Gene
pip5k1ca
- ID
- ZDB-GENE-050208-358
- Name
- phosphatidylinositol-4-phosphate 5-kinase, type I, gamma a
- Symbol
- pip5k1ca Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity and phosphatidylinositol phosphate kinase activity. Predicted to be involved in phosphatidylinositol metabolic process and phosphorylation. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 3. Is expressed in head and pronephric duct. Orthologous to human PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Xu et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Xu et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| lethal congenital contracture syndrome 3 | Alliance | Lethal congenital contractural syndrome 3 | 611369 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Phosphatidylinositol-4/5-phosphate 5/4-kinase | Phosphatidylinositol-4-phosphate 4/5-kinase, core | Phosphatidylinositol-4-phosphate 5-kinase, N-terminal |
|---|---|---|---|---|
|
UniProtKB:A0A8M3B5L6
|
701 | |||
|
UniProtKB:E7F4U5
|
682 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
pip5k1ca-201
(1)
|
Havana | 2558 nt |
Interactions and Pathways
No data available
Plasmids
No data available