Gene
ctps1a
- ID
- ZDB-GENE-030131-808
- Name
- CTP synthase 1a
- Symbol
- ctps1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have CTP synthase activity and identical protein binding activity. Involved in notochord development. Predicted to localize to cytoophidium and cytoplasm. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Is expressed in several structures, including alar plate midbrain region; digestive system; immature eye; nervous system; and pectoral fin bud. Orthologous to human CTPS1 (CTP synthase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb1040 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Dzaki et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 24 | Alliance | Immunodeficiency 24 | 615897 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR017456 | CTP synthase, N-terminal |
Domain | IPR017926 | Glutamine amidotransferase |
Domain | IPR033828 | CTP synthase GATase domain |
Family | IPR004468 | CTP synthase |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR029062 | Class I glutamine amidotransferase-like |
Domain Details Per Protein
Protein | Length | Class I glutamine amidotransferase-like | CTP synthase | CTP synthase GATase domain | CTP synthase, N-terminal | Glutamine amidotransferase | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|
UniProtKB:A3QJW5
|
595 | ||||||
UniProtKB:Q6PEI7
|
591 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
ctps1a-201
(1)
|
Ensembl | 2,223 nt | ||
mRNA |
ctps1a-202
(1)
|
Ensembl | 6,863 nt |
Interactions and Pathways
No data available
Plasmids
No data available