MON2 is a 1,718 amino acid protein that exists as multiple alternatively spliced isoforms and plays an important role in membrane trafficking. Related to the guanine nucleotide exchange factors (GEFs), MON2 shares significant homology with BIG as well as the GSF (Golgi brefeldin A resistance factor) subfamilies of proteins. MON2 acts as a scaffold protein when associated with Dopey-1, a large cytoplasmic protein involved in trafficking between the late golgi and early endosomes. MON2 is homologous to the yeast protein and is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.
Function:
May be required for traffic between late Golgi and early endosomes.
Similarity:
Belongs to the MON2 family.
SWISS:
Q7Z3U7
Gene ID:
23041
Database links:
Entrez Gene: 23041 Human
Entrez Gene: 314894 Rat
SwissProt: Q7Z3U7 Human
Unigene: 389378 Human
Unigene: 154642 Rat
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