Aliases for DENND1B Gene
External Ids for DENND1B Gene
Previous HGNC Symbols for DENND1B Gene
Previous GeneCards Identifiers for DENND1B Gene
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, 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 DENND1B Gene
DENND1B (DENN/MADD Domain Containing 1B) is a Protein Coding gene. Diseases associated with DENND1B include interleukin-7 receptor alpha deficiency and autoimmune disease of urogenital tract. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND2C.
UniProtKB/Swiss-Prot for DENND1B Gene
Guanine nucleotide exchange factor (GEF) for RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. May play a role in clathrin-mediated endocytosis.