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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
phosphate cytidylyltransferase 1A, choline
Summary
- Gene Symbol
-
- PCYT1A
- Aliases
-
- CCTalpha
- CT
- CTP:phosphocholine cytidylyltransferase-alpha
- CTPCT
- choline-phosphate cytidylyltransferase alpha
- phosphate cytidylyltransferase 1, choline, alpha isoform
- phosphorylcholine transferase alpha
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Coiled coil
- Cone-rod dystrophy
- Congenital generalized lipodystrophy
- Cytoplasm
- Diabetes mellitus
- Disease variant
- Dwarfism
- Endoplasmic reticulum
- Membrane
- Nucleotidyltransferase
- Nucleus
- Phospholipid biosynthesis
- Phosphoprotein
- Reference proteome
- Repeat
- Ubl conjugation
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| CDP-choline pathway | ||
| phosphatidylcholine biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| glycogen granule | ||
| nuclear envelope | ||
| endoplasmic reticulum | ||
| cytosol |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| choline-phosphate cytidylyltransferase activity | ||
| protein homodimerization activity | ||
| molecular function inhibitor activity | ||
| phosphatidylcholine binding | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11661 | blue color blindness | |
| DOID:11712 | lipoatrophic diabetes mellitus | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11782 | astigmatism | |
| DOID:11830 | myopia | |
| DOID:11832 | visual epilepsy | |
| DOID:11843 | coronary artery anomaly | |
| DOID:11847 | coronary thrombosis | |
| DOID:11870 | Pick's disease | |
| DOID:11934 | head and neck cancer |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000926 | Platyspondyly |
| HP:0000946 | Hypoplastic ilia |
| HP:0001105 | Retinal atrophy |
| HP:0001132 | Lens subluxation |
| HP:0001141 | Severely reduced visual acuity |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| Disease ID | Disease Name |
|---|---|
| ORPHA:65 |
|
| ORPHA:85167 |
|
| OMIM:608940 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001277
- Gene Name
- phosphate cytidylyltransferase 1, choline, alpha
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 113483310 | ATHCN11435 | ||
| 105808100 | PROCO00885 | ||
| 853116 | SGD:S000003434 | ||
| 109065111 | CYPCA69525 | ||
| 109101880 | CYPCA40526 | ||
| 103738517 | NANGA17719 | ||
| 116448767 | CORMO00556 | ||
| 115612331 | STRHB11759 |
