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    Psap prosaposin [ Mus musculus (house mouse) ]

    Gene ID: 19156, updated on 7-May-2017
    Official Symbol
    Psapprovided by MGI
    Official Full Name
    prosaposinprovided by MGI
    Primary source
    MGI:MGI:97783
    See related
    Ensembl:ENSMUSG00000004207 Vega:OTTMUSG00000016474
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    SGP-1; AI037048
    Summary
    This gene encodes a multifunctional glycoprotein that plays a role in the intracellular metabolism of various sphingolipids or secreted into the plasma, milk or cerebrospinal fluid. The encoded protein undergoes proteolytic processing to generate four different polypeptides known as saposin A, B, C or D, that are required for the hydrolysis of certain sphingolipids by lysosomal hydrolases. Alternately, the encoded protein is secreted into body fluids where it exhibits neurotrophic and myelinotrophic activities. A complete lack of the encoded protein is fatal to mice either at the neonatal stage or within the first month due to severe leukodystrophy and sphingolipid accumulation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature saposins. [provided by RefSeq, Sep 2015]
    Orthologs
    Location:
    10 B4; 10 30.02 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 10 NC_000076.6 (60277628..60302600)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (59740376..59765348)

    Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene carbohydrate (chondroitin 6/keratan) sulfotransferase 3 Neighboring gene headcase homolog pseudogene Neighboring gene cadherin 23 (otocadherin) Neighboring gene V-set immunoregulatory receptor Neighboring gene predicted gene, 17455 Neighboring gene solute carrier family 29 (nucleoside transporters), member 3

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    G-protein coupled receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-galactosidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enzyme activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ganglioside GM1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    ganglioside GM2 binding ISO
    Inferred from Sequence Orthology
    more info
     
    ganglioside GM3 binding ISO
    Inferred from Sequence Orthology
    more info
     
    ganglioside GP1c binding ISO
    Inferred from Sequence Orthology
    more info
     
    ganglioside GT1b binding ISO
    Inferred from Sequence Orthology
    more info
     
    phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    prosaposin
    Names
    snoRNA MBII-198
    sulfated glycoprotein 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.

    mRNA and Protein(s)

    1. NM_001146120.1NP_001139592.1  prosaposin isoform A precursor

      See identical proteins and their annotated locations for NP_001139592.1

      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)
      AK150645, AK151686, BY325400, S36200
      Consensus CDS
      CCDS48567.1
      UniProtKB/Swiss-Prot
      Q61207
      UniProtKB/TrEMBL
      Q8BFQ1
      Related
      ENSMUSP00000101105.1, OTTMUSP00000017725, ENSMUST00000105465.7, OTTMUST00000039727
      Conserved Domains (5) summary
      smart00162
      Location:521554
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:438512
      SapB; Saposin (B) Domains
      pfam03489
      Location:106138
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:2154
      SapA; Saposin A-type domain
    2. NM_001146121.1NP_001139593.1  prosaposin isoform C precursor

      See identical proteins and their annotated locations for NP_001139593.1

      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)
      AK150645, BC141089, BY325400, S36200
      UniProtKB/Swiss-Prot
      Q61207
      UniProtKB/TrEMBL
      B2RUD7
      Conserved Domains (5) summary
      smart00162
      Location:523556
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:440514
      SapB; Saposin (B) Domains
      pfam03489
      Location:106138
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:2154
      SapA; Saposin A-type domain
    3. NM_001146122.1NP_001139594.1  prosaposin isoform D precursor

      See identical proteins and their annotated locations for NP_001139594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the coding region and uses an alternate in-frame splice site, compared to variant 2, resulting in a shorter protein (isoform D), compared to isoform B.
      Source sequence(s)
      AK159221, BY325400, S36200
      UniProtKB/Swiss-Prot
      Q61207
      UniProtKB/TrEMBL
      Q3TXJ0
      Conserved Domains (5) summary
      smart00162
      Location:520553
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:437511
      SapB; Saposin (B) Domains
      pfam03489
      Location:106138
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:2154
      SapA; Saposin A-type domain
    4. NM_001146123.1NP_001139595.1  prosaposin isoform E precursor

      See identical proteins and their annotated locations for NP_001139595.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon in the coding region and uses an alternate in-frame splice site, compared to variant 2, resulting in a shorter protein (isoform E), compared to isoform B.
      Source sequence(s)
      AK151234, BY325400, S36200
      UniProtKB/Swiss-Prot
      Q61207
      UniProtKB/TrEMBL
      Q3UAS4
      Conserved Domains (5) summary
      smart00162
      Location:512545
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:429503
      SapB; Saposin (B) Domains
      pfam03489
      Location:106138
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:2154
      SapA; Saposin A-type domain
    5. NM_001146124.1NP_001139596.1  prosaposin isoform F

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate exon for its 5' UTR and start codon and lacks an exon in the 3' coding region, compared to variant 2, resulting in a protein (isoform F) with a novel N-terminus and shorter C-terminus, compared to isoform B.
      Source sequence(s)
      AK149785, AK159622, S36200
      Consensus CDS
      CCDS48568.1
      UniProtKB/Swiss-Prot
      Q61207
      UniProtKB/TrEMBL
      E9PZ00, Q3TWM9, Q3UE29
      Related
      ENSMUSP00000126407.1, ENSMUST00000165878.1
      Conserved Domains (5) summary
      smart00162
      Location:518551
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:435509
      SapB; Saposin (B) Domains
      pfam03489
      Location:103135
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6094
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:1851
      SapA; Saposin A-type domain
    6. NM_011179.3NP_035309.3  prosaposin isoform B precursor

      See identical proteins and their annotated locations for NP_035309.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (B).
      Source sequence(s)
      AK148545, BY325400, S36200
      Consensus CDS
      CCDS35911.1
      UniProtKB/Swiss-Prot
      Q61207
      UniProtKB/TrEMBL
      Q3UFE8
      Related
      ENSMUSP00000137476.1, ENSMUST00000179238.7
      Conserved Domains (5) summary
      smart00162
      Location:524557
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:441515
      SapB; Saposin (B) Domains
      pfam03489
      Location:106138
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:6397
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:2154
      SapA; Saposin A-type domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000076.6 Reference GRCm38.p4 C57BL/6J

      Range
      60277628..60302600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313848.1XP_017169337.1  prosaposin isoform X1

    2. XM_017313849.1XP_017169338.1  prosaposin isoform X2

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