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... See more...

Aliases for PSAP Gene

Aliases for PSAP Gene

  • Prosaposin 2 3 4 5
  • Sphingolipid Activator Protein-1 2 3
  • Sphingolipid Activator Protein-2 2 3
  • Proactivator Polypeptide 3 4
  • Saposin-A 2 3
  • Saposin-B 2 3
  • Saposin-C 2 3
  • Saposin-D 2 3
  • GLBA 3 4
  • SAP1 3 4
  • Variant Gaucher Disease And Variant Metachromatic Leukodystrophy 2
  • SAP2 3

External Ids for PSAP Gene

Previous HGNC Symbols for PSAP Gene

  • SAP1
  • GLBA
  • SAP2

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, Due To Saposin C Deficiency and Combined Saposin Deficiency. Among its related pathways are Innate Immune System and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding and enzyme activator activity. An important paralog of this gene is PSAPL1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PSAP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSAP Gene

Genomics for PSAP Gene

GeneHancer (GH) Regulatory Elements for PSAP Gene

Promoters and enhancers for PSAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSAP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSAP

Top Transcription factor binding sites by QIAGEN in the PSAP gene promoter:
  • Bach1
  • Bach2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • FOXO4
  • JunB
  • JunD
  • MZF-1

Genomic Locations for PSAP Gene

Genomic Locations for PSAP Gene
chr10:71,816,298-71,851,325
(GRCh38/hg38)
Size:
35,028 bases
Orientation:
Minus strand
chr10:73,576,055-73,611,126
(GRCh37/hg19)
Size:
35,072 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). Interacts with GRN; facilitates lysosomal delivery of progranulin from the extracellular space and the biosynthetic pathway (PubMed:26370502).
    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

  • The lysosomal precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins.
  • N-linked glycans show a high degree of microheterogeneity.
  • The one residue extended Saposin-B-Val is only found in 5% of the chains.
  • Glycosylation at Asn80, Asn101, Asn136, Asn215, Asn332, Thr397, Thr401, and Asn426
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for PSAP Gene

No data available for DME Specific Peptides for PSAP Gene

Domains & Families for PSAP Gene

Gene Families for PSAP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for PSAP Gene

Blocks:
  • Saposin B
  • Saposin signature
  • Saposin B subdomain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSAP Gene

GenScript: Design optimal peptide antigens:
  • Prosaposin (Variant Gaucher disease and variant metachromatic leukodystrophy), isoform CRA_b (Q53Y86_HUMAN)
  • Proactivator polypeptide (SAP_HUMAN)
genes like me logo Genes that share domains with PSAP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PSAP Gene

Function for PSAP Gene

Molecular function for PSAP Gene

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.
GENATLAS Biochemistry:
prosaposin,lysosomal,sphingolipid hydrolase proactivator protein processed to SAPA,SAPB,SAPC,SAPD,ordered 5'->3' on the precursor

Phenotypes From GWAS Catalog for PSAP Gene

Gene Ontology (GO) - Molecular Function for PSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IEA --
GO:0002020 protease binding IPI 24872419
GO:0004565 beta-galactosidase activity IDA 1454804
GO:0005515 protein binding IPI 16713569
GO:0005543 phospholipid binding IDA 14674747
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

Clone 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
endosome 5
lysosome 5
extracellular 4
nucleus 3
golgi apparatus 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
GO:0005615 extracellular space ISS,IEA 22261194
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA,IDA 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:0003335 corneocyte development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006683 galactosylceramide catabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-Amino-1-Carbonyl Pentane Experimental Pharma Target 0
1-Hydroxy-2-Amino-3-Cyclohexylpropane Experimental Pharma Target 0
4-Methylpiperazin-1-Yl Carbonyl Group Experimental Pharma Target 0
Butylamine Experimental Pharma Target 0
Di-Stearoyl-3-Sn-Phosphatidylethanolamine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-Sulfogalactosylceramide
  • Tetracosanoyl sulfatide
  • 3'-Sulphogalactosylceramide
  • 3-O-Sulphogalactosylceramide (D18:1/24:0)
  • Tetracosanoyl sulphatide
151122-71-3
LysoSM(d18:0)
  • Lysosphingomyelin
  • SM(D18:0/0:0)
  • Sphinganine-1-phosphocholine
  • Sphingomyelin(D18:0/0:0)
LysoSM(d18:1)
  • Sphing-4-enine-1-phosphocholine
  • Sphingosyl-phosphocholine
  • Sphingosylphosphocholine
  • C18-Sphingosine phosphocholine
  • D-erythro-Sphingosylphosphorylcholine
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

mRNA/cDNA for PSAP Gene

3 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for PSAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PSAP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • 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
Regions:
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

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 31 30
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PSAP 31 30
  • 86.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PSAP 31 30
  • 85.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psap 30
  • 77.1 (n)
mouse
(Mus musculus)
Mammalia Psap 17 31 30
  • 76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 54 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PSAP 31 30
  • 65.47 (n)
ManyToMany
-- 31