FAM83H Gene Summary [Human]
The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | FAM83H |
| Official Name | family with sequence similarity 83 member H [Source:HGNC Symbol;Acc:HGNC:24797] |
| Ensembl ID | ENSG00000180921 |
| Bio databases IDs | |
| Aliases | family with sequence similarity 83 member H |
| Synonyms | AI3, AI3A, family with sequence similarity 83 member H, family with sequence similarity 83, member H, FLJ46072, RGD1305866 |
| 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 FAM83H often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- intermediate filament binding
- protein kinase binding
- FAM83 A-H
- PLD-like domain
- protein binding
- Catalytic domain of phospholipase D superfamily proteins
- Spt5 C-terminal nonapeptide repeat binding Spt4
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cytosol
- keratin intermediate filaments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAM83H gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization to cytoskeleton
- signal transduction
- intermediate filament cytoskeleton organization
- biomineral tissue development
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- keratin filament
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding