Prosaposin

Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)
File:PBB Protein PSAP image.jpg PDB rendering based on 1m12.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1m12​, 1n69​, 1sn6​, 2dob​, 2gtg​
Identifiers
Symbols	PSAP ; SAP1; FLJ00245; GLBA; MGC110993
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37680
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PSAP 200866 s at tn.png
File:PBB GE PSAP 200871 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Prosaposin is a protein associated with Gaucher disease.

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.

Further reading

• Gieselmann V, Zlotogora J, Harris A; et al. (1995). "Molecular genetics of metachromatic leukodystrophy". Hum. Mutat. 4 (4): 233–42. doi:10.1002/humu.1380040402. PMID 7866401.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schnabel D, Schröder M, Fürst W; et al. (1992). "Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene". J. Biol. Chem. 267 (5): 3312–5. PMID 1371116.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hiraiwa M, Soeda S, Kishimoto Y, O'Brien JS (1993). "Binding and transport of gangliosides by prosaposin". Proc. Natl. Acad. Sci. U.S.A. 89 (23): 11254–8. PMID 1454804.CS1 maint: Multiple names: authors list (link)
• Rorman EG, Scheinker V, Grabowski GA (1992). "Structure and evolution of the human prosaposin chromosomal gene". Genomics. 13 (2): 312–8. PMID 1612590.CS1 maint: Multiple names: authors list (link)
• Kondoh K, Hineno T, Sano A, Kakimoto Y (1992). "Isolation and characterization of prosaposin from human milk". Biochem. Biophys. Res. Commun. 181 (1): 286–92. PMID 1958198.CS1 maint: Multiple names: authors list (link)
• Holtschmidt H, Sandhoff K, Fürst W; et al. (1991). "The organization of the gene for the human cerebroside sulfate activator protein". FEBS Lett. 280 (2): 267–70. PMID 2013321.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Holtschmidt H, Sandhoff K, Kwon HY; et al. (1991). "Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease". J. Biol. Chem. 266 (12): 7556–60. PMID 2019586.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hineno T, Sano A, Kondoh K; et al. (1991). "Secretion of sphingolipid hydrolase activator precursor, prosaposin". Biochem. Biophys. Res. Commun. 176 (2): 668–74. PMID 2025281.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schnabel D, Schröder M, Sandhoff K (1991). "Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease". FEBS Lett. 284 (1): 57–9. PMID 2060627.CS1 maint: Multiple names: authors list (link)
• Zhang XL, Rafi MA, DeGala G, Wenger DA (1991). "The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy". Hum. Genet. 87 (2): 211–5. PMID 2066109.CS1 maint: Multiple names: authors list (link)
• Fürst W, Schubert J, Machleidt W; et al. (1990). "The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein". Eur. J. Biochem. 192 (3): 709–14. PMID 2209618.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rafi MA, Zhang XL, DeGala G, Wenger DA (1990). "Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy". Biochem. Biophys. Res. Commun. 166 (2): 1017–23. PMID 2302219.CS1 maint: Multiple names: authors list (link)
• Kretz KA, Carson GS, Morimoto S; et al. (1990). "Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect". Proc. Natl. Acad. Sci. U.S.A. 87 (7): 2541–4. PMID 2320574.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nakano T, Sandhoff K, Stümper J; et al. (1989). "Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator". J. Biochem. 105 (2): 152–4. PMID 2498298.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rorman EG, Grabowski GA (1990). "Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats". Genomics. 5 (3): 486–92. PMID 2515150.
• Morimoto S, Martin BM, Yamamoto Y; et al. (1989). "Saposin A: second cerebrosidase activator protein". Proc. Natl. Acad. Sci. U.S.A. 86 (9): 3389–93. PMID 2717620.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dewji NN, Wenger DA, O'Brien JS (1988). "Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor". Proc. Natl. Acad. Sci. U.S.A. 84 (23): 8652–6. PMID 2825202.CS1 maint: Multiple names: authors list (link)
• O'Brien JS, Kretz KA, Dewji N; et al. (1988). "Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus". Science. 241 (4869): 1098–101. PMID 2842863.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Morimoto S, Martin BM, Kishimoto Y, O'Brien JS (1988). "Saposin D: a sphingomyelinase activator". Biochem. Biophys. Res. Commun. 156 (1): 403–10. PMID 2845979.CS1 maint: Multiple names: authors list (link)
• Dewji N, Wenger D, Fujibayashi S; et al. (1986). "Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator". Biochem. Biophys. Res. Commun. 134 (2): 989–94. PMID 2868718.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• Saposins at the US National Library of Medicine Medical Subject Headings (MeSH)