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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 |
|---|---|---|
| endoplasmic reticulum membrane |
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:0110460 | dilated cardiomyopathy 2A | |
| DOID:0110461 | X-linked dilated cardiomyopathy | |
| DOID:0110870 | congenital stationary night blindness 1A | |
| DOID:0111135 | congenital generalized lipodystrophy type 1 | |
| DOID:0111136 | congenital generalized lipodystrophy type 2 | |
| DOID:0111137 | congenital generalized lipodystrophy type 3 | |
| DOID:0111138 | congenital generalized lipodystrophy type 4 | |
| DOID:0111151 | Prinzmetal angina | |
| DOID:0112300 | spondylometaphyseal dysplasia with cone-rod dystrophy | |
| DOID:10003 | sensorineural hearing loss |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000403 | Recurrent otitis media |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000518 | Cataract |
| HP:0000529 | Progressive visual loss |
| HP:0000539 | Abnormality of refraction |
| HP:0000545 | Myopia |
| 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 |
|---|---|---|---|
| 181021 | WB:WBGene00017241 | ||
| 353380 | WB:WBGene00021215 | ||
| 38180 | FB:FBgn0035231 | ||
| 117353 | FB:FBgn0041342 | ||
| 103190455 | CALMI43758 | ||
| 102362955 | LATCH08514 | ||
| 550327 | ZFIN:ZDB-GENE-050417-108 | DANRE29022 | |
| 553770 | ZFIN:ZDB-GENE-050522-114 | ||
| 103031553 | ASTMX09200 | ||
| 103040438 | ASTMX06450 |
