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    CABLES1 Cdk5 and Abl enzyme substrate 1 [ Homo sapiens (human) ]

    Gene ID: 91768, updated on 22-Apr-2018
    Official Symbol
    CABLES1provided by HGNC
    Official Full Name
    Cdk5 and Abl enzyme substrate 1provided by HGNC
    Primary source
    HGNC:HGNC:25097
    See related
    Ensembl:ENSG00000134508 MIM:609194; Vega:OTTHUMG00000179186
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CABL1; IK3-1; CABLES; HsT2563
    Summary
    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]
    Expression
    Broad expression in lung (RPKM 9.3), fat (RPKM 7.7) and 24 other tissues See more
    Orthologs
    Location:
    18q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (23134564..23260470)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (20714528..20840434)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RB binding protein 8, endonuclease Neighboring gene microRNA 4741 Neighboring gene RNA, 7SL, cytoplasmic 745, pseudogene Neighboring gene transmembrane protein 241 Neighboring gene RIO kinase 3 Neighboring gene regulator of MON1-CCZ1 Neighboring gene NPC intracellular cholesterol transporter 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    NHGRI GWA Catalog
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    NHGRI GWA Catalog
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    NHGRI GWA Catalog
    Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CABLES1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of Cdk5 and Abl enzyme substrate 1 (CABLES1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ35924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    CDK5 and ABL1 enzyme substrate 1
    Names
    interactor with CDK3 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100619.2NP_001094089.1  CDK5 and ABL1 enzyme substrate 1 isoform 2

      See identical proteins and their annotated locations for NP_001094089.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon that contains the translation initiation site, resulting in an isoform (2) with a distinct N-terminus.
      Source sequence(s)
      AC011731, AK025627, BC004124, BC015686, EF028204
      Consensus CDS
      CCDS42417.1
      UniProtKB/Swiss-Prot
      Q8TDN4
      UniProtKB/TrEMBL
      A7K6Y5
      Related
      ENSP00000256925.7, OTTHUMP00000260884, ENST00000256925.11, OTTHUMT00000445198
      Conserved Domains (2) summary
      cd00043
      Location:516601
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
      pfam06679
      Location:126177
      DUF1180; Protein of unknown function (DUF1180)
    2. NM_001256438.1NP_001243367.1  CDK5 and ABL1 enzyme substrate 1 isoform 3

      See identical proteins and their annotated locations for NP_001243367.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and use an alternate start codon compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC011731, AC105247, AK296407
      Consensus CDS
      CCDS58615.1
      UniProtKB/Swiss-Prot
      Q8TDN4
      Related
      ENSP00000383321.2, OTTHUMP00000261053, ENST00000400473.6, OTTHUMT00000445195
      Conserved Domains (1) summary
      cd00043
      Location:189274
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
    3. NM_138375.2NP_612384.1  CDK5 and ABL1 enzyme substrate 1 isoform 1

      See identical proteins and their annotated locations for NP_612384.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate first exon that contains the translation initiation site, resulting in an isoform (1) with a distinct N-terminus.
      Source sequence(s)
      AK025627, BC004124, BC015686, BC037218
      Consensus CDS
      CCDS42418.1
      UniProtKB/Swiss-Prot
      Q8TDN4
      UniProtKB/TrEMBL
      A0A024RC20
      Related
      ENSP00000413851.2, OTTHUMP00000260886, ENST00000420687.2, OTTHUMT00000445204
      Conserved Domains (1) summary
      cd00043
      Location:251336
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

    RNA

    1. NR_023359.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon and lacks three consecutive exons in the coding region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AK025627, AK093243, BC015686, BC037218

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

      Range
      23134564..23260470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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