CBL Gene Sequence, Family, Fuction and Expression Information

CBL cDNA / Gene Overview

CBL cDNA / gene is a gene with protein product which located on 11q23.3. The CBL gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog. 235 organisms have orthologs with human gene CBL.

CBL cDNA / Gene Function

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]

CBL cDNA / Gene Sequence

LOCUS
X57110 3090 bp mRNA linear PRI 12-DEC-1992
DEFINITION
Human mRNA for c-cbl proto-oncogene.
ACCESSION
X57110
VERSION
X57110.1

This sequence information is just for reference only.

CBL Family & Reagents

Gene family

CBL Gene family reagents (Ring finger proteins)

Approved Symbol Reagent list
BIRC2
CBLC
RNF43
XIAP
Approved Symbol Reagent list
BIRC7
MDM4
TRIM21
   

CBL cDNA / Gene Alias

  • c-Cbl
  • oncogene CBL2
  • RNF55

CBL cDNA / Gene Expression

Broad expression in testis (RPKM 12.3), lymph node (RPKM 6.0) and 23 other tissues