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    PSAP prosaposin [ Homo sapiens (human) ]

    Gene ID: 5660, updated on 8-May-2017
    Official Symbol
    PSAPprovided by HGNC
    Official Full Name
    prosaposinprovided by HGNC
    Primary source
    HGNC:HGNC:9498
    See related
    Ensembl:ENSG00000197746 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 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]
    Orthologs
    Location:
    10q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (71816283..71851375, 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 V-set immunoregulatory receptor Neighboring gene microRNA 7152 Neighboring gene RNA, U7 small nuclear 38 pseudogene Neighboring gene carbohydrate sulfotransferase 3 Neighboring gene SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • 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
    G-protein coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    beta-galactosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ganglioside GM1 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ganglioside GM2 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ganglioside GM3 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ganglioside GP1c binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ganglioside GT1b binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell differentiation involved in prostate gland development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ganglioside GM1 transport to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    lipid transport TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of hydrogen peroxide-induced cell death IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    prostate gland growth IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    prosaposin
    Names
    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 RefSeqGene

      Range
      4951..40043
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042465.2NP_001035930.1  prosaposin isoform b preproprotein

      See identical proteins and their annotated locations for NP_001035930.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).
      Source sequence(s)
      AA487963, BC004275, D00422, DC420206
      UniProtKB/Swiss-Prot
      P07602
      Conserved Domains (4) summary
      smart00162
      Location:2154
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:318391
      SapB; Saposin (B) Domains
      pfam03489
      Location:360391
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1
    2. NM_001042466.2NP_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)
      AA487963, BC004275, D00422, DC420206
      UniProtKB/Swiss-Prot
      P07602
      Conserved Domains (4) summary
      smart00162
      Location:2154
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:317390
      SapB; Saposin (B) Domains
      pfam03489
      Location:359390
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1
    3. NM_002778.3NP_002769.1  prosaposin isoform a preproprotein

      See identical proteins and their annotated locations for 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)
      AA487963, BC004275, DC420206
      Consensus CDS
      CCDS7311.1
      UniProtKB/Swiss-Prot
      P07602
      UniProtKB/TrEMBL
      A0A024QZQ2
      Related
      ENSP00000378394.3, OTTHUMP00000019776, ENST00000394936.7, OTTHUMT00000048553
      Conserved Domains (4) summary
      smart00162
      Location:2154
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:315388
      SapB; Saposin (B) Domains
      pfam03489
      Location:357388
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      71816283..71851375 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      73858018..73893059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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