENSP000003184864) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK5Q005351, 3, ENSP000002975184EBI-746189,EBI-1041567 I2D: score=11 STRING: ENSP00000297518
    AATKQ6ZMQ8-11, ENSP000003241964EBI-746189,EBI-2008436 I2D: score=1 STRING: ENSP00000324196
    SETQ011053, ENSP000003617774I2D: score=3 STRING: ENSP00000361777
    CAMK2AQ9UQM73, ENSP000003814124I2D: score=2 STRING: ENSP00000381412
    CAPN1P073843, ENSP000002792474I2D: score=2 STRING: ENSP00000279247
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity TAS7592934
    GO:0001764neuron migration ISS--
    GO:0006468protein phosphorylation ----
    GO:0007158neuron cell-cell adhesion ISS--
    GO:0007213G-protein coupled acetylcholine receptor signaling pathway ISS--

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CDK5R1 (CD5R1)

    2 DrugBank Compounds for CDK5R1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    6-PHENYL[5H]PYRROLO[2,3-B]PYRAZINE-- --target--10592235
    Indirubin-3'-Monoxime-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for CDK5R1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    roscovitine 87.3 4 9727024 (1), 14976144 (1), 15741232 (1)
    olomoucine 64.7 1 11743029 (1)
    glycogen 40.2 7 9565682 (2), 15322121 (1), 8787836 (1), 18242949 (1)
    threonine 37.4 3 20097924 (1), 15123626 (1), 12230554 (1)
    serine 22.3 3 20097924 (1), 15123626 (1), 12230554 (1)
    1,25 dihydroxy vitamin d3 17.9 8 15289351 (4)
    retinoic acid 10.6 2 11389014 (1), 15485494 (1)
    pd 98,059 9.36 3 15695523 (1), 15485494 (1)
    oligonucleotide 0 2 9822744 (1), 11743029 (1)
    glucose 0 4 14976144 (2), 16887799 (1), 19944742 (1)



    Find genes that share compounds with CDK5R1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CDK5R1 gene: 
    NM_003885.2  

    Unigene Cluster for CDK5R1:

    Cyclin-dependent kinase 5, regulatory subunit 1 (p35)
    Hs.500015  [show with all ESTs]
    Unigene Representative Sequence: BC030792
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313401(uc002hhn.3) ENST00000584792 ENST00000584716(uc010ctc.3)

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    Additional mRNA sequence: 

    AK095754.1 BC020580.2 BC026347.1 BC030792.1 BC032081.1 BC035448.1 BT019573.1 X80343.1 

    5 DOTS entries:

    DT.450080  DT.120908893  DT.100653625  DT.92421890  DT.120908882 

    Selected AceView cDNA sequences (see all 126):

    T05015 Z39335 BU552974 BU844800 BC020580 M85817 BI870001 BE351035 
    BE892465 BC032081 AA228147 CR605929 BU579648 BM665391 BP377593 BM679531 
    F02507 CA776250 BM693572 AA885400 AV726218 BX508001 AL134197 BM668892 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CDK5R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCTCAGTT
    CDK5R1 Expression
    About this image


    CDK5R1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Mature Endothelial Cells Blood Brain Barrier
             Midbrain tegmentum
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             T-Cytotoxic Cells Thymus
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Blood (Cardiovascular System)
             T-Cytotoxic Cells Thymus
    CDK5R1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDK5R1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.500015

    UniProtKB/Swiss-Prot: CD5R1_HUMAN, Q15078
    Tissue specificity: Brain and neuron specific

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDK5R1: 
              Neurogenesis in human mouse rat
              Cytoskeleton Regulators in human mouse rat
              Cell Cycle in human mouse rat
              GABA & Glutamate in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CDK5R1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdk5r11 , 5 cyclin-dependent kinase 5, regulatory subunit 1 (p35)1, 5 92.51(n)1
    98.37(a)1
      11 (47.94 cM)5
    125691  NM_009871.21  NP_034001.11 
     804770235 
    lizard
    (Anolis carolinensis)
    Reptilia CDK5R16
    cyclin-dependent kinase 5, regulatory subunit 1 (p...
    56(a)
    1 ↔ 1
    GL344418.1(19462-20448)
    African clawed frog
    (Xenopus laevis)
    Amphibia cdk5r1-A-prov2 cyclin-dependent kinase 5 regulatory subunit 75.6(n)    AF000951.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cdk5r1b1 cyclin-dependent kinase 5, regulatory subunit 1b (p35) 76.63(n)
    81.73(a)
      436788  NM_001002515.1  NP_001002515.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cdk5alpha3 protein amino acid phosphorylation
    cyclin-dependent more
    51(a)   31D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea T23F11.33   -- 53(a)   III(4730960-4732968)   --


