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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
  • CDK5 And ABL1 Enzyme Substrate 1 3
  • 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 Factors involved in megakaryocyte development and platelet production and Guidance Cues and Growth Cone Motility. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F023167 0.2 ENCODE 16.3 +34.6 34550 3.3 KLF1 ESRRA RFX1 NR2F1 NR4A1 MAX CREB3 POLR2A ELK1 KDM6A CABLES1 GC18P023170 LOC105372022
GH18F023276 0.5 ENCODE 15.6 +142.4 142410 1.5 ZNF169 SETDB1 CABLES1 TMEM241 ENSG00000266495
GH18F023158 0.4 ENCODE 12.8 +24.8 24784 1.2 TFAP4 FOXP2 CABLES1 GC18P023170 LOC105372022
GH18F023356 0.5 Ensembl ENCODE 12.1 +223.4 223351 3.4 ELF3 TBP TBL1XR1 WRNIP1 THRB ZSCAN9 RAD21 RARA SLC30A9 ZNF143 TMEM241 CABLES1 ANKRD29 NPC1 ENSG00000266495
GH18F023166 0.5 Ensembl 12 +32.3 32338 0.2 CABLES1 NPC1 GC18P023170 LOC105372022
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000523183 1836 3201 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF2 GLIS2 KLF7 ZNF263

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

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

  • Abcam antibodies for CABLES1
  • Santa Cruz Biotechnology (SCBT) Antibodies for CABLES1

No data available for DME Specific Peptides for CABLES1 Gene

Domains & Families for CABLES1 Gene

Protein Domains for CABLES1 Gene

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.

Gene Ontology (GO) - Molecular Function for CABLES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20559324
genes like me logo Genes that share ontologies with CABLES1: view
genes like me logo Genes that share phenotypes with CABLES1: view

Animal Models for CABLES1 Gene

MGI Knock Outs for CABLES1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for CABLES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 17101133
genes like me logo Genes that share ontologies with CABLES1: view

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:0007049 cell cycle IEA --
GO:0051301 cell division IEA --
GO:0051726 regulation of cell cycle IEA --
genes like me logo Genes that share ontologies with CABLES1: view

Transcripts for CABLES1 Gene

Unigene Clusters for CABLES1 Gene

Cdk5 and Abl enzyme substrate 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CABLES1 Gene



Protein tissue co-expression partners for CABLES1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CABLES1 Gene:

CABLES1

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

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
chimpanzee
(Pan troglodytes)
Mammalia CABLES1 34 35
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia CABLES1 34 35
  • 90.6 (n)
dog
(Canis familiaris)
Mammalia CABLES1 34 35
  • 90.07 (n)
mouse
(Mus musculus)
Mammalia Cables1 34 16 35
  • 87.43 (n)
rat
(Rattus norvegicus)
Mammalia Cables1 34
  • 86.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CABLES1 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CABLES1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CABLES1 34 35
  • 83.39 (n)
lizard
(Anolis carolinensis)
Reptilia CABLES1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cables1 34
  • 69.7 (n)
zebrafish
(Danio rerio)
Actinopterygii cables1 34 35
  • 71.06 (n)
Dr.17918 34
fruit fly
(Drosophila melanogaster)
Insecta CG6191 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71F9B.6 35
  • 19 (a)
OneToMany
Species where no ortholog for CABLES1 was found in the sources mined by GeneCards:
  • 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
rs10163868 -- 23,175,951(+) aaaaa(A/G)aataa intron-variant
rs10164173 -- 23,144,931(+) ttttt(C/T)ttctt intron-variant
rs10210 -- 23,258,322(+) ATATC(G/T)CTATA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1045266 -- 23,258,507(+) ACTTG(C/T)CCTGG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs10589814 -- 23,260,811(+) AAACT(-/GA)GTGTA intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
dgv5873n54 CNV loss 21841781
esv1008398 CNV deletion 20482838
esv1669821 CNV deletion 17803354
esv2676028 CNV deletion 23128226
esv2716855 CNV deletion 23290073
esv2716856 CNV deletion 23290073
esv2716857 CNV deletion 23290073
esv27368 CNV loss 19812545
esv2758716 CNV loss 17122850
esv2761994 CNV gain 21179565
esv32657 CNV loss 17666407
esv3417537 CNV duplication 20981092
esv3448603 CNV duplication 20981092
esv3641969 CNV loss 21293372
esv991609 CNV deletion 20482838
nsv1071838 CNV deletion 25765185
nsv458033 CNV loss 19166990
nsv576569 CNV loss 21841781
nsv833597 CNV loss 17160897

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)

Relevant External Links for CABLES1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABLES1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 46 64
  2. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PMID: 20189936) Okada Y. … Kamatani N. (Hum. Mol. Genet. 2010) 3 46 64
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  4. Genome-wide and candidate gene association study of cigarette smoking behaviors. (PMID: 19247474) Caporaso N. … Bergen A.W. (PLoS ONE 2009) 3 46 64
  5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U. … Jarvelin M.R. (PLoS Genet. 2009) 3 46 64

Products for CABLES1 Gene

Sources for CABLES1 Gene

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