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Aliases for CABLES1 Gene

Aliases for CABLES1 Gene

  • Cdk5 And Abl Enzyme Substrate 1 2 3 5
  • Interactor With CDK3 1 3 4
  • CABLES 3 4
  • IK3-1 3 4
  • HsT2563 3
  • CABL1 3

External Ids for CABLES1 Gene

Previous GeneCards Identifiers for CABLES1 Gene

  • GC18P018968
  • GC18P018970
  • GC18P020714
  • GC18P017569

Summaries for CABLES1 Gene

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. Among its related 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 for CABLES1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CABLES1 Gene

Genomics for CABLES1 Gene

Regulatory Elements for CABLES1 Gene

Enhancers for CABLES1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CABLES1 on UCSC Golden Path with GeneCards custom track

Promoters for CABLES1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CABLES1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CABLES1 Gene

Chromosome:
18
Start:
23,134,564 bp from pter
End:
23,260,470 bp from pter
Size:
125,907 bases
Orientation:
Plus strand

Genomic View for CABLES1 Gene

Genes around CABLES1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABLES1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABLES1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABLES1 Gene

Proteins for CABLES1 Gene

  • Protein details for CABLES1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDN4-CABL1_HUMAN
    Recommended name:
    CDK5 and ABL1 enzyme substrate 1
    Protein Accession:
    Q8TDN4
    Secondary Accessions:
    • B4DK60
    • Q8N3Y8
    • Q8NA22
    • Q9BTG1

    Protein attributes for CABLES1 Gene

    Size:
    633 amino acids
    Molecular mass:
    67599 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for CABLES1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CABLES1 Gene

Proteomics data for CABLES1 Gene at MOPED

Post-translational modifications for CABLES1 Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CABLES1 Gene

Antibody Products

No data available for DME Specific Peptides for CABLES1 Gene

Domains & Families for CABLES1 Gene

Protein Domains for CABLES1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8TDN4

UniProtKB/Swiss-Prot:

CABL1_HUMAN :
  • Belongs to the cyclin family.
Family:
  • Belongs to the cyclin family.
genes like me logo Genes that share domains with CABLES1: view

No data available for Gene Families for CABLES1 Gene

Function for CABLES1 Gene

Molecular function for CABLES1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Up-regulated by progesterone and down-regulated by estrogen in benign endometrium.
genes like me logo Genes that share phenotypes with CABLES1: view

Animal Models for CABLES1 Gene

MGI Knock Outs for CABLES1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CABLES1 Gene

Localization for CABLES1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABLES1 Gene

Nucleus. Cytoplasm. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CABLES1 Gene COMPARTMENTS Subcellular localization image for CABLES1 gene
Compartment Confidence
cytosol 5
nucleus 4
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for CABLES1 Gene

Pathways & Interactions for CABLES1 Gene

genes like me logo Genes that share pathways with CABLES1: view

Pathways by source for CABLES1 Gene

SIGNOR curated interactions for CABLES1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for CABLES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with CABLES1: view

Drugs & Compounds for CABLES1 Gene

No Compound Related Data Available

Transcripts for CABLES1 Gene

Unigene Clusters for CABLES1 Gene

Cdk5 and Abl enzyme substrate 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CABLES1 Gene

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: - - -
SP6: - - - - - - - - - - - -
SP7: - -

Relevant External Links for CABLES1 Gene

GeneLoc Exon Structure for
CABLES1
ECgene alternative splicing isoforms for
CABLES1

Expression for CABLES1 Gene

mRNA expression in normal human tissues for CABLES1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CABLES1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x4.8), Brain - Nucleus accumbens (basal ganglia) (x4.5), and Brain - Putamen (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for CABLES1 Gene

This gene is overexpressed in Platelet (49.9) and Frontal cortex (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CABLES1 Gene



SOURCE GeneReport for Unigene cluster for CABLES1 Gene Hs.11108

mRNA Expression by UniProt/SwissProt for CABLES1 Gene

Q8TDN4-CABL1_HUMAN
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.
genes like me logo Genes that share expression patterns with CABLES1: view

