Gene
ptdss1b
- ID
- ZDB-GENE-081031-18
- Name
- phosphatidylserine synthase 1b
- Symbol
- ptdss1b Nomenclature History
- Previous Names
-
- si:ch211-153f2.6
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable L-serine-phosphatidylethanolamine phosphatidyltransferase activity. Predicted to be involved in phosphatidylserine biosynthetic process. Predicted to act upstream of or within phospholipid biosynthetic process. Predicted to be located in endoplasmic reticulum 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
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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:A0A8N7T7D0
|
464 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ptdss1b-201
(1)
|
Ensembl | 1,854 nt | ||
| mRNA |
ptdss1b-202
(1)
|
Ensembl | 1,341 nt |
Interactions and Pathways
No data available
Plasmids
No data available