    ENSEMBL Gene Tree for CDK5R1 (if available)
    TreeFam Gene Tree for CDK5R1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDK5R1 gene
    CDK5R22  
    1 SIMAP similar gene for CDK5R1 using alignment to 4 protein entries:     CD5R1_HUMAN (see all proteins):
    CDK5R2

    Find genes that share paralogs with CDK5R1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CDK5R1 (see all 113)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1902993951,2
    --30812131(+) CTGCAA/GCCTCT 1 -- us2k10--------
    rs1932755911,2
    --30812160(+) ATTCTC/TCTGCC 1 -- us2k10--------
    rs80724741,2
    C--30812163(+) ctcctA/Gcctca 1 -- us2k10--------
    rs1850085391,2
    --30812207(+) CACCAC/TGCCTG 1 -- us2k10--------
    rs1890828101,2
    --30812317(+) CCAAAA/GTACTG 1 -- us2k10--------
    rs124530951,2
    H--30812407(+) TTGAAA/GAGCAG 1 -- us2k10--------
    rs99087191,2
    C--30812426(+) GTACAA/C/TTGAGG 1 -- us2k10--------
    rs728130421,2
    C,F--30812667(+) GCACCA/GTTTTG 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs1817462991,2
    --30812815(+) TAATCC/TGGATT 1 -- us2k10--------
    rs7567851,2
    C,F,H--30812845(-) CTGGGA/GAACAG 1 -- us2k130Minor allele frequency- G:0.49NA EA NS WA CSA 2484

    HapMap Linkage Disequilibrium report for CDK5R1 (30813637 - 30818274 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CDK5R1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908070CNV Loss21882294
    nsv519839CNV Loss19592680
    esv21464CNV Loss19812545

    Human Gene Mutation Database (HGMD): CDK5R1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDK5R1
    DNA2.0 Custom Variant and Variant Library Synthesis for CDK5R1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603460    OMIM disorders: --

    1 disease for CDK5R1:    
    About MalaCards
    tauopathy


    Find genes that share disorders with CDK5R1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CDK5R1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibrillary tangles 61.4 1 11932941 (1)
    neurodegeneration 59.3 8 15978013 (2), 10604467 (1), 16932754 (1), 12478466 (1) (see all 5)
    alzheimers disease 58 24 10830966 (2), 15978013 (2), 12887424 (1), 19154537 (1) (see all 13)
    neurodegenerative diseases 49.8 8 15307952 (1), 10604467 (1), 14673209 (1), 18053171 (1) (see all 6)
    memory impairment 22.7 5 12887424 (1), 15978013 (1), 19118186 (1)
    neurological disorders 0.987 1 15307952 (1)
    retinoblastoma 0.651 1 15741232 (1)
    leukemia 0 2 15289351 (1)
    ischemia 0 2 12684463 (1)
    necrosis 0 1 15307952 (1)

    Genetic Association Database (GAD): CDK5R1
    Human Genome Epidemiology (HuGE) Navigator: CDK5R1 (9 documents)

    Export disorders for CDK5R1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CDK5R1 gene, integrated from 10 sources (see all 203):
    (articles sorted by number of sources associating them with CDK5R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. p35 is a neural-specific regulatory subunit of cyclin-dependent kinase 5. (PubMed id 8090221)1, 2, 3 Tsai L.-H.... Harlow E. (Nature 1994)
    2. Conversion of p35 to p25 deregulates Cdk5 activity and promotes neurodegeneration. (PubMed id 10604467)1, 2, 9 Patrick G.N....Tsai L.H. (Nature 1999)
    3. Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation. (PubMed id 16425041)1, 4, 9 Venturin M....Riva P. (Neurogenetics 2006)
    4. Epistasis between tau phosphorylation regulating genes (CDK5R1 and GSK-3beta) and Alzheimer's disease risk. (PubMed id 19154537)1, 4, 9 Mateo I....Combarros O. (Acta Neurol. Scand. 2009)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    7. Suppression of calpain-dependent cleavage of the CDK5 activator p35 to p25 by site-specific phosphorylation. (PubMed id 17121855)1, 2 Kamei H.... Hisanaga S. (J. Biol. Chem. 2007)
    8. Mechanism of CDK5/p25 binding by CDK inhibitors. (PubMed id 15689152)1, 2 Mapelli M.... Musacchio A. (J. Med. Chem. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Neurotoxicity induces cleavage of p35 to p25 by calpain. (PubMed id 10830966)1, 9 Lee M.S....Tsai L.H. (Nature 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8851 HGNC: 1775 AceView: CDK5R1 Ensembl:ENSG00000176749 euGenes: HUgn8851
    ECgene: CDK5R1 Kegg: 8851 H-InvDB: CDK5R1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CDK5R1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDK5R1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdk5r1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDK5R1 gene:
    Search GeneIP for patents involving CDK5R1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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