Human Gene CABLES1 (ENST00000256925.12_6) from GENCODE V47lift37
  Description: Cdk5 and Abl enzyme substrate 1, transcript variant 2 (from RefSeq NM_001100619.3)
Gencode Transcript: ENST00000256925.12_6
Gencode Gene: ENSG00000134508.13_12
Transcript (Including UTRs)
   Position: hg19 chr18:20,715,449-20,840,434 Size: 124,986 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr18:20,715,727-20,837,331 Size: 121,605 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:20,715,449-20,840,434)mRNA (may differ from genome)Protein (633 aa)
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CABL1_HUMAN
DESCRIPTION: RecName: Full=CDK5 and ABL1 enzyme substrate 1; AltName: Full=Interactor with CDK3 1; Short=Ik3-1;
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).
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).
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.
DEVELOPMENTAL STAGE: Expression in the endometrial epithelium fluctuates during the menstrual cycle, being greater during the secretory phase when compared with the proliferative phase.
INDUCTION: Up-regulated by progesterone and down-regulated by estrogen in benign endometrium.
PTM: 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).
SIMILARITY: Belongs to the cyclin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.57 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 309.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.70278-0.560 Picture PostScript Text
3' UTR -1099.503103-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012388 - Cdk5/c-Abl_linker_Cables
IPR013763 - Cyclin-like
IPR006671 - Cyclin_N

Pfam Domains:
PF00134 - Cyclin, N-terminal domain

SCOP Domains:
47954 - Cyclin-like

ModBase Predicted Comparative 3D Structure on Q8TDN4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007049 cell cycle
GO:0007399 nervous system development
GO:0051301 cell division
GO:0051726 regulation of cell cycle

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK296407 - Homo sapiens cDNA FLJ57515 complete cds, highly similar to CDK5 and ABL1 enzyme substrate 1.
AK093243 - Homo sapiens cDNA FLJ35924 fis, clone TESTI2010732.
AX748010 - Sequence 1535 from Patent EP1308459.
EF028204 - Homo sapiens CDK5 and Abl enzyme substrate 1 mRNA, complete cds.
AF348525 - Homo sapiens CABLES mRNA, partial cds.
JD157207 - Sequence 138231 from Patent EP1572962.
BC037218 - Homo sapiens Cdk5 and Abl enzyme substrate 1, mRNA (cDNA clone MGC:35496 IMAGE:5196987), complete cds.
AK304880 - Homo sapiens cDNA FLJ61091 complete cds, highly similar to CDK5 and ABL1 enzyme substrate 1.
BC004124 - Homo sapiens Cdk5 and Abl enzyme substrate 1, mRNA (cDNA clone IMAGE:3937015), partial cds.
JD165695 - Sequence 146719 from Patent EP1572962.
JD328362 - Sequence 309386 from Patent EP1572962.
JD063119 - Sequence 44143 from Patent EP1572962.
JD385138 - Sequence 366162 from Patent EP1572962.
JD144499 - Sequence 125523 from Patent EP1572962.
JD327118 - Sequence 308142 from Patent EP1572962.
AK025627 - Homo sapiens cDNA: FLJ21974 fis, clone HEP05861.
JD347540 - Sequence 328564 from Patent EP1572962.
JD403629 - Sequence 384653 from Patent EP1572962.
JD470837 - Sequence 451861 from Patent EP1572962.
JD536370 - Sequence 517394 from Patent EP1572962.
JD284417 - Sequence 265441 from Patent EP1572962.
JD503664 - Sequence 484688 from Patent EP1572962.
JD516679 - Sequence 497703 from Patent EP1572962.
JD121435 - Sequence 102459 from Patent EP1572962.
JD454526 - Sequence 435550 from Patent EP1572962.
JD299352 - Sequence 280376 from Patent EP1572962.
JD295985 - Sequence 277009 from Patent EP1572962.
JD097916 - Sequence 78940 from Patent EP1572962.
JD133955 - Sequence 114979 from Patent EP1572962.
BC015686 - Homo sapiens cDNA clone IMAGE:4650501, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TDN4 (Reactome details) participates in the following event(s):

R-HSA-1013881 Cables1 links CDK2 and WEE1
R-HSA-1013833 Cables link CDK5 and ABL1
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: B4DK60, CABL1_HUMAN, CABLES, ENST00000256925.1, ENST00000256925.10, ENST00000256925.11, ENST00000256925.2, ENST00000256925.3, ENST00000256925.4, ENST00000256925.5, ENST00000256925.6, ENST00000256925.7, ENST00000256925.8, ENST00000256925.9, NM_001100619, Q8N3Y8, Q8NA22, Q8TDN4, Q9BTG1, uc317fwq.1, uc317fwq.2
UCSC ID: ENST00000256925.12_6
RefSeq Accession: NM_001100619.3
Protein: Q8TDN4 (aka CABL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.