Format

Send to:

Choose Destination

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

Gene ID: 91768, updated on 17-Jun-2019

Summary

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
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

Genomic context

See CABLES1 in Genome Data Viewer
Location:
18q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 RNA, 7SL, cytoplasmic 745, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2761 Neighboring gene transmembrane protein 241 Neighboring gene RIO kinase 3 Neighboring gene regulator of MON1-CCZ1 Neighboring gene NPC intracellular cholesterol transporter 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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
 

General protein information

Preferred Names
CDK5 and ABL1 enzyme substrate 1
Names
interactor with CDK3 1

NCBI Reference Sequences (RefSeq)

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, ENST00000256925.11
    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, ENST00000400473.6
    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, ENST00000420687.2
    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_023359.2 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.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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