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 several processes, including adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; prostate gland development; and sphingolipid metabolic process. Predicted to localize to extracellular space and lysosome. Human ortholog(s) of this gene implicated in atypical Gaucher's disease due to saposin c deficiency and combined saposin deficiency. Is expressed in blood; extension; peripheral olfactory organ; pleuroperitoneal region; and yolk syncytial layer. 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