DENND1B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DENND1B |
| Official Name | DENN domain containing 1B [Source:HGNC Symbol;Acc:HGNC:28404] |
| Ensembl ID | ENSG00000213047 |
| Bio databases IDs | |
| Aliases | DENN domain containing 1B, connecdenn 2 |
| Synonyms | 4632404N19RIK, 4930467M19RIK, 6820401H01RIK, C1ORF18, C1orf218, CD2, Connecdenn 2, DENN domain containing 1B, F730008N07Rik, FAM31B, FLJ20054 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DENND1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DENN (AEX-3) domain
- guanyl-nucleotide exchange factor
- dDENN domain
- enzyme binding
- protein binding
- uDENN domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myocardial infarction
- depressive disorder
- COVID-19
- major depression
- coronary artery disease
- inflammatory bowel disease
- primary biliary cirrhosis
- Crohn disease
- neuroticism
- exostoses
regulates
- GTPase
- interleukin
role in cell
- function
- abnormal number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- cytosol
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DENND1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transport
- endocytosis
- endocytic recycling
- T cell receptor signaling pathway
- regulation of immune response
- positive regulation of T-helper 2 cell cytokine production
Cellular Component
Where in the cell the gene product is active
- nuclear speck
- intracellular membrane-bounded organelle
- cytosol
- clathrin-coated vesicle
Molecular Function
What the gene product does at the molecular level
- guanyl-nucleotide exchange factor activity
- small GTPase binding