Version: 8.0.0Date: Tue Jan 28 2025
Gene
Psap
- Species
- Mus musculus
- Symbol
- Psap
- Name
- prosaposin
- Synonyms
- AI037048
- expressed sequence AI037048
- Biotype
- protein coding gene
- Automated Description
- Enables G protein-coupled receptor binding activity; identical protein binding activity; and lipid antigen binding activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; cellular response to reactive oxygen species; and positive regulation of MAPK cascade. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including glycosylceramide metabolic process; prostate gland development; and protein transport. Located in aggresome; extracellular region; and lysosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and sensory organ. Used to study Gaucher's disease; Krabbe disease; combined saposin deficiency; and metachromatic leukodystrophy. 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 human PSAP (prosaposin).
- MGI Description
- PHENOTYPE: Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11480
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr10:60113449...60138376 + (24.93 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.