Gene
ptdss1a
- ID
- ZDB-GENE-040426-837
- Name
- phosphatidylserine synthase 1a
- Symbol
- ptdss1a Nomenclature History
- Previous Names
-
- ptdss1
- zgc:55906 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have transferase activity. Predicted to be involved in phosphatidylserine biosynthetic process. Predicted to localize to endoplasmic reticulum; endoplasmic reticulum membrane; and integral component of membrane. Human ortholog(s) of this gene implicated in Lenz-Majewski hyperostotic dwarfism. Orthologous to human PTDSS1 (phosphatidylserine synthase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
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 |
|---|---|---|---|
| Lenz-Majewski hyperostotic dwarfism | Alliance | Lenz-Majewski hyperostotic dwarfism | 151050 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR004277 | Phosphatidyl serine synthase |
Domain Details Per Protein
| Protein | Length | Phosphatidyl serine synthase |
|---|---|---|
|
UniProtKB:Q803C9
|
465 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ptdss1a-201
(1)
|
Ensembl | 1,996 nt |
Interactions and Pathways
No data available
Plasmids
No data available