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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CABLES1 Gene

protein-coding   GIFtS: 56
GCID: GC18P020714

Cdk5 and Abl enzyme substrate 1
 Explore 8 diseases affiliated with
CABLES1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CABLES1    

Aliases
for CABLES1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Cdk5 And Abl Enzyme Substrate 11 2     CABL12
HsT25631 2     IK3-12
Interactor With CDK3 12 3     CDK5 And ABL1 Enzyme Substrate 12
CABLES2 3     Ik3-13
FLJ359241     

External Ids:    HGNC: 250971   Entrez Gene: 917682   Ensembl: ENSG000001345087   OMIM: 6091945   UniProtKB: Q8TDN43   
ORGUL members:         
NONCODE:n406465    

Export aliases for CABLES1 gene to outside databases

Previous GC identifers: GC18P018968 GC18P018970 GC18P017569


Summaries
for CABLES1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CABLES1:
This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent
kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal
of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal
cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jan 2012)

UniProtKB/Swiss-Prot: CABL1_HUMAN, Q8TDN4
Function: Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by
nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is
critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth
inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By
similarity)

Gene Wiki entry for CABLES1


Genomic Views
for CABLES1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CABLES1 gene promoter:
         S8   HNF-1   XBP-1   HNF-1A   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CABLES1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CABLES1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CABLES1


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

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

CABLES1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CABLES1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P020714:  view genomic region     (about GC identifiers)

Start:
 20,714,528 bp from pter      End:
 20,840,434 bp from pter
Size:
 125,907 bases      Orientation:
 plus strand

Proteins
for CABLES1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CABL1_HUMAN, Q8TDN4 (See protein sequence)
Recommended Name: CDK5 and ABL1 enzyme substrate 1  
Size: 633 amino acids; 67599 Da
Subunit: Found in a complex with p53/TP53. Found in a number of complexes with CDK2, CDK3, CDK5, ABL1, TDRD7, CDK17,
CCNA1, CCNE1 and TP73. Interacts with CDK2, CDK3, CDK5, ABL1 and TDRD7 (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Note=Located in the cell body and proximal
region of the developing axonal shaft of immature neurons. Located in axonal growth cone, but not in the distal part
of the axon shaft or in dendritic growth cone of mature neurons (By similarity)
Developmental stage: Expression in the endometrial epithelium fluctuates during the menstrual cycle, being greater
during the secretory phase when compared with the proliferative phase
Secondary accessions: B4DK60 Q8N3Y8 Q8NA22 Q9BTG1
Alternative splicing: 4 isoforms:  Q8TDN4-1   Q8TDN4-2   Q8TDN4-3   Q8TDN4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CABLES1: NX_Q8TDN4

Post-translational modifications:

  • Phosphorylated on Ser-313 by CCNE1/CDK3. Phosphorylated on serine/threonine residues by CDK5 and on tyrosine residues
    • by ABL1. Also phosphorylated in vitro by CCNA1/CDK2, CCNE1/CDK2, CCNA1/CDK3 and CCNE1/CDK3 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TDN4

    • CABLES1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001094089.1  NP_001243367.1  NP_612384.1  

    ENSEMBL proteins: 
     ENSP00000383321   ENSP00000464435   ENSP00000461994   ENSP00000256925   ENSP00000413851  
    Reactome Protein details: Q8TDN4
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: CABLES1
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    Novus Biologicals CABLES1 Protein
    Novus Biologicals CABLES1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CABLES1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol IDA17101133


    CABLES1 for ontologies           About GeneDecksing



    CABLES1 Antibody Products: 
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    Uscn Antibodies for CABLES1
    ThermoFisher Antibody for CABLES1

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    Uscn ELISAs and CLIAs for CABLES1

    Protein Domains /
    Families
    for CABLES1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CABLES1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR012388 Cdk5/c-Abl_linker_Cables
     IPR013763 Cyclin-like
     IPR006671 Cyclin_N

    Graphical View of Domain Structure for InterPro Entry Q8TDN4

    ProtoNet protein and cluster: Q8TDN4

    UniProtKB/Swiss-Prot: CABL1_HUMAN, Q8TDN4
    Similarity: Belongs to the cyclin family


    Function
    for CABLES1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CABL1_HUMAN, Q8TDN4
    Function: Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by
    nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is
    critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth
    inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By
    similarity)
    Induction: Up-regulated by progesterone and down-regulated by estrogen in benign endometrium

    miRNA
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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate CABLES1 (see all 32):
    hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-218 hsa-miR-519a hsa-miR-93 hsa-miR-4325 hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmid: CABLES1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CABLES1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CABLES1 (see all 5)
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    GenScript: all cDNA clones in your preferred vector (see all 2): CABLES1 (NM_138375)
    Browse Sino Biological Human cDNA Clones
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    Cell Line
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    Search LifeMap BioReagents cell lines for CABLES1

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABLES1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016538cyclin-dependent protein kinase regulator activity IEA--


    CABLES1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Cables1tm1Lrz for CABLES1
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cables1):
     reproductive system  tumorigenesis 

    CABLES1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CABLES1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    2Guidance Cues and Growth Cone Motility
    		Guidance Cues and Growth Cone Motility1.00
    3Platelet activation, signaling and aggregation
    		Hemostasis0.43
    4Erythropoietin Pathway
    		CDK5 Pathway0.21

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CABLES1
        Guidance Cues and Growth Cone Motility
    CDK5 Pathway

    2        Reactome Pathways for CABLES1
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    CABLES1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CABLES1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/18 Interacting proteins for CABLES1 (Q8TDN42, 3 ENSP000002569254) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP63Q9H3D42, 3, ENSP000002647314MINT-7988829 MINT-7988887 MINT-7988815 MINT-7988867 MINT-7988849 MINT-7988907 MINT-7988919 I2D: score=1 STRING: ENSP00000264731
    CDK5Q005352, 3, ENSP000002975184MINT-7988705 MINT-7988679 I2D: score=4 STRING: ENSP00000297518
    CDK3Q005263, ENSP000004000884I2D: score=3 STRING: ENSP00000400088
    TP53P046373, ENSP000002693054I2D: score=3 STRING: ENSP00000269305
    ABL1P005193, ENSP000003614234I2D: score=2 STRING: ENSP00000361423
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0007399nervous system development IEA--
    GO:0007596blood coagulation TAS--
    GO:0051301cell division IEA--
    GO:0051302regulation of cell division IEA--


    CABLES1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CABLES1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CABLES1
    Search CenterWatch for drugs/clinical trials and news about CABLES1 / CABL1 

    Transcripts
    for CABLES1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CABLES1 gene (3 alternative transcripts): 
    NM_001100619.2  NM_001256438.1  NM_138375.2  

    Unigene Cluster for CABLES1:

    Cdk5 and Abl enzyme substrate 1
    Hs.11108  [show with all ESTs]
    Unigene Representative Sequence: NM_001100619
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400473 ENST00000579963 ENST00000580153 ENST00000256925(uc002kub.2 uc002kuc.2 uc002kud.2)
    ENST00000582882 ENST00000583220 ENST00000580644 ENST00000578052 ENST00000585061
    ENST00000420687

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CABLES1
    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate CABLES1 (see all 32):
    hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-218 hsa-miR-519a hsa-miR-93 hsa-miR-4325 hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmid: CABLES1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CABLES1 (see all 7)
    OriGene shRNA RFP: CABLES1
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CABLES1
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CABLES1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CABLES1 (NM_138375)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CABLES1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CABLES1 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CABLES1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CABLES1

    Additional cDNA sequence: 

    AF348525.1 AK025627.1 AK093243.1 AK296407.1 AK304880.1 BC004124.2 BC005846.2 BC015686.2 
    BC019322.1 BC037218.1 EF028204.1 NR_023359.1 

    9 DOTS entries:

    DT.100814564  DT.454798  DT.95171668  DT.95363407  DT.92429910  DT.87003191  DT.100814562  DT.121084838 
    DT.40124521 

    24/169 AceView cDNA sequences (see all 169):

    BI118194 AF348525 BC015686 BM786494 BC037218 AK025627 AW245464 BQ920894 
    BP375298 BM824239 BF923447 BP431348 CB115776 BM672526 CA394563 BX645321 
    BC004124 BQ932300 AW338051 AX748010 BM823785 BM790995 BM687396 BC005846 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CABLES1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:                                                  -           -           -                                                   
    SP2:                                -     -           -           -           -                                                   
    SP3:        -     -     -     -     -     -           -           -           -     -     -     -                                 
    SP4:                                -     -           -           -                                                               
    SP5:                                -     -           -                                                                           


    ECgene alternative splicing isoforms for CABLES1

    Expression
    for CABLES1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CABLES1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAAAGAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CABLES1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyAfferent ArterioleJuxtaglomerular CellsKidney, Smooth Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)

    See CABLES1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CABLES1

    SOURCE GeneReport for Unigene cluster: Hs.11108

    UniProtKB/Swiss-Prot: CABL1_HUMAN, Q8TDN4
    Tissue specificity: Expressed in breast, pancreas, colon, head and neck (at protein level). Strongly decreased in more
    than half of cases of atypical endometrial hyperplasia and in more than 90% of endometrial cancers

        SABiosciences Custom PCR Arrays for CABLES1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CABLES1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABLES1

