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Gene id

5660

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

PSAP Gene UCSC Ensembl

Aliases

GLBA, SAP1

Gene name

prosaposin

Alternate names

prosaposin, proactivator polypeptide, sphingolipid activator protein-1,

Gene location

10q22.1 (53545128: 53497340) Exons: 16 NC_000006.12

Gene summary(Entrez)

This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including 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 and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

OMIM

176801

Protein Summary

Protein general information

P07602

Name: Prosaposin (Proactivator polypeptide) [Cleaved into: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sphingolipid activator protein 1) (SAP-1) (Sulfatide/GM1 activator); Saposin-C (A1 activator) (Co-bet

Length: 524 Mass: 58,113

Sequence

MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHCLQTVWNKPTVKSLPCDICKDVVTAAGD
MLKDNATEEEILVYLEKTCDWLPKPNMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNH
QKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTFVQALVEH
VKEECDRLGPGMADICKNYISQYSEIAIQMMMHMQPKEICALVGFCDEVKEMPMQTLVPAKVASKNVIPALELVE
PIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKTEKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEE
VSPELVCSMLHLCSGTRLPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQKQ
CDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQNTETAAQCNAVEHCKRHVWN

Structural information

Protein Domains	Saposin (18-58) Saposin (59-142) Saposin (194-275) Saposin (311-392) Saposin (405-486) Saposin (488-524)
Interpro:	IPR003119 IPR007856 IPR008138 IPR008373 IPR011001 IPR021165 IPR008139
Prosite:	PS51110 PS50015
Pfam:	PF02199 PF05184 PF03489
PDB:	1M12 1N69 1SN6 2DOB 2GTG 2QYP 2R0R 2R1Q 2RB3 2Z9A 3BQP 3BQQ 4DDJ 4UEX 4V2O
PDBsum:	1M12 1N69 1SN6 2DOB 2GTG 2QYP 2R0R 2R1Q 2RB3 2Z9A 3BQP 3BQQ 4DDJ 4UEX 4V2O
DIP:	29803
MINT:
STRING:	ENSP00000378394;

Other Databases

GeneCards: PSAP; Malacards: PSAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001664	G-protein coupled recepto r binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	ISS	cellular_component
GO:0005737	cytoplasm	IBA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005765	lysosomal membrane	TAS	cellular_component
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:0006869	lipid transport	TAS	biological_process
GO:0007193	adenylate cyclase-inhibit ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0008047	enzyme activator activity	TAS	molecular_function
GO:0008289	lipid binding	TAS	molecular_function
GO:0010506	regulation of autophagy	TAS	biological_process
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0019216	regulation of lipid metab olic process	IBA	biological_process
GO:0043085	positive regulation of ca talytic activity	IEA	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043410	positive regulation of MA PK cascade	IEA	biological_process
GO:0060736	prostate gland growth	IBA	biological_process
GO:0060742	epithelial cell different iation involved in prosta te gland development	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:1903206	negative regulation of hy drogen peroxide-induced c ell death	IEA	biological_process
GO:0001664	G-protein coupled recepto r binding	IEA	molecular_function
GO:0001664	G-protein coupled recepto r binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	ISS	cellular_component
GO:0005737	cytoplasm	IBA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005765	lysosomal membrane	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006665	sphingolipid metabolic pr ocess	IEA	biological_process
GO:0006665	sphingolipid metabolic pr ocess	IEA	biological_process
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:0006869	lipid transport	TAS	biological_process
GO:0007193	adenylate cyclase-inhibit ing G-protein coupled rec eptor signaling pathway	IEA	biological_process
GO:0007193	adenylate cyclase-inhibit ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0008047	enzyme activator activity	TAS	molecular_function
GO:0008289	lipid binding	TAS	molecular_function
GO:0010506	regulation of autophagy	TAS	biological_process
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0019216	regulation of lipid metab olic process	IEA	biological_process
GO:0019216	regulation of lipid metab olic process	IBA	biological_process
GO:0043085	positive regulation of ca talytic activity	IEA	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043408	regulation of MAPK cascad e	IEA	biological_process
GO:0043410	positive regulation of MA PK cascade	IEA	biological_process
GO:0048589	developmental growth	IEA	biological_process
GO:0060736	prostate gland growth	IEA	biological_process
GO:0060736	prostate gland growth	IBA	biological_process
GO:0060742	epithelial cell different iation involved in prosta te gland development	IEA	biological_process
GO:0060742	epithelial cell different iation involved in prosta te gland development	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:1903206	negative regulation of hy drogen peroxide-induced c ell death	IEA	biological_process
GO:0001664	G-protein coupled recepto r binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	ISS	cellular_component
GO:0005737	cytoplasm	IBA	cellular_component
GO:0005765	lysosomal membrane	TAS	cellular_component
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:0006869	lipid transport	TAS	biological_process
GO:0007193	adenylate cyclase-inhibit ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0008047	enzyme activator activity	TAS	molecular_function
GO:0008289	lipid binding	TAS	molecular_function
GO:0010506	regulation of autophagy	TAS	biological_process
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0019216	regulation of lipid metab olic process	IBA	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0060736	prostate gland growth	IBA	biological_process
GO:0060742	epithelial cell different iation involved in prosta te gland development	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa04142 Lysosome

Diseases

Associated diseases	References
Endometriosis	INFBASE16249290
Metachromatic leukodystrophy due to SAP-b deficiency	OMIM176801
Krabbe disease, atypical	OMIM176801
Gaucher disease, atypical	OMIM176801
Combined SAP deficiency	OMIM176801
Combined SAP deficiency	KEGGH01239
Defects in the degradation of ganglioside	KEGGH00426
Defects in the degradation of sulfatide	KEGGH00423
Metachromatic leukodystrophy (MLD)	KEGGH00127
Krabbe disease	KEGGH00135
Gaucher disease	KEGGH00126

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16249290	Endometrio sis			30 (15 patients undergoing lap aroscopy or hys terectomy for e ndometriosis, 1 5 controls)		IGFBP5 PIM2 RPL41 PSAP FBLN1 SIPL DLX5 HSD11B2 SET and RHOE	Show abstract