Gene
psap
- ID
- ZDB-GENE-020108-1
- Name
- prosaposin
- Symbol
- psap Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to be involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; regulation of lipid metabolic process; and sphingolipid metabolic process. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in extracellular region and lysosome. Predicted to be active in extracellular space. Is expressed in blood; extension; peripheral olfactory organ; pleuroperitoneal region; and yolk syncytial layer. Human ortholog(s) of this gene implicated in atypical Gaucher's disease due to saposin c deficiency; combined saposin deficiency; and late onset Parkinson's disease. Orthologous to several human genes including PSAP (prosaposin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb759 (14 images)
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 |
|---|---|---|---|
| atypical Gaucher's disease due to saposin c deficiency | Alliance | Gaucher disease, atypical | 610539 |
| combined saposin deficiency | Alliance | Combined SAP deficiency | 611721 |
| metachromatic leukodystrophy | Alliance | Metachromatic leukodystrophy due to SAP-b deficiency | 249900 |
| Krabbe disease, atypical | 611722 | ||
| {Parkinson disease 24, autosomal dominant, susceptibility to} | 619491 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003119 | Saposin A-type domain |
| Domain | IPR007856 | Saposin-like type B, region 1 |
| Domain | IPR008138 | Saposin B type, region 2 |
| Domain | IPR008139 | Saposin B type domain |
| Family | IPR008373 | Saposin |
| Family | IPR021165 | Saposin, chordata |
| Family | IPR051428 | Sphingolipid Activators and Surfactant Proteins |
| Homologous_superfamily | IPR011001 | Saposin-like |
Domain Details Per Protein
| Protein | Length | Saposin | Saposin A-type domain | Saposin B type domain | Saposin B type, region 2 | Saposin, chordata | Saposin-like | Saposin-like type B, region 1 | Sphingolipid Activators and Surfactant Proteins |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z1K3
|
303 | ||||||||
|
UniProtKB:E7FCT1
|
522 | ||||||||
|
UniProtKB:B8JI17
|
520 |
Interactions and Pathways
No data available
Plasmids
No data available