Aliases for DENND1A Gene
External Ids for DENND1A Gene
Previous HGNC Symbols for DENND1A Gene
Previous GeneCards Identifiers for DENND1A Gene
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
GeneCards Summary for DENND1A Gene
DENND1A (DENN Domain Containing 1A) is a Protein Coding gene. Diseases associated with DENND1A include Polycystic Ovary Syndrome and Sex Development Disorder. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND1B.
UniProtKB/Swiss-Prot Summary for DENND1A Gene
Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity).