Psap prosaposin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Psapprovided by MGI
Official Full Name: prosaposinprovided by MGI
Primary source: MGI:MGI:97783
See related: Ensembl:ENSMUSG00000004207 AllianceGenome:MGI:97783
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
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: human all
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Genomic context

Location:: 10 B4; 10 30.02 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single-cell RNA-sequencing analysis reveals enhanced non-canonical neurotrophic factor signaling in the subacute phase of traumatic brain injury.
Title: Single-cell RNA-sequencing analysis reveals enhanced non-canonical neurotrophic factor signaling in the subacute phase of traumatic brain injury.
Prosaposin maintains lipid homeostasis in dopamine neurons and counteracts experimental parkinsonism in rodents.
Title: Prosaposin maintains lipid homeostasis in dopamine neurons and counteracts experimental parkinsonism in rodents.
Efferocytes release extracellular vesicles to resolve inflammation and tissue injury via prosaposin-GPR37 signaling.
Title: Efferocytes release extracellular vesicles to resolve inflammation and tissue injury via prosaposin-GPR37 signaling.
Expression patterns of prosaposin and its receptors, G protein-coupled receptor (GPR) 37 and GPR37L1, in the mouse olfactory organ.
Title: Expression patterns of prosaposin and its receptors, G protein-coupled receptor (GPR) 37 and GPR37L1, in the mouse olfactory organ.
Decreased Prosaposin and Progranulin in the Cingulate Cortex Are Associated with Schizophrenia Pathophysiology.
Title: Decreased Prosaposin and Progranulin in the Cingulate Cortex Are Associated with Schizophrenia Pathophysiology.
Accumulating evidence suggests that PGRN is essential for proper lysosomal function, but the precise mechanisms involved are not known. Here, we show that PGRN facilitates neuronal uptake and lysosomal delivery of prosaposin (PSAP), the precursor of saposin peptides that are essential for lysosomal glycosphingolipid degradation.
Title: Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations.
Both PSAP reduction and overexpression lead to significantly elevated extracellular progranulin (PGRN) levels. Intriguingly, PSAP knockdown increases PGRN monomers, whereas PSAP overexpression increases PGRN oligomers, partly through a protein-protein interaction.
Title: Prosaposin is a regulator of progranulin levels and oligomerization.
Data show that matrix (ECM) stiffness leads to mechano-signal transduction in mesenchymal stem cells (MSC), which promotes mammary tumor growth in part through secretion of the signaling protein prosaposin.
Title: Mechano-Signal Transduction in Mesenchymal Stem Cells Induces Prosaposin Secretion to Drive the Proliferation of Breast Cancer Cells.
Data suggested that the abundance of Psap in sperm sample may be a sensitive endpoint to predict PCB exposure.
Title: Decrease in prosaposin in spermatozoon is associated with polychlorinated biphenyl exposure.
Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.
Title: Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2)
Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Psap (e-PCR), detects polymorphism
- UniSTS:507181

AI037048 (e-PCR)
- UniSTS:180044

Psap (e-PCR), detects polymorphism
- UniSTS:508016

U27340 (e-PCR)
- UniSTS:208524

Psap (e-PCR), detects polymorphism
- UniSTS:144271

RH136606 (e-PCR)
- UniSTS:210586

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
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
involved_in cellular response to reactive oxygen species	IDA Inferred from Direct Assay 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
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
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
involved_in lysosomal transport	ISS Inferred from Sequence or Structural Similarity 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
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
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
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 more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
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
located_in late endosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: prosaposin

Names: snoRNA MBII-198; sulfated glycoprotein 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001146120.2 → NP_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)

AC079082, AEKQ02027206

Consensus CDS

CCDS48567.1

UniProtKB/TrEMBL

Q3TID4, Q3TIT5, Q3TKB2, Q3TWE9, Q3TWF9, Q3TXP9, Q3U5W2, Q3U825, Q3U8C4, Q8BFQ1

Related

ENSMUSP00000101105.2, ENSMUST00000105465.8

Conserved Domains (5) summary

smart00162
Location:521 → 554

SAPA; Saposin/surfactant protein-B A-type DOMAIN

smart00741
Location:438 → 512

SapB; Saposin (B) Domains

pfam03489
Location:106 → 138

SapB_2; Saposin-like type B, region 2

pfam05184
Location:63 → 97

SapB_1; Saposin-like type B, region 1

cl02494
Location:21 → 54

SapA; Saposin A-type domain
NM_001146121.2 → NP_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)

AC079082, AEKQ02027206

UniProtKB/TrEMBL

B2RUD7, J3QPG5, Q3TID4, Q3TIT5, Q3TKB2, Q3TWE9, Q3TWF9, Q3TXP9, Q3U5W2, Q3U825, Q3U8C4

Conserved Domains (5) summary

smart00162
Location:523 → 556

SAPA; Saposin/surfactant protein-B A-type DOMAIN

smart00741
Location:440 → 514

SapB; Saposin (B) Domains

pfam03489
Location:106 → 138

SapB_2; Saposin-like type B, region 2

pfam05184
Location:63 → 97

SapB_1; Saposin-like type B, region 1

cl02494
Location:21 → 54

SapA; Saposin A-type domain
NM_001146122.2 → NP_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)

AC079082, AEKQ02027206

UniProtKB/TrEMBL

Q3TID4, Q3TIT5, Q3TKB2, Q3TWE9, Q3TWF9, Q3TXJ0, Q3TXP9, Q3U5W2, Q3U825, Q3U8C4

Conserved Domains (5) summary

smart00162
Location:520 → 553

SAPA; Saposin/surfactant protein-B A-type DOMAIN

smart00741
Location:437 → 511

SapB; Saposin (B) Domains

pfam03489
Location:106 → 138

SapB_2; Saposin-like type B, region 2

pfam05184
Location:63 → 97

SapB_1; Saposin-like type B, region 1

cl02494
Location:21 → 54

SapA; Saposin A-type domain
NM_001146123.2 → NP_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)

AC079082, AEKQ02027206

UniProtKB/TrEMBL

Q3TID4, Q3TIT5, Q3TKB2, Q3TWE9, Q3TWF9, Q3TXP9, Q3U5W2, Q3U825, Q3U8C4, Q3UAS4

Conserved Domains (5) summary

smart00162
Location:512 → 545

SAPA; Saposin/surfactant protein-B A-type DOMAIN

smart00741
Location:429 → 503

SapB; Saposin (B) Domains

pfam03489
Location:106 → 138

SapB_2; Saposin-like type B, region 2

pfam05184
Location:63 → 97

SapB_1; Saposin-like type B, region 1

cl02494
Location:21 → 54

SapA; Saposin A-type domain
NM_001146124.2 → NP_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)

AC079082, AEKQ02027206

Consensus CDS

CCDS48568.1

UniProtKB/TrEMBL

E9PZ00, Q3UE29

Related

ENSMUSP00000126407.2, ENSMUST00000165878.2

Conserved Domains (3) summary

smart00741
Location:435 → 509

SapB; Saposin (B) Domains

