TBC1D5 Gene Summary [Human]
Enables AP-2 adaptor complex binding activity and retromer complex binding activity. Involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; autophagosome; and endosome membrane. Part of retromer complex. Colocalizes with AP-2 adaptor complex and Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TBC1D5 |
| Official Name | TBC1 domain family member 5 [Source:HGNC Symbol;Acc:HGNC:19166] |
| Ensembl ID | ENSG00000131374 |
| Bio databases IDs | |
| Aliases | TBC1 domain family member 5 |
| Synonyms | 1600014N05Rik, LOC100129071, RGD1561626, TBC1 domain family member 5, TBC1 domain family, member 5 |
| 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 TBC1D5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rab-GTPase-TBC domain
- binding protein
- Domain in Tre-2, BUB2p, and Cdc16p
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- Duchenne muscular dystrophy
- epithelial cancer
- schizophrenia
- major depression
- prostatic carcinoma
- prostate cancer
- nicotine withdrawal syndrome
- Parkinson disease
- proliferative diabetic retinopathy
role in cell
- formation
- autophagy by
- development
- development in
- macroautophagy 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.
- Extracellular Space
- intracellular membrane-bounded organelle
- Cytoplasm
- endosomes
- Golgi Apparatus
- endosomal membrane
- autophagic vacuoles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBC1D5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of receptor internalization
- autophagy
- protein transport
- response to starvation
- retrograde transport, endosome to Golgi
- macroautophagy
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- retromer complex
- cytosol
- endosome membrane
- Golgi apparatus
- AP-2 adaptor complex
- autophagic vacuole
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- AP-2 adaptor complex binding