FTCD Gene Summary [Human]
The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | FTCD |
| Official Name | formimidoyltransferase cyclodeaminase [Source:HGNC Symbol;Acc:HGNC:3974] |
| Ensembl ID | ENSG00000160282 |
| Bio databases IDs | |
| Aliases | formimidoyltransferase cyclodeaminase |
| Synonyms | formimidoyltransferase cyclodeaminase, formiminotransferase cyclodeaminase, GOLGI 58K, LCHC1 |
| 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 FTCD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- microtubule binding
- intermediate filament binding
- formiminotetrahydrofolate cyclodeaminase
- Formiminotransferase domain
- enzyme
- protein binding
- Formiminotransferase-cyclodeaminase
- glutamate formiminotransferase
- Formiminotransferase domain, N-terminal subdomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glutamate formiminotransferase deficiency
- organismal death
- hereditary disorder
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- diabetic nephropathy
- hepatitis B virus-related hepatocellular carcinoma
- mastocytosis
- diethylnitrosamine-induced hepatocellular carcinoma
regulates
- VIM
- folic acid and derivative
- L-histidine
role in cell
- organization
- binding
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
- Golgi-centrosome region
- perinuclear region
- Plasma Membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- ER-to-Golgi intermediate compartment
- cytosol
- uropod
- Golgi membrane
- secretory vesicles
- smooth endoplasmatic reticulum
- smooth microsomes
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FTCD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cytoskeleton organization
- folic acid-containing compound metabolic process
- histidine catabolic process to glutamate and formate
- histidine catabolic process to glutamate and formamide
Cellular Component
Where in the cell the gene product is active
- smooth endoplasmic reticulum membrane
- extracellular vesicular exosome
- cytoplasm
- centriole
- cytosol
- Golgi membrane
- Golgi apparatus
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- glutamate formimidoyltransferase activity
- folic acid binding
- microtubule binding
- formimidoyltetrahydrofolate cyclodeaminase activity