FDFT1 Gene Summary [Human]
This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FDFT1 |
| Official Name | farnesyl-diphosphate farnesyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:3629] |
| Ensembl ID | ENSG00000079459 |
| Bio databases IDs | |
| Aliases | farnesyl-diphosphate farnesyltransferase 1, squalene synthase |
| Synonyms | AC270285.2, DGPT, ERG9, Farnesyl diphosphate farnesyl transferase 1, Fdfs1, Fpp farnesyl transferase 1, SQS, SQSD, Squalene synthase, Squalene Synthetase, SS |
| 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 FDFT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Isoprenoid Biosynthesis enzymes, Class 1
- prenyltransferase
- enzyme
- protein binding
- farnesyl-diphosphate farnesyltransferase
Pathways
Biological processes and signaling networks where the FDFT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- osteosarcoma
- HIV infection
- Alzheimer disease
- prostate cancer
- bone neoplasm
- castration refractory prostate cancer
- breast cancer
- renal osteodystrophy
- non-insulin-dependent diabetes mellitus
role in cell
- proliferation
- cell death
- expression in
- migration
- accumulation
- invasion by
- accumulation 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.
- Cytoplasm
- pH resistant lipid raft fraction
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FDFT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cholesterol biosynthetic process
- steroid biosynthetic process
- farnesyl diphosphate metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- farnesyltranstransferase activity
- farnesyl-diphosphate farnesyltransferase activity
- squalene synthase activity