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

CABLES1 Gene

protein-coding   GIFtS: 58
GCID: GC18P020714

Cdk5 And Abl Enzyme Substrate 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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     HsT25632
Interactor With CDK3 12 3     IK3-12
CABLES2 3     CDK5 And ABL1 Enzyme Substrate 12
CABL12     Ik3-13

External Ids:    HGNC: 250971   Entrez Gene: 917682   Ensembl: ENSG000001345087   OMIM: 6091945   UniProtKB: Q8TDN43   
ORGUL members:         
NONCODE14:n406465      

Export aliases for CABLES1 gene to outside databases

Previous GC identifers: GC18P018968 GC18P018970 GC18P017569


(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 Gene:
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)

GeneCards Summary for CABLES1 Gene: 
CABLES1 (Cdk5 and Abl enzyme substrate 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with CABLES1 include shoulder impingement syndrome, and colorectal cancer, and among its related super-pathways are Platelet activation, signaling and aggregation and Beta-Adrenergic Signaling. GO annotations related to this gene include cyclin-dependent protein serine/threonine kinase regulator activity. An important paralog of this gene is CABLES2.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CABLES1 at MOPED 

Post-translational modifications:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TDN4

  • CABLES1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CABLES1 Protein Expression
    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 for CABLES1: 
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    Novus Biologicals CABLES1 Protein
    Novus Biologicals CABLES1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    Cloud-Clone Corp. ELISAs for CABLES1 
    Cloud-Clone Corp. CLIAs for CABLES1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     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


    CABLES1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0016538cyclin-dependent protein serine/threonine kinase regulator activity IEA--
         
    CABLES1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cables1):
     reproductive system  tumorigenesis 

    CABLES1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cables1tm1Lrz for CABLES1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CABLES1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CABLES1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CABLES1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CABLES1 

    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 plasmidCABLES1 3' UTR sequence
    Inhib. RNA
    Products:
        
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                         Customized lentivirus expression plasmids for stable overexpression of CABLES1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABLES1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CABLES1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet activation, signaling and aggregation
    Hemostasis0.43
    2Erythropoietin Pathway
    CDK5 Pathway0.36
    3Guidance Cues and Growth Cone Motility
    Guidance Cues and Growth Cone Motility
    4Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production

    Pathways by source                                                                                                                                                                 See SuperPaths
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (CABL1)

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

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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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    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
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CABLES1

    Additional mRNA 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):

    BM824239 AK093243 BC004124 BM672526 BM551988 AA385400 CD674976 CB155641 
    BC015686 AW245464 BQ215980 BX645321 BQ920894 CB156835 BQ932300 BM786494 
    NM_138375 CA394563 AA983349 AF348525 AX748010 AK025627 BI118194 BM823785 

    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

    (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)      CABLES1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAAAGAGA
    CABLES1 Expression
    About this image


    CABLES1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Melanocytes (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Uncategorized (Uncategorized)
             PureStem progenitor RP1-MV2-6

    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

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

    (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 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cables11 , 5 CDK5 and Abl enzyme substrate 11, 5 86.68(n)1
    88.27(a)1
      18 (5.88 cM)5
    639551  NM_001146287.11  NP_001139759.11 
     118392745 
    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
    Cdk5 and Abl enzyme substrate 1
    67(a)
    1 ↔ 1
    4(38374979-38435503)
    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
    Protein Y71F9B.6
    17(a)
    1 → many
    I(2722519-2726658)


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

    (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



    (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) 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

    10/2574 SNPs in CABLES1 are shown (see all 2574)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs345374451,2
    C--17683179(+) TTTTT-/TTTA  
            
    AAAAA
    3 -- int11Minor allele frequency- TTTA:0.00NA 2
    rs1852006771,2
    --20712560(+) AAAATA/TAAAAT 2 -- us2k10--------
    rs1896611381,2
    --20712652(+) CTGGGC/TGTAGT 2 -- us2k10--------
    rs1170015231,2
    C,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
    C--20712866(+) GGAGCC/TTGCAG 2 -- us2k10--------
    rs1844453801,2
    --20713053(+) AGACCA/GGCCCG 2 -- us2k10--------
    rs48004501,2
    C,F--20713058(+) GGCCCG/AGGCAA 2 -- us2k15Minor allele frequency- A:0.16NA WA EA 362
    rs1883005151,2
    --20713115(+) CTTTTC/TTTTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CABLES1 (20714528 - 20840434 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for CABLES1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1669821CNV Deletion17803354
    esv2716857CNV Deletion23290073
    esv991609CNV Deletion20482838
    esv1008398CNV Deletion20482838
    esv2716856CNV Deletion23290073
    esv2676028CNV Deletion23128226
    esv2716855CNV Deletion23290073
    esv27368CNV Loss19812545
    esv32657CNV Loss17666407
    nsv833597CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609194    OMIM disorders: --

    6 diseases for CABLES1:    About MalaCards
    shoulder impingement syndrome    colorectal cancer    ovarian cancer    tuberculosis
    lung cancer    neuronitis


    CABLES1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CABLES1
    Human Genome Epidemiology (HuGE) Navigator: CABLES1 (2 documents)

    Export disorders for CABLES1 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)
    About This Section

    PubMed articles for CABLES1 gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with CABLES1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (2011)
    2. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (2010)
    3. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    4. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (2009)
    5. Genome-wide and candidate gene association study of cigarette smoking behaviors. (PubMed id 19247474)1, 4 Caporaso N....Bergen A.W. (2009)
    6. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    7. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)1, 2 Nusbaum C.... Lander E.S. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. 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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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     Regulatory tfbs in CABLES1 promoter
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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