Protein tissue co-expression partners for CABLES1 Gene

Primer Products

Orthologs for CABLES1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CABLES1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CABLES1 35
  • 90.6 (n)
  • 95.41 (a)
CABLES1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CABLES1 35
  • 90.07 (n)
  • 91.93 (a)
CABLES1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cables1 35
  • 87.43 (n)
  • 89.83 (a)
Cables1 16
Cables1 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CABLES1 35
  • 99.81 (n)
  • 100 (a)
CABLES1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cables1 35
  • 86.21 (n)
  • 89.51 (a)
oppossum
(Monodelphis domestica)
Mammalia CABLES1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CABLES1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves CABLES1 35
  • 83.39 (n)
  • 92.79 (a)
CABLES1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CABLES1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cables1 35
  • 69.7 (n)
  • 75.82 (a)
zebrafish
(Danio rerio)
Actinopterygii cables1 35
  • 71.06 (n)
  • 75.65 (a)
Dr.17918 35
cables1 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6191 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71F9B.6 36
  • 19 (a)
OneToMany
Species with no ortholog for CABLES1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for CABLES1 Gene

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

Paralogs for CABLES1 Gene

Paralogs for CABLES1 Gene

(2) SIMAP similar genes for CABLES1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CABLES1: view

Variants for CABLES1 Gene

Sequence variations from dbSNP and Humsavar for CABLES1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs10210 -- 23,258,322(+) ATATC(G/T)CTATA nc-transcript-variant, utr-variant-3-prime
rs11708 -- 23,258,409(+) ACTGC(A/G)TTTGG nc-transcript-variant, utr-variant-3-prime
rs1560851 -- 23,218,802(+) TACTA(C/T)CTATT intron-variant
rs7231073 -- 23,247,623(+) AGGCA(C/T)AGAGC intron-variant
rs7231643 -- 23,177,694(+) GGGAA(A/G)GTGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CABLES1 Gene

Variant ID Type Subtype PubMed ID
esv27368 CNV Loss 19812545
esv991609 CNV Deletion 20482838
nsv833597 CNV Loss 17160897
dgv1018e1 CNV Complex 17122850
esv32657 CNV Loss 17666407
esv2716855 CNV Deletion 23290073
esv2716856 CNV Deletion 23290073
esv2716857 CNV Deletion 23290073
esv1008398 CNV Deletion 20482838
esv1669821 CNV Deletion 17803354
nsv458033 CNV Loss 19166990
esv2676028 CNV Deletion 23128226

Variation tolerance for CABLES1 Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.03; 84.27% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CABLES1 Gene

Disorders for CABLES1 Gene

Relevant External Links for CABLES1

Genetic Association Database (GAD)
CABLES1
Human Genome Epidemiology (HuGE) Navigator
CABLES1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CABLES1

No disorders were found for CABLES1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CABLES1 Gene

Publications for CABLES1 Gene

  1. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C. … Soranzo N. (Nature 2011) 3 48 67
  2. The Cables gene on chromosome 18q is silenced by promoter hypermethylation and allelic loss in human colorectal cancer. (PMID: 17982127) Park d.o. .Y. … Zukerberg L.R. (Am. J. Pathol. 2007) 2 3
  3. ik3-2, a relative to ik3-1/cables, is associated with cdk3, cdk5, and c-abl. (PMID: 11955625) Sato H. … Matsuoka M. (Biochim. Biophys. Acta 2002) 3 23
  4. Cables1 controls p21/Cip1 protein stability by antagonizing proteasome subunit alpha type 3. (PMID: 24975575) Shi Z. … Khuri F.R. (Oncogene 2015) 3
  5. Cables1 complex couples survival signaling to the cell death machinery. (PMID: 25361894) Shi Z. … Khuri F.R. (Cancer Res. 2015) 3

Products for CABLES1 Gene

Sources for CABLES1 Gene

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