HEATR5B Gene Summary [Human]
Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | HEATR5B |
| Official Name | HEAT repeat containing 5B [Source:HGNC Symbol;Acc:HGNC:29273] |
| Ensembl ID | ENSG00000008869 |
| Bio databases IDs | |
| Aliases | HEAT repeat containing 5B |
| Synonyms | 2010013B10Rik, A230048G03Rik, D330050P16Rik, HEAT repeat containing 5B, KIAA1414, mKIAA1414, p200, p200a |
| 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 HEATR5B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Laa1/Sip1/HEATR5 HEAT repeat region
- 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
- neoplasia
- non-insulin-dependent diabetes mellitus
- glioma formation
- immunodeficiency
- low-grade glioma
- dyslexia
- heart failure
- high grade glioma
- glioma cancer
- congenital pontocerebellar hypoplasia
role in cell
- expression in
- proliferation
- formation in
- glycolysis in
- motility
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- Golgi Apparatus
- cytosol
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HEATR5B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transport
- protein localization
- endocytosis
- retrograde transport, endosome to Golgi
Cellular Component
Where in the cell the gene product is active
- endocytic vesicle
- perinuclear region of cytoplasm
- intracellular membrane-bounded organelle
- nuclear speck
- membrane
- cytosol
- clathrin-coated vesicle
Molecular Function
What the gene product does at the molecular level
- protein binding