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Aliases for PSAP Gene

Aliases for PSAP Gene

  • Prosaposin 2 3
  • SAP1 3 4 6
  • Sphingolipid Activator Protein-1 2 3
  • Proactivator Polypeptide 3 4
  • GLBA 3 4
  • Variant Gaucher Disease And Variant Metachromatic Leukodystrophy 2

External Ids for PSAP Gene

Previous HGNC Symbols for PSAP Gene

  • SAP1
  • GLBA

Previous GeneCards Identifiers for PSAP Gene

  • GC10M072354
  • GC10M072679
  • GC10M073468
  • GC10M072920
  • GC10M073246
  • GC10M073576
  • GC10M067569

Summaries for PSAP Gene

Entrez Gene Summary for PSAP Gene

  • 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]

GeneCards Summary for PSAP Gene

PSAP (Prosaposin) is a Protein Coding gene. Diseases associated with PSAP include gaucher disease, atypical and krabbe disease, atypical. Among its related pathways are Hemostasis and Hemostasis. GO annotations related to this gene include lipid binding and enzyme activator activity. An important paralog of this gene is SFTPB.

UniProtKB/Swiss-Prot for PSAP Gene

  • Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate

  • Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases

  • Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12)

  • Prosaposin: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.

  • Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases

Gene Wiki entry for PSAP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSAP Gene

Genomics for PSAP Gene

Regulatory Elements for PSAP Gene

Genomic Location for PSAP Gene

Start:
71,816,298 bp from pter
End:
71,851,369 bp from pter
Size:
35,072 bases
Orientation:
Minus strand

Genomic View for PSAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PSAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSAP Gene

Proteins for PSAP Gene

  • Protein details for PSAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07602-SAP_HUMAN
    Recommended name:
    Prosaposin
    Protein Accession:
    P07602
    Secondary Accessions:
    • P07292
    • P15793
    • P78538
    • P78541
    • P78546
    • P78547
    • P78558
    • Q53Y86
    • Q6IBQ6
    • Q92739
    • Q92740
    • Q92741
    • Q92742

    Protein attributes for PSAP Gene

    Size:
    524 amino acids
    Molecular mass:
    58113 Da
    Quaternary structure:
    • Saposin-B is a homodimer. Prosaposin exists as a roughly half-half mixture of monomers and disulfide-linked dimers. Monomeric prosaposin interacts (via C-terminus) with sortilin/SORT1, the interaction is required for targeting to lysosomes.
    Miscellaneous:
    • Saposin-B co-purifies with 1 molecule of phosphatidylethanolamine

    Three dimensional structures from OCA and Proteopedia for PSAP Gene

    Alternative splice isoforms for PSAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSAP Gene

Proteomics data for PSAP Gene at MOPED

Post-translational modifications for PSAP Gene

  • N-linked glycans show a high degree of microheterogeneity.
  • The lysosomal precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins
  • The one residue extended Saposin-B-Val is only found in 5% of the chains
  • Glycosylation at Asn80, Asn101, Asn215, Asn332, Thr397, Thr401, and Asn426
  • Modification sites at PhosphoSitePlus

Other Protein References for PSAP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PSAP Gene

Domains for PSAP Gene

Gene Families for PSAP Gene

HGNC:

Suggested Antigen Peptide Sequences for PSAP Gene

Graphical View of Domain Structure for InterPro Entry

P07602

UniProtKB/Swiss-Prot:

SAP_HUMAN :
  • P07602
Domain:
  • Contains 2 saposin A-type domains.
  • Contains 4 saposin B-type domains.
genes like me logo Genes that share domains with PSAP: view

Function for PSAP Gene

Molecular function for PSAP Gene

GENATLAS Biochemistry: prosaposin,lysosomal,sphingolipid hydrolase proactivator protein processed to SAPA,SAPB,SAPC,SAPD,ordered 5->3 on the precursor
UniProtKB/Swiss-Prot Function: Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate
UniProtKB/Swiss-Prot Function: Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases
UniProtKB/Swiss-Prot Function: Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12)
UniProtKB/Swiss-Prot Function: Prosaposin: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.
UniProtKB/Swiss-Prot Function: Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases

Gene Ontology (GO) - Molecular Function for PSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding --
GO:0005515 protein binding IPI 20709014
GO:0008047 enzyme activator activity TAS 2717620
GO:0008289 lipid binding TAS 1454804
genes like me logo Genes that share ontologies with PSAP: view
genes like me logo Genes that share phenotypes with PSAP: view

Animal Models for PSAP Gene

MGI Knock Outs for PSAP:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PSAP Gene

Localization for PSAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSAP Gene

Lysosome.
Prosaposin: Secreted. Note=Secreted as a fully glycosylated 70 kDa protein composed of complex glycans. {ECO:0000250 UniProtKB:Q61207}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSAP Gene COMPARTMENTS Subcellular localization image for PSAP gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 4
golgi apparatus 4
endosome 2
mitochondrion 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS 22261194
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PSAP: view

Pathways for PSAP Gene

genes like me logo Genes that share pathways with PSAP: view

Pathways by source for PSAP Gene

Gene Ontology (GO) - Biological Process for PSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006629 lipid metabolic process --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006869 lipid transport TAS 1454804
genes like me logo Genes that share ontologies with PSAP: view

Compounds for PSAP Gene

(41) HMDB Compounds for PSAP Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • Sulfatide (d18:1/24:0)
151122-71-3
LysoSM(d18:0)
  • sphinganine-1-phosphocholine
Not Available
LysoSM(d18:1)
  • C18-Sphingosine phosphocholine
1670-26-4
SM(d16:1/24:1(15Z))
  • Sphingomyelin (d16:1/24:1(15Z))
Not Available
SM(d17:1/24:0)
  • Sphingomyelin (d17:1/24:0)
Not Available

(1) Drugbank Compounds for PSAP Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Di-Stearoyl-3-Sn-Phosphatidylethanolamine
target

(45) Novoseek inferred chemical compound relationships for PSAP Gene

Compound -log(P) Hits PubMed IDs
glucosylceramide 87 16
sulfatide 83.3 17
galactosylceramide 72.6 14
dioleoyl phosphatidylserine 72.2 2
4-methylumbelliferyl-beta-d-glucoside 71.8 1
genes like me logo Genes that share compounds with PSAP: view

Transcripts for PSAP Gene

Unigene Clusters for PSAP Gene

Prosaposin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PSAP

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSAP Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c
SP1: - -
SP2: - - - - - - - - - - -
SP3: -
SP4: -
SP5: -
SP6: -
SP7:
SP8: - -
SP9:

Relevant External Links for PSAP Gene

GeneLoc Exon Structure for
PSAP
ECgene alternative splicing isoforms for
PSAP

Expression for PSAP Gene

mRNA expression in normal human tissues for PSAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSAP Gene

This gene is overexpressed in Whole Blood (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSAP Gene

SOURCE GeneReport for Unigene cluster for PSAP Gene Hs.523004

genes like me logo Genes that share expressions with PSAP: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PSAP Gene

Orthologs for PSAP Gene

This gene was present in the common ancestor of animals.

Orthologs for PSAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSAP 35
  • 99.75 (n)
  • 99.81 (a)
PSAP 36
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSAP 35
  • 85.31 (n)
  • 84.54 (a)
PSAP 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSAP 35
  • 86.88 (n)
  • 85.17 (a)
PSAP 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psap 35
  • 76 (n)
  • 68 (a)
Psap 16
Psap 36
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 35 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Psap 35
  • 77.1 (n)
  • 70.61 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 39 (a)
ManyToMany
PSAP 35
  • 65.47 (n)
  • 59.4 (a)
PSAP 36
  • 58 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64541 35
tropical clawed frog
(Silurana tropicalis)
Amphibia psap 35
  • 55.19 (n)
  • 44.72 (a)
Str.7621 35
zebrafish
(Danio rerio)
Actinopterygii psap 35
  • 59.08 (n)
  • 47.31 (a)
psap 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001082 35
  • 43.97 (n)
  • 31.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sap-r 35
  • 46.19 (n)
  • 32.14 (a)
Sap-r 36
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
OneToMany
Species with no ortholog for PSAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PSAP Gene

ENSEMBL:
Gene Tree for PSAP (if available)
TreeFam:
Gene Tree for PSAP (if available)

Paralogs for PSAP Gene

Paralogs for PSAP Gene

Selected SIMAP similar genes for PSAP Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PSAP: view

Variants for PSAP Gene

Sequence variations from dbSNP and Humsavar for PSAP Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs7869 -- 71,816,550(-) ATGGC(A/C/G)AGCTC utr-variant-3-prime
rs12844 -- 71,816,645(-) TTGCC(C/T)ACATG utr-variant-3-prime
rs14595 -- 71,817,121(+) TGGCC(A/T)CCAGT utr-variant-3-prime
rs720295 -- 71,837,595(+) GACTG(C/T)GCAGA intron-variant
rs727414 -- 71,823,024(-) GGCGT(A/C)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSAP Gene

Variant ID Type Subtype PubMed ID
nsv831910 CNV Loss 17160897
nsv895716 CNV Loss 21882294

Relevant External Links for PSAP Gene

HapMap Linkage Disequilibrium report
PSAP
Human Gene Mutation Database (HGMD)
PSAP

PCR Panel Products

  • Copy Number PCR Panels: for PSAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSAP Gene

Disorders for PSAP Gene

(4) OMIM Diseases for PSAP Gene (176801)

UniProtKB/Swiss-Prot

SAP_HUMAN
  • Combined saposin deficiency (CSAPD) [MIM:611721]: Due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement. {ECO:0000269 PubMed:11309366, ECO:0000269 PubMed:1371116}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]: An atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease, atypical, due to saposin C deficiency (AGD) [MIM:610539]: A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. {ECO:0000269 PubMed:17919309, ECO:0000269 PubMed:2060627}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Krabbe disease, atypical, due to saposin A deficiency (AKRD) [MIM:611722]: A disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. {ECO:0000269 PubMed:15773042}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in PSAP saposin-D region are found in a variant of Tay-Sachs disease (GM2-gangliosidosis).

(39) Novoseek inferred disease relationships for PSAP Gene

Disease -log(P) Hits PubMed IDs
leukodystrophy metachromatic 82.6 16
gaucher disease 78.3 15
sphingolipidoses 77.5 3
krabbe disease 77.3 7
sialidosis 72.1 3

Genatlas disease for PSAP Gene

sphingolipid activator proteins 1 and 2,combined deficiency

Relevant External Links for PSAP

Genetic Association Database (GAD)
PSAP
Human Genome Epidemiology (HuGE) Navigator
PSAP
genes like me logo Genes that share disorders with PSAP: view

Publications for PSAP Gene

  1. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. (PMID: 2060627) Schnabel D. … Sandhoff K. (FEBS Lett. 1991) 3 4 23
  2. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (PMID: 2302219) Rafi M.A. … Wenger D.A. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  3. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. (PMID: 2320574) Kretz K.A. … O'Brien J.S. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 23
  4. Isolation and characterization of prosaposin from human milk. (PMID: 1958198) Kondoh K. … Kakimoto Y. (Biochem. Biophys. Res. Commun. 1991) 3 4 23
  5. Molecular genetics of metachromatic leukodystrophy. (PMID: 7866401) Gieselmann V. … Morris C.P. (Hum. Mutat. 1994) 3 4 23

Products for PSAP Gene

Sources for PSAP Gene

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