• Gene id: 5660

Gene Summary

• Gene Symbol: PSAP   Gene   UCSC   Ensembl
• Aliases: GLBA, SAP1, SAP2
• Gene name: prosaposin
• Alternate names: prosaposin, proactivator polypeptide, saposin-A, saposin-B, saposin-C, saposin-D, sphingolipid activator protein-1, sphingolipid activator protein-2,
• Gene location: 10q22.1 (4734343: 4749395)     Exons: 12     NC_000016.10
• 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 i
• OMIM: 176801

SNPs

rs2241057

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.72134831A>G
NC_000002.11   g.72361960A>G
NG_007957.1   g.18004T>C
NM_019885.3   c.791T>C
NM_001277742.1   c.566T>C
XM_005264433.4   c.617T>C
XM_005264433.1   c.617T>C
XM_011532988.1   c.218T>C
NP_063938.1   p.Leu264Ser
NP_001264671.1   p.Leu189Ser
XP_00  

rs707718

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.72129320G>C
NC_000002.12   g.72129320G>T
NC_000002.11   g.72356449G>C
NC_000002.11   g.72356449G>T
NG_007957.1   g.23515C>G
NG_007957.1   g.23515C>A
NM_019885.3   c.*2907C>G
NM_019885.3   c.*2907C>A
NM_001277742.1   c.*2907C>G
NM_001277742.1   c.*2907C>

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: 58113
• Sequence:

  MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHCLQTVWNKPTVKSLPCDICKDVVTAAGD
  MLKDNATEEEILVYLEKTCDWLPKPNMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNH
  QKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTFVQALVEH
  VKEECDRLGPGMADICKNYISQYSEIAIQMMMHMQPKEICALVGFCDEVKEMPMQTLVPAKVASKNVIPALELVE
  PIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKTEKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEE
  VSPELVCSMLHLCSGTRLPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQKQ
  CDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQNTETAAQCNAVEHCKRHVWN

• Structural information:
  • Protein Domains: (18..5-)
    1 (/note="Saposin-A-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00414-)
    (59..14-)
    1 (/note="Saposin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00415-)
    (194..27-)
    2 (/note="Saposin-B-type)
    (/evidence="ECO:0000255|-)
  • Interpro: IPR003119  IPR007856  IPR008138  IPR008373  IPR011001   IPR021165  IPR008139  
  • Prosite: PS51110 PS50015
  • 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
  • STRING: ENSP00000378394
• Other Databases: GeneCards:  PSAP  Malacards:  PSAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010506	regulation of autophagy	TAS	biological process
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IBA	biological process
GO:0060736	prostate gland growth	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0019216	regulation of lipid metabolic process	IBA	biological process
GO:0060742	epithelial cell differentiation involved in prostate gland development	IBA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0007041	lysosomal transport	IDA	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007041	lysosomal transport	IMP	biological process
GO:0007041	lysosomal transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008289	lipid binding	TAS	molecular function
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0006869	lipid transport	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001865	NK T cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006643	membrane lipid metabolic process	IEA	biological process
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0006683	galactosylceramide catabolic process	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0009306	protein secretion	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0021702	cerebellar Purkinje cell differentiation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0051345	positive regulation of hydrolase activity	IEA	biological process
GO:0060736	prostate gland growth	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:1903206	negative regulation of hydrogen peroxide-induced cell death	IEA	biological process
GO:1903575	cornified envelope assembly	IEA	biological process
GO:1905146	lysosomal protein catabolic process	IEA	biological process
GO:0001664	G protein-coupled receptor binding	IEA	molecular function
GO:0003335	corneocyte development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0006664	glycolipid metabolic process	IEA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0006678	glucosylceramide metabolic process	IEA	biological process
GO:0016235	aggresome	IEA	cellular component
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0030882	lipid antigen binding	IEA	molecular function
GO:0042552	myelination	IEA	biological process
GO:0043408	regulation of MAPK cascade	IEA	biological process
GO:0050877	nervous system process	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0060073	micturition	IEA	biological process
GO:0060742	epithelial cell differentiation involved in prostate gland development	IEA	biological process
GO:0070841	inclusion body assembly	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0090659	walking behavior	IEA	biological process
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:1905574	ganglioside GM2 binding	IDA	molecular function
GO:0004565	beta-galactosidase activity	IDA	molecular function
GO:1905573	ganglioside GM1 binding	IDA	molecular function
GO:1905572	ganglioside GM1 transport to membrane	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:1905575	ganglioside GM3 binding	IDA	molecular function
GO:1905576	ganglioside GT1b binding	IDA	molecular function
GO:1905577	ganglioside GP1c binding	IDA	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Sphingolipidosis	KEGG:H00423
Krabbe disease	KEGG:H00135
Gaucher disease	KEGG:H00126
Metachromatic leukodystrophy	KEGG:H00127
Combined SAP deficiency	KEGG:H01239
Sphingolipidosis	KEGG:H00423
Krabbe disease	KEGG:H00135
Gaucher disease	KEGG:H00126
Metachromatic leukodystrophy	KEGG:H00127
Combined SAP deficiency	KEGG:H01239
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq