CTPS1 Gene Summary [Human]
This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Retained Intron |
| Official Symbol | CTPS1 |
| Official Name | CTP synthase 1 [Source:HGNC Symbol;Acc:HGNC:2519] |
| Ensembl ID | ENSG00000171793 |
| Bio databases IDs | |
| Aliases | CTP synthase 1 |
| Synonyms | CTP A, CTPS, CTP synthase 1, CTP Synthetase, cytidine 5'-triphosphate synthase 1, GATD5, GATD5A, IMD24 |
| 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 CTPS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CTP binding site
- Glutamine amidotransferase class-I
- CTP synthase N-terminus
- CTP synthase
- enzyme
- protein binding
- identical protein binding
- Type 1 glutamine amidotransferase (GATase1)-like domain
- P-loop containing Nucleoside Triphosphate Hydrolases
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
- severe combined immunodeficiency
- immunodeficiency 24
- androgenic alopecia
- adenoid cystic carcinoma
role in cell
- proliferation
- phosphorylation in
- expression in
- apoptosis
- G1 phase
- transmembrane potential
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CTPS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- CTP biosynthetic process
- 'de novo' CTP biosynthetic process
- T cell proliferation
- glutamine metabolic process
- B cell proliferation
- response to xenobiotic stimulus
- nucleobase-containing compound metabolic process
- pyrimidine base biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytoophidium
- cytoplasm
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- protein binding
- CTP synthase activity