Human Gene MCF2 (ENST00000519895.6) from GENCODE V44
Description: Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 3, mRNA. (from RefSeq NM_001171876) RefSeq Summary (NM_001171876): 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]. Gencode Transcript: ENST00000519895.6 Gencode Gene: ENSG00000101977.22 Transcript (Including UTRs) Position: hg38 chrX:139,581,770-139,708,167 Size: 126,398 Total Exon Count: 29 Strand: - Coding Region Position: hg38 chrX:139,582,471-139,651,744 Size: 69,274 Coding Exon Count: 28
ID:MCF2_HUMAN DESCRIPTION: RecName: Full=Proto-oncogene DBL; AltName: Full=Proto-oncogene MCF-2; Contains: RecName: Full=MCF2-transforming protein; Contains: RecName: Full=DBL-transforming protein; 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. INTERACTION: P15531:NME1; NbExp=13; IntAct=EBI-1914514, EBI-741141; SUBCELLULAR LOCATION: Cytoplasm. SUBCELLULAR LOCATION: Isoform 1: Membrane. SUBCELLULAR LOCATION: 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. DOMAIN: The CRAL-TRIO domain is involved in interaction with inositol phospholipids. DOMAIN: The DH domain is essential for transforming activity and directly catalyzes GDP-GTP exchange activity. It may interact with CCPG1. PTM: Phosphorylation by TNK2 enhances guanine nucleotide exchange factor (GEF) activity toward Rho family proteins. DISEASE: Note=MCF2 and DBL represent two activated versions of the same proto-oncogene. SIMILARITY: Belongs to the MCF2 family. SIMILARITY: Contains 1 CRAL-TRIO domain. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 spectrin repeat. SEQUENCE CAUTION: Sequence=AAA52172.1; Type=Erroneous initiation;
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.
ModBase Predicted Comparative 3D Structure on P10911
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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.
Biological Process: GO:0007186 G-protein coupled receptor signaling pathway GO:0035023 regulation of Rho protein signal transduction GO:0035556 intracellular signal transduction GO:0043065 positive regulation of apoptotic process GO:0050771 negative regulation of axonogenesis GO:0051056 regulation of small GTPase mediated signal transduction
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