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    Psap prosaposin [ Mus musculus (house mouse) ]

    Gene ID: 19156, updated on 8-Jul-2021

    Summary

    Official Symbol
    Psapprovided by MGI
    Official Full Name
    prosaposinprovided by MGI
    Primary source
    MGI:MGI:97783
    See related
    Ensembl:ENSMUSG00000004207
    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; 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]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 636.6), mammary gland adult (RPKM 598.6) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Psap in Genome Data Viewer
    Location:
    10 B4; 10 30.02 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (60113436..60138379)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (60277628..60302600)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (59740376..59765348)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene carbohydrate 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 predicted gene, 51803

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (9)  1 citation
    • Chemically induced (ENU) (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ganglioside GM1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ganglioside GM2 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ganglioside GM3 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ganglioside GP1c binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ganglioside GT1b binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipid antigen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within NK T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to organic substance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ceramide metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cerebellar Purkinje cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cochlea development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within corneocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cornified envelope assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cell differentiation involved in prostate gland development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within epithelial cell differentiation involved in prostate gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within galactosylceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ganglioside GM1 transport to membrane ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within_negative_effect gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within_negative_effect gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glucosylceramide metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glycolipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inclusion body assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosomal transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within membrane lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within micturition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of hydrogen peroxide-induced cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within nervous system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular process controlling balance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of beta-galactosidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in prostate gland growth IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within prostate gland growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within regulation of lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within renal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sphingolipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    prosaposin
    Names
    snoRNA MBII-198
    sulfated glycoprotein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      ENSMUSP00000101105.2, ENSMUST00000105465.8
      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
      ENSMUSP00000126407.2, ENSMUST00000165878.2
      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
      ENSMUSP00000137476.2, ENSMUST00000179238.8
      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 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      60113436..60138379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313848.2XP_017169337.1  prosaposin isoform X1

      Conserved Domains (3) summary
      smart00162
      Location:523556
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:440514
      SapB; Saposin (B) Domains
      cl02494
      Location:2154
      SapA; Saposin A-type domain
    2. XM_017313849.2XP_017169338.1  prosaposin isoform X2

      Conserved Domains (3) summary
      smart00162
      Location:522555
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:439513
      SapB; Saposin (B) Domains
      cl02494
      Location:2154
      SapA; Saposin A-type domain
    3. XM_036155691.1XP_036011584.1  prosaposin isoform X3

      Conserved Domains (3) summary
      smart00741
      Location:438512
      SapB; Saposin (B) Domains
      pfam02199
      Location:522554
      SapA; Saposin A-type domain
      cl02494
      Location:1851
      SapA; Saposin A-type domain
    4. XM_036155692.1XP_036011585.1  prosaposin isoform X4

      Conserved Domains (3) summary
      smart00741
      Location:434508
      SapB; Saposin (B) Domains
      pfam02199
      Location:518550
      SapA; Saposin A-type domain
      cl02494
      Location:1851
      SapA; Saposin A-type domain
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