PCYT1A
Phosphate Cytidylyltransferase 1A, Choline
Gene Information Card
| Symbol | PCYT1A |
|---|---|
| Full Name | Phosphate Cytidylyltransferase 1A, Choline |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 5130 ncbi.nlm.nih.gov/gene/5130 |
| Ensembl ID | ENSG00000161217 |
| UniProt ID | P49585 |
| OMIM ID | 123695 |
| HGNC ID | 8754 |
| Aliases | CCTalpha, CCT1, CTPCT |
Description
PCYT1A encodes choline-phosphate cytidylyltransferase alpha (CCTα), the rate-limiting enzyme in the CDP-choline pathway for phosphatidylcholine biosynthesis. This enzyme catalyzes the conversion of choline phosphate to CDP-choline. CCTα is essential for membrane lipid homeostasis and is regulated by lipid composition and reversible phosphorylation. Mutations in PCYT1A are associated with hereditary spastic paraplegia type 81 (SPG81) and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 81 (SPG81) | Loss-of-function mutations impair phosphatidylcholine synthesis, leading to axonal degeneration | PMID: 31006510, ClinVar |
| Choline phosphate cytidylyltransferase deficiency | Biallelic variants cause reduced enzyme activity and lipid imbalance | OMIM #123695 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Heart | 7.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma |
| SH-SY5Y | 9.8 | Neuroblastoma |
| A549 | 7.5 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; associated with SPG81 |
| c.847G>A (p.Gly283Arg) | Missense | Rare | Reduced enzyme activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that truncate or abolish CCTα activity lead to phosphatidylcholine deficiency and SPG81.
Gain of Function (GOF)
Not reported for PCYT1A.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • choline-phosphate cytidylyltransferase activity | • phosphatidylcholine biosynthetic process |
| • nucleotidyltransferase activity | • lipid metabolism |
| • membrane |
Pathways
• CDP-choline pathway
• Phosphatidylcholine biosynthesis
• Glycerophospholipid metabolism
Protein Summary
Choline-phosphate cytidylyltransferase alpha (CCTα) is a 367-amino acid protein that exists as a homodimer. It contains a catalytic domain and a membrane-binding amphipathic helix. The enzyme is activated by binding to membranes enriched in anionic phospholipids or fatty acids. CCTα is primarily nuclear in most cell types but can translocate to the endoplasmic reticulum upon activation. Its activity is essential for cell growth and membrane expansion.
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