PCYT1A Gene Summary [Human]
This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | PCYT1A |
| Official Name | phosphate cytidylyltransferase 1, choline, alpha [Source:HGNC Symbol;Acc:HGNC:8754] |
| Ensembl ID | ENSG00000161217 |
| Bio databases IDs | |
| Aliases | phosphate cytidylyltransferase 1, choline, alpha, phosphate cytidylyltransferase 1A, choline, phosphate cytidylyltransferase 1, choline, alpha isoform, CTP:phosphocholine cytidylyltransferase-alpha, choline-phosphate cytidylyltransferase alpha, phosphorylcholine transferase alpha |
| Synonyms | CCTA, CCT-alpha, CCT-α, CGL5, CT, CTA, CTalpha, CTP, CTPCT, Cttalpha, Ct α, LOC100911343, PCYT1, phosphate cytidylyltransferase 1A, choline, phosphate cytidylyltransferase 1, choline, alpha isoform, phosphate cytidylyltransferase 1, choline, α isoform, SMDCRD |
| 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 PCYT1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- lipid binding
- membrane-association domain
- calmodulin binding
- catalytic domain
- calmodulin binding domain
- alpha helix
- nuclear localization sequence
- calpain cleavage site
- enzyme
- protein binding
- identical protein binding
- phosphorylation site
- PEST domain
- choline-phosphate cytidylyltransferase
- Cytidylyltransferase-like
- binding protein
- cytidyltransferase-like domain
- protein homodimerization
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- lipodystrophy
- spondylometaphyseal dysplasia with cone-rod dystrophy
- Leber congenital amaurosis type 1
- congenital generalized lipodystrophy type 5
- nonalcoholic fatty liver disease
- hereditary disorder
role in cell
- expression in
- growth
- number
- differentiation
- proliferation
- quantity
- activation in
- accumulation in
- deposition in
- accumulation
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
- perinuclear region
- cellular membrane
- Nucleus
- Plasma Membrane
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- nucleoplasm
- perinuclear space
- nuclear envelope
- nuclear lamina
- alveolar epithelial lamellar bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PCYT1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- CDP-choline pathway
- phosphatidylcholine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear envelope
- nucleus
- cytosol
- endoplasmic reticulum
- glycogen granule
Molecular Function
What the gene product does at the molecular level
- choline-phosphate cytidylyltransferase activity
- identical protein binding
- calmodulin binding
- protein homodimerization activity
- protein binding
- phosphatidylcholine binding