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Aliases for PSAP Gene

Aliases for PSAP Gene

  • Prosaposin 2 3 5
  • Sphingolipid Activator Protein-1 2 3
  • Proactivator Polypeptide 3 4
  • SAP1 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 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]

GeneCards Summary for PSAP Gene

PSAP (Prosaposin) is a Protein Coding gene. Diseases associated with PSAP include gaucher disease, atypical and metachromatic leukodystrophy due to sap-b deficiency. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include lipid binding and enzyme activator activity. An important paralog of this gene is PSAPL1.

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

Promoters for PSAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSAP on UCSC Golden Path with GeneCards custom track

Genomic Location for PSAP Gene

Chromosome:
10
Start:
71,816,298 bp from pter
End:
71,851,375 bp from pter
Size:
35,078 bases
Orientation:
Minus strand

Genomic View for PSAP Gene

Genes around PSAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 80, Asn 101, Asn 215, Asn 332, Thr 401, and Asn 426
  • Modification sites at PhosphoSitePlus

Other Protein References for PSAP Gene

Antibody Products

No data available for DME Specific Peptides for PSAP Gene

Domains & Families for PSAP Gene

Gene Families for PSAP Gene

Suggested Antigen Peptide Sequences for PSAP Gene

Graphical View of Domain Structure for InterPro Entry

P07602

UniProtKB/Swiss-Prot:

SAP_HUMAN :
  • Contains 2 saposin A-type domains.
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 IBA --
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

Human Phenotype Ontology for PSAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSAP Gene

MGI Knock Outs for PSAP:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 3
mitochondrion 3
plasma membrane 3
endosome 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for PSAP Gene

Pathways & Interactions 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:0006665 sphingolipid metabolic process IEA --
GO:0006869 lipid transport TAS 1454804
GO:0010506 regulation of autophagy TAS 22949512
GO:0030168 platelet activation TAS --
GO:0043085 positive regulation of catalytic activity TAS 2717620
genes like me logo Genes that share ontologies with PSAP: view

No data available for SIGNOR curated interactions for PSAP Gene

Drugs & Compounds for PSAP Gene

(17) Drugs for PSAP Gene - From: Novoseek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Di-Stearoyl-3-Sn-Phosphatidylethanolamine Experimental Pharma Target 0

(70) Additional Compounds for PSAP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • 3-O-Sulphogalactosylceramide
151122-71-3
LysoSM(d18:0)
  • Lysosphingomyelin
  • SM(d18:0/0:0)
  • Sphinganine-1-phosphocholine
  • Sphingomyelin(d18:0/0:0)
LysoSM(d18:1)
  • C18-Sphingosine phosphocholine
  • D-Erythro-sphingosylphosphorylcholine
  • Lysosphingomyelin
  • SM(d18:1/0:0)
  • Sphing-4-enine-1-phosphocholine
1670-26-4
SM(d16:1/24:1(15Z))
  • SPH(d16:1/24:1(15Z))
  • Sphingomyelin (d16:1/24:1(15Z))
SM(d17:1/24:0)
  • SPH(d17:1/24:0)
  • Sphingomyelin (d17:1/24:0)
genes like me logo Genes that share compounds with PSAP: view

Transcripts for PSAP Gene

Unigene Clusters for PSAP Gene

Prosaposin:
Representative Sequences:

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 (x4.5).

Protein differential expression in normal tissues from HIPED for PSAP Gene

This gene is overexpressed in Amniocyte (34.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PSAP: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia PSAP 35
  • 99.75 (n)
  • 99.81 (a)
PSAP 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psap 35
  • 77.1 (n)
  • 70.61 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 35 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves PSAP 35
  • 65.47 (n)
  • 59.4 (a)
-- 36
  • 39 (a)
ManyToMany
PSAP 36
  • 58 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia psap 35
  • 55.19 (n)
  • 44.72 (a)
Str.7621 35
African clawed frog
(Xenopus laevis)
Amphibia MGC64541 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

(1) 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
VAR_006943 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
VAR_006944 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
VAR_006945 Gaucher disease, atypical, due to saposin C deficiency (AGD)
VAR_031823 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
VAR_031899 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)

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

Variation tolerance for PSAP Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSAP Gene

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

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

Disorders for PSAP Gene

MalaCards: The human disease database

(33) MalaCards diseases for PSAP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gaucher disease, atypical
  • atypical gaucher disease due to saposin c deficiency
metachromatic leukodystrophy due to sap-b deficiency
  • metachromatic leukodystrophy due to saposin b deficiency
krabbe disease, atypical
  • krabbe disease atypical due to saposin a deficiency
combined sap deficiency
  • combined saposin deficiency
encephalopathy due to prosaposin deficiency
  • combined sap deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PSAP in MalaCards View complete list of genes associated with diseases

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.
  • 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.
  • 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.
  • Note=Defects in PSAP saposin-D region are found in a variant of Tay-Sachs disease (GM2-gangliosidosis).

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSAP
genes like me logo Genes that share disorders with PSAP: view

Publications for PSAP Gene

  1. Saposin A: second cerebrosidase activator protein. (PMID: 2717620) Morimoto S. … Kishimoto Y. (Proc. Natl. Acad. Sci. U.S.A. 1989) 2 3 4 67
  2. Prosaposin down-modulation decreases metastatic prostate cancer cell adhesion, migration, and invasion. (PMID: 20132547) Hu S. … Koochekpour S. (Mol. Cancer 2010) 3 23
  3. Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. (PMID: 19267410) Kuchar L. … Harzer K. (Am. J. Med. Genet. A 2009) 3 23
  4. Prosaposin inhibits tumor metastasis via paracrine and endocrine stimulation of stromal p53 and Tsp-1. (PMID: 19581582) Kang S.Y. … Watnick R.S. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  5. Prosaposin is an AR-target gene and its neurotrophic domain upregulates AR expression and activity in prostate stromal cells. (PMID: 18481277) Koochekpour S. … Garay J. (J. Cell. Biochem. 2008) 3 23

Products for PSAP Gene

Sources for PSAP Gene

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