Gene
pcyt1ab
- ID
- ZDB-GENE-050522-114
- Name
- phosphate cytidylyltransferase 1A, choline b
- Symbol
- pcyt1ab Nomenclature History
- Previous Names
-
- zgc:110012
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable choline-phosphate cytidylyltransferase activity and phosphatidylcholine binding activity. Predicted to act upstream of or within CDP-choline pathway. Predicted to be active in endoplasmic reticulum. Is expressed in swim bladder. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy and spondylometaphyseal dysplasia with cone-rod dystrophy. Orthologous to human PCYT1A (phosphate cytidylyltransferase 1A, choline).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110012 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spondylometaphyseal dysplasia with cone-rod dystrophy | Alliance | Spondylometaphyseal dysplasia with cone-rod dystrophy | 608940 |
| Lipodystrophy, congenital generalized, type 5 | 620680 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Choline-phosphate cytidylyltransferase Pcy1-like | CTP:phosphocholine cytidylyltransferase domain | Cytidyltransferase-like domain | Rossmann-like alpha/beta/alpha sandwich fold |
|---|---|---|---|---|---|
|
UniProtKB:Q503Y3
|
359 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pcyt1ab-201
(1)
|
Ensembl | 1,080 nt |
Interactions and Pathways
No data available
Plasmids
No data available