Display Settings:

Format

Send to:

Choose Destination

PSAP prosaposin [ Homo sapiens (human) ]

Gene ID: 5660, updated on 11-Sep-2014
Official Symbol
PSAPprovided by HGNC
Official Full Name
prosaposinprovided by HGNC
Primary source
HGNC:HGNC:9498
See related
Ensembl:ENSG00000197746; HPRD:01460; MIM:176801; Vega:OTTHUMG00000018429
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLBA; SAP1
Summary
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]
See PSAP in Epigenomics, MapViewer
Location:
10q21-q22
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (71816298..71851325, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73576055..73611082, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cadherin-related 23 Neighboring gene chromosome 10 open reading frame 54 Neighboring gene microRNA 7152 Neighboring gene RNA, U7 small nuclear 38 pseudogene Neighboring gene carbohydrate (chondroitin 6) sulfotransferase 3 Neighboring gene sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Combined saposin deficiency
MedGen: C2673635 OMIM: 611721 GeneReviews: Not available
Compare labs
Gaucher disease, atypical, due to saposin C deficiency
MedGen: C1864651 OMIM: 610539 GeneReviews: Not available
Compare labs
Krabbe disease atypical due to Saposin A deficiency
MedGen: C2673266 OMIM: 611722 GeneReviews: Not available
Compare labs
Sphingolipid activator protein 1 deficiency
MedGen: C0268262 OMIM: 249900 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
NHGRI GWA Catalog
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ00245, MGC110993

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
lipid binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cellular response to organic substance IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
lipid transport TAS
Traceable Author Statement
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of catalytic activity TAS
Traceable Author Statement
more info
PubMed 
prostate gland growth IEA
Inferred from Electronic Annotation
more info
 
regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosomal membrane TAS
Traceable Author Statement
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
prosaposin
Names
prosaposin
proactivator polypeptide
sphingolipid activator protein-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009301.1 

    Range
    5001..40028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042465.1NP_001035930.1  prosaposin isoform b preproprotein

    See proteins identical to NP_001035930.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).
    Source sequence(s)
    AC073370, BC004275, D00422
    UniProtKB/Swiss-Prot
    P07602
    Conserved Domains (5) summary
    smart00162
    Location:2154
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    pfam02199
    Location:494527
    SapA; Saposin A-type domain
    smart00741
    Location:318391
    SapB; Saposin (B) Domains
    pfam03489
    Location:357389
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:315353
    SapB_1; Saposin-like type B, region 1
  2. NM_001042466.1NP_001035931.1  prosaposin isoform c preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 2, resulting in a shorter protein (isoform c), compared to isoform b.
    Source sequence(s)
    AC073370, BC004275, D00422
    UniProtKB/Swiss-Prot
    P07602
    Conserved Domains (5) summary
    smart00162
    Location:2154
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    pfam02199
    Location:493526
    SapA; Saposin A-type domain
    smart00741
    Location:317390
    SapB; Saposin (B) Domains
    pfam03489
    Location:356388
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:314352
    SapB_1; Saposin-like type B, region 1
  3. NM_002778.2NP_002769.1  prosaposin isoform a preproprotein

    See proteins identical to NP_002769.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an exon in the coding region, compared to variant 2, resulting in a shorter protein (isoform a), compared to isoform b.
    Source sequence(s)
    AC073370, BC004275
    Consensus CDS
    CCDS7311.1
    UniProtKB/TrEMBL
    A0A024QZQ2
    UniProtKB/Swiss-Prot
    P07602
    Related
    ENSP00000378394, OTTHUMP00000019776, ENST00000394936, OTTHUMT00000048553
    Conserved Domains (5) summary
    smart00162
    Location:2154
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    pfam02199
    Location:491524
    SapA; Saposin A-type domain
    smart00741
    Location:315388
    SapB; Saposin (B) Domains
    pfam03489
    Location:354386
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:312350
    SapB_1; Saposin-like type B, region 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    71816298..71851325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    67569822..67604837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    73858033..73893009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)