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 Domain Containing 1B) is a Protein Coding gene. Diseases associated with DENND1B include Interleukin-7 Receptor Alpha Deficiency. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND1A.
UniProtKB/Swiss-Prot for DENND1B Gene
Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells (PubMed:20154091, PubMed:20937701, PubMed:24520163, PubMed:26774822). Acts by promoting the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form (PubMed:20154091, PubMed:20937701). Plays a role in clathrin-mediated endocytosis (PubMed:20154091). Controls cytokine production in TH2 lymphocytes by controlling the rate of TCR internalization and routing to endosomes: acts by mediating clathrin-mediated endocytosis of TCR via its interaction with the adapter protein complex 2 (AP-2) and GEF activity (PubMed:26774822). Dysregulation leads to impaired TCR down-modulation and recycling, affecting cytokine production in TH2 cells (PubMed:26774822).