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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:0110450 | dilated cardiomyopathy 1II | |
| DOID:0110451 | dilated cardiomyopathy 1O | |
| DOID:0110452 | dilated cardiomyopathy 1T | |
| DOID:0110453 | dilated cardiomyopathy 1EE | |
| DOID:0110454 | dilated cardiomyopathy 1S | |
| DOID:0110455 | dilated cardiomyopathy 1U | |
| DOID:0110456 | dilated cardiomyopathy 1R | |
| DOID:0110457 | dilated cardiomyopathy 1Y | |
| DOID:0110458 | dilated cardiomyopathy 1BB | |
| DOID:0110459 | dilated cardiomyopathy 1FF |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004565 | Severe platyspondyly |
| HP:0005054 | Metaphyseal spurs |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0006487 | Bowing of the long bones |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0007401 | Macular atrophy |
| HP:0007663 | Reduced visual acuity |
| HP:0007688 | Undetectable light- and dark-adapted electroretinogram |
| HP:0007703 | Abnormality of retinal pigmentation |
| 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 |
|---|---|---|---|
| 101026278 | PAPAN25916 | ||
| 105538767 | MANLE28861 | ||
| 100990415 | PANPA29604 | ||
| 100435111 | PONAB00393 | ||
| 478600 | CANLF13396 | ||
| 112913527 | VULVU04857 | ||
| 123802109 | URSAM10359 | ||
| 100473355 | AILME15356 | ||
| 101682740 | MUSPF16566 | ||
| 101099320 | FELCA23552 |
