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Aliases for PSAP Gene

Aliases for PSAP Gene

  • Prosaposin 2 3 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 Combined Sap Deficiency. Among its related pathways are Peptide ligand-binding receptors and Innate Immune System. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSAP Gene

Genomics for PSAP Gene

Regulatory Elements for PSAP Gene

Enhancers for PSAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G071887 2 FANTOM5 Ensembl ENCODE dbSUPER 22.3 -38.9 -38866 5.0 HDGF FOXA2 PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 CBX5 FOS PSAP C10orf105 VSIR DNAJB12 DDIT4 ENSG00000230526 GC10M071945
GH10G072294 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -445.7 -445736 5.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 SIN3A ZNF2 ZNF766 ZNF143 DNAJB12 ECD PSAP RPL17P50 DDIT4 ENSG00000269926
GH10G071867 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.2 -17.0 -16981 1.4 HDGF ATF1 ZNF766 FOS CAVIN1 ZNF592 MEF2D MAFF SMARCA4 PBX2 PSAP DNAJB12 DDIT4 VSIR ENSG00000230526
GH10G072314 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -468.9 -468850 11.7 MLX CREB3L1 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 TBX21 DNAJB12 DDIT4 ECD PSAP ENSG00000227540 ANAPC16 NUDT13 MICU1 ENSG00000269926
GH10G071880 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.6 -30.1 -30076 1.2 CTCF GATAD2A NRF1 MAFG REST ZIC2 MEF2D ZNF589 ZNF316 IKZF1 PSAP DNAJB12 VSIR ENSG00000230526 GC10M071945
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSAP on UCSC Golden Path with GeneCards custom track

Promoters for PSAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029615 775 2001 HDGF PKNOX1 FOXA2 MLX ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2

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 (PubMed:10406958, PubMed:12510003, PubMed:7730378, PubMed:21835174). Monomeric prosaposin interacts (via C-terminus) with sortilin/SORT1, the interaction is required for targeting to lysosomes (PubMed:14657016, PubMed:22431521).
    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

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 isoforms=2, 380, isoforms=2, 3101, isoforms=2, 3215, Asn332, Thr401, and isoforms=2, 3426
  • Modification sites at PhosphoSitePlus

Other Protein References for PSAP Gene

Antibody Products

  • Abcam antibodies for PSAP

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

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

No data available for UniProtKB/Swiss-Prot for PSAP Gene

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:0004565 beta-galactosidase activity IDA 1454804
GO:0005515 protein binding IPI 16713569
GO:0005543 phospholipid binding IDA 14674747
GO:0008047 enzyme activator activity TAS 2717620
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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSAP gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
mitochondrion 3
golgi apparatus 3
nucleus 2
endosome 2
peroxisome 1
endoplasmic reticulum 1
cytosol 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:0005739 mitochondrion IEA --
GO:0005764 lysosome IDA,IEA 22431521
GO:0005765 lysosomal membrane TAS --
genes like me logo Genes that share ontologies with PSAP: view

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:0002576 platelet degranulation TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006869 lipid transport TAS 1454804
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

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

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

(68) 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PSAP Gene



NURSA nuclear receptor signaling pathways regulating expression of PSAP Gene:

PSAP

SOURCE GeneReport for Unigene cluster for PSAP Gene:

Hs.523004

Evidence on tissue expression from TISSUES for PSAP Gene

  • Skin(5)
  • Nervous system(5)
  • Eye(4.9)
  • Kidney(4.9)
  • Lung(4.9)
  • Pancreas(4.8)
  • Liver(4.7)
  • Intestine(4.6)
  • Blood(4.1)
  • Stomach(4.1)
  • Urine(4)
  • Bone(3.4)
  • Heart(3.3)
  • Muscle(3.2)
  • Spleen(3.2)
  • Adrenal gland(2.9)
  • Gall bladder(2.6)
  • Lymph node(2.6)
  • Thyroid gland(2.5)
  • Bone marrow(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PSAP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
  • spleen
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PSAP: view

Primer Products

No data available for Protein tissue co-expression partners and 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 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia PSAP 34 35
  • 86.88 (n)
cow
(Bos Taurus)
Mammalia PSAP 34 35
  • 85.31 (n)
rat
(Rattus norvegicus)
Mammalia Psap 34
  • 77.1 (n)
mouse
(Mus musculus)
Mammalia Psap 34 16 35
  • 76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 54 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PSAP 34 35
  • 65.47 (n)
-- 35
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia psap 34
  • 55.19 (n)
Str.7621 34
African clawed frog
(Xenopus laevis)
Amphibia MGC64541 34
zebrafish
(Danio rerio)
Actinopterygii psap 34 35
  • 59.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sap-r 34 35
  • 46.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001082 34
  • 43.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 18 (a)
OneToMany
Species where no ortholog for PSAP was found in the sources mined by GeneCards:
  • 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
rs1130793 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
rs121918103 Pathogenic, Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] 71,828,084(-) CTCCA(C/T)CTTTG reference, missense
rs121918107 Pathogenic, Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] 71,828,091(-) GGACC(A/C)ACTCC reference, missense
rs121918110 Pathogenic, Gaucher disease, atypical, due to saposin C deficiency (AGD) [MIM:610539] 71,819,860(-) GAAGC(C/T)GCCGA reference, missense
rs770171865 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] 71,828,089(+) GTGGA(G/T)TTGGT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1134025 CNV deletion 24896259
nsv831910 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
PSAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSAP

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

Disorders for PSAP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gaucher disease, atypical
  • gaucher disease, atypical, due to saposin c deficiency
combined sap deficiency
  • combined saposin 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
metachromatic leukodystrophy, late infantile form
  • arylsulfatase a deficiency, late infantile form
- 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. {ECO:0000269 PubMed:10196694, ECO:0000269 PubMed:10682309, ECO:0000269 PubMed:2019586, ECO:0000269 PubMed:2302219, ECO:0000269 PubMed:2320574}. 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. Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B. (PMID: 12510003) Ahn V.E. … Prive G.G. (Protein Expr. Purif. 2003) 3 4 22 64
  2. Crystal structure of saposin B reveals a dimeric shell for lipid binding. (PMID: 12518053) Ahn V.E. … Prive G.G. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 22 64
  3. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. (PMID: 11309366) Hulkova H. … Elleder M. (Hum. Mol. Genet. 2001) 3 4 22 64
  4. Structural and membrane-binding properties of saposin D. (PMID: 10406958) Tatti M. … Vaccaro A.M. (Eur. J. Biochem. 1999) 3 4 22 64
  5. Preparation of the cerebroside sulfate activator (CSAct or saposin B) from human urine. (PMID: 10562467) Fluharty A.L. … Faull K.F. (Mol. Genet. Metab. 1999) 3 4 22 64

Products for PSAP Gene

Sources for PSAP Gene

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