DENND1A 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 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]
Details
| Type | Processed Transcript |
| Official Symbol | DENND1A |
| Official Name | DENN domain containing 1A [Source:HGNC Symbol;Acc:HGNC:29324] |
| Ensembl ID | ENSG00000119522 |
| Bio databases IDs | |
| Aliases | DENN domain containing 1A, connecdenn 1 |
| Synonyms | 6030446I19Rik, CD1, connecdenn, Connecdenn 1, DENN domain containing 1A, FAM31A, KIAA1608, RGD1307927 |
| 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 DENND1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Akt phosphorylation site
- DENN (AEX-3) domain
- guanyl-nucleotide exchange factor
- dDENN domain
- enzyme binding
- protein binding
- uDENN domain
- SH3-domain binding
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- non-insulin-dependent diabetes mellitus
- polycystic ovary syndrome
- major depression
- rheumatoid arthritis
- migraines
- attention deficit hyperactivity disorder
- opioid dependence
- cataract
- pathologic myopia
role in cell
- expression in
- endocytosis
- transactivation in
- biosynthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cytoplasmic vesicle membrane
- intracellular membrane-bounded organelle
- cellular membrane
- cytosol
- synapse
- perikaryon
- dendrites
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DENND1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of Rab protein signal transduction
- protein transport
- endocytosis
- endocytic recycling
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- intracellular membrane-bounded organelle
- cytosol
- clathrin-coated vesicle
- cell projection
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- guanyl-nucleotide exchange factor activity
- phosphatidylinositol-3-phosphate binding