The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]
Function:
Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42.
Subunit:
Interacts with an array of inositol phospholipids such as phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P). May interact with CCPG1.
Subcellular Location:
Cytoplasm Isoform 1: Membrane Isoform 3: Membrane. Note: Colocalizes with CDC42 to plasma membrane.
Tissue Specificity:
Isoform 1 is expressed only in brain. Isoform 3 is expressed in heart, kidney, spleen, liver and testis. Isoform 4 is expressed in brain, heart, kidney, testis, placenta, stomach and peripheral blood. The protein is detectable in brain, heart, kidney, intestine, muscle, lung and testis.
Post-translational modifications:
Phosphorylation by TNK2 enhances guanine nucleotide exchange factor (GEF) activity toward Rho family proteins.
DISEASE:
MCF2 and DBL represent two activated versions of the same proto-oncogene.
Similarity:
Belongs to the MCF2 family.
Contains 1 CRAL-TRIO domain.
Contains 1 DH (DBL-homology) domain.
Contains 1 PH domain.
Contains 1 spectrin repeat.
SWISS:
P10911
Gene ID:
4168
Database links:
Entrez Gene: 4168 Human
Omim: 311030 Human
SwissProt: P10911 Human
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