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Psap prosaposin [ Mus musculus (house mouse) ]

Gene ID: 19156, updated on 29-May-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
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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
 
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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