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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 |
|---|---|---|
| isotype switching |
GO Hierarchy
biological process
immune system process [inference]
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| nuclear envelope | ||
| endoplasmic reticulum | ||
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| choline-phosphate cytidylyltransferase activity | ||
| choline-phosphate cytidylyltransferase activity | ||
| choline-phosphate cytidylyltransferase activity | ||
| protein binding | ||
| calmodulin binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- CYTIDYLYLTRANSFERASE
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- J: Translation, ribosomal structure and biogenesis
| Gene Ontology |
|---|
| CDP-choline pathway |
| catalytic activity |
| choline-phosphate cytidylyltransferase activity |
| lipid metabolic process |
| phosphatidylcholine binding |
| phospholipid biosynthetic process |
| InterPro |
|---|
| CTP |
| Choline-phosphate cytidylyltransferase Pcy1-like |
| Cytidyltransferase-like domain |
| Rossmann-like alpha/beta/alpha sandwich fold |
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:0050585 | congenital generalized lipodystrophy | |
| DOID:0112300 | spondylometaphyseal dysplasia with cone-rod dystrophy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003015 | Flared metaphysis |
| HP:0003016 | Metaphyseal widening |
| HP:0003021 | Metaphyseal cupping |
| HP:0003025 | Metaphyseal irregularity |
| HP:0003026 | Short long bone |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0003375 | Narrow greater sciatic notch |
| HP:0003510 | Severe short stature |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| Disease ID | Disease Name |
|---|---|
| OMIM:608940 |
|
| ORPHA:65 |
|
| ORPHA:85167 |
|
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 |
|---|---|---|---|
| 5130 | Xenbase:XB-GENE-1001244 | ||
| 9468 | SGD:S000003434 | ||
| 13026 | MOUSE19381 | ||
| 140544 | RATNO03798 | ||
| 353380 | Xenbase:XB-GENE-1001244 | ||
| 478600 | CANLF13396 | ||
| 550327 | DANRE29022 | ||
| 722105 | MACMU30049 | ||
| 100060318 | HORSE14239 | ||
| 100125779 | BOVIN14695 |