    Orthologs
    for CABLES1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CABLES1 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CABLES11 Cdk5 and Abl enzyme substrate 1 83.52(n)
    93.43(a)    		   768914  XM_001232074.2  XP_001232075.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CABLES16
    		 --
    		 68(a)
    		 1 ↔ 1
    		 4(38378035-38435497)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.179182 Transcribed sequence with weak similarity to protein more 70.62(n)    BM531092.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG61911 CG6191 47.57(n)
    40.61(a)    		   36513  NM_137046.4  NP_610890.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y71F9B.66
    		 --
    		 20(a)
    		 1 → many
    		 I(2722521-2726660)


    ENSEMBL Gene Tree for CABLES1 (if available)
    TreeFam Gene Tree for CABLES1 (if available) 

    Paralogs
    for CABLES1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CABLES1 gene
    CABLES22  
    2 SIMAP similar genes for CABLES1 using alignment to 2 protein entries:     CABL1_HUMAN (see all proteins):
    CABL1    CABLES2

    CABLES1 for paralogs           About GeneDecksing



    Genomic Variants
    for CABLES1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2172 NCBI SNPs in CABLES1 are shown (see all 2172)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs775236381,2
    		F--17653042(+) CCCTGG/CCTCCC 1 -- int11Minor allele frequency- C:0.50NA 4
    rs802203571,2
    		C,F--17653090(+) CCCTGC/GCTCCC 1 -- int13Minor allele frequency- G:0.33NA 6
    rs772864341,2
    		F--17653114(+) CCCTGG/CTTCCC 1 -- int12Minor allele frequency- C:0.50NA 4
    rs1852006771,2
    		--20712560(+) AAAATA/TAAAAT 2 -- us2k10--------
    rs1896611381,2
    		--20712652(+) CTGGGC/TGTAGT 2 -- us2k10--------
    rs1170015231,2
    		F,--20712653(+) TGGGCG/CTAGTG 2 -- us2k11Minor allele frequency- C:0.04NA 120
    rs99510011,2
    		C,--20712796(+) GTGGCA/GGGCGC 2 -- us2k10--------
    rs339463501,2
    		C,--20712820(+) GGGGGG/-CTGAG 2 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1814636541,2
    		--20712866(+) GGAGCC/TTGCAG 2 -- us2k10--------
    rs1844453801,2
    		--20713053(+) AGACCA/GGCCCG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CABLES1 (20714528 - 20840434 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CABLES1
         2 CNVs: 7180 4054
         1 Indel: 73126

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    Disorders / Diseases
    for CABLES1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CABLES1 for disorders           About GeneDecksing

    OMIM gene information: 609194    OMIM disorders: --

    8 diseases for CABLES1:    About MalaCards
    colorectal cancer    shoulder impingement syndrome    endometrial cancer    ovarian cancer
    lung cancer    tuberculosis    malaria    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: CABLES1 (2 documents)

    Export disorders for CABLES1 gene to outside databases

    Publications
    for CABLES1 gene

    (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)
    About This Section

    PubMed articles for CABLES1 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with CABLES1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)1, 2 Nusbaum C.... Lander E.S. (2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Loss of cables, a cyclin-dependent kinase regulatory protein, is associated with the development of endometrial hyperplasia and endometrial cancer. (PubMed id 14729625)1, 2 Zukerberg L.R.... Rueda B.R. (2004)
    4. 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. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. Differential effect of ik3-1/cables on p53- and p73-induced cell death. (PubMed id 11706030)1, 2 Tsuji K.... Matsuoka M. (2002)
    7. Cables enhances cdk2 tyrosine 15 phosphorylation by Wee1, inhibits cell growth, and is lost in many human colon and squamous cancers. (PubMed id 11585773)1, 2 Wu C.-L.... Zukerberg L.R. (2001)
    8. ik3-2, a relative to ik3-1/cables, is associated with cdk3, cdk5, and c-abl. (PubMed id 11955625)1, 9 Sato H....Matsuoka M. (2002)
    9. No association of polymorphisms in the CDK5, NDEL1, a nd LIS1 with autism in Chinese Han population. (PubMed id 21890215)1 Wang L....Zhang D. (2011)
    10. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1 Gieger C....Soranzo N. (2011)

    External Searches for CABLES1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CABLES1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 91768 HGNC: 25097 AceView: CABLES1 Ensembl:ENSG00000134508 euGenes: HUgn91768
    ECgene: CABLES1 H-InvDB: CABLES1

    Other Databases showing CABLES1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CABLES1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CABLES1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CABLES1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CABLES1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CABLES1 gene:
    Search GeneIP for patents involving CABLES1

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



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    About This Section

     
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