Homo sapiens Gene: PSAP
Summary
InnateDB Gene IDBG-77686.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PSAP
Gene Name prosaposin
Synonyms GLBA; SAP1
Species Homo sapiens
Ensembl Gene ENSG00000197746
Encoded Proteins
prosaposin
prosaposin
prosaposin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:71816298-71851369
Strand Reverse strand
Band q22.1
Transcripts
ENST00000394936 ENSP00000378394
ENST00000394934 ENSP00000378392
ENST00000495196
ENST00000493143
ENST00000610929 ENSP00000480857
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 48 [view]
Protein-Protein 48 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008047 enzyme activator activity
GO:0008289 lipid binding
Biological Process
GO:0002576 platelet degranulation
GO:0006629 lipid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006869 lipid transport
GO:0007596 blood coagulation
GO:0019216 regulation of lipid metabolic process
GO:0030168 platelet activation
GO:0043085 positive regulation of catalytic activity
GO:0043408 regulation of MAPK cascade
GO:0044281 small molecule metabolic process
GO:0048589 developmental growth
GO:0060736 prostate gland growth
GO:0060742 epithelial cell differentiation involved in prostate gland development
GO:0071310 cellular response to organic substance
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016021 integral component of membrane
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Platelet degranulation pathway
Response to elevated platelet cytosolic Ca2+ pathway
Peptide ligand-binding receptors pathway
Class A/1 (Rhodopsin-like receptors) pathway
Glycosphingolipid metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Signaling by GPCR pathway
Platelet activation, signaling and aggregation pathway
Signal Transduction pathway
GPCR ligand binding pathway
Metabolism pathway
Hemostasis pathway
KEGG
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL C9JIZ6
UniProt Splice Variant
Entrez Gene 5660
UniGene Hs.523004 Hs.705948
RefSeq NM_001042465 NM_001042466 NM_002778
HUGO HGNC:9498
OMIM 176801
CCDS CCDS7311
HPRD 01460
IMGT
EMBL AC073370 AL731541
GenPept
RNA Seq Atlas 5660