EHD3 Gene Summary [Human]
Predicted to enable nucleic acid binding activity. Involved in several processes, including Golgi to lysosome transport; endosomal transport; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | EHD3 |
| Official Name | EH domain containing 3 [Source:HGNC Symbol;Acc:HGNC:3244] |
| Ensembl ID | ENSG00000013016 |
| Bio databases IDs | |
| Aliases | EH domain containing 3 |
| Synonyms | Ehd2, EH-domain containing 3, PAST3 |
| 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 EHD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF5600)
- nucleic acid binding
- 50S ribosome-binding GTPase
- EFh
- Eps15 homology domain
- protein binding
- acidic domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- Cytoskeletal-regulatory complex EF hand
- Dynamin family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- experimental autoimmune encephalomyelitis
- hepatocellular carcinoma
- liver cancer
- mesangiolysis
- androgenic alopecia
- ulcerative colitis
- atrial ventricular block
- proteinuria
- sinus pause
role in cell
- proliferation
- effacement
- abnormal morphology
- localization in
- thickness
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
- plasma membrane fraction
- myelin enriched fraction
- low-density microsomal fraction
- cilia
- perinuclear region
- Nucleus
- Plasma Membrane
- lipid droplets
- microsome
- endosomal membrane
- endocytotic vesicle
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EHD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell membrane potential
- cilium morphogenesis
- protein transport
- protein homooligomerization
- early endosome to Golgi transport
- Golgi to lysosome transport
- endocytosis
- regulation of cardiac muscle contraction
- protein localization in plasma membrane
- endocytic recycling
- receptor recycling
Cellular Component
Where in the cell the gene product is active
- endocytic vesicle
- nucleus
- early endosome
- perinuclear region of cytoplasm
- focal adhesion
- cytoplasm
- cytosol
- endosome membrane
- recycling endosome membrane
- flagellar pocket membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- nucleic acid binding
- ATP binding
- protein binding
- calcium ion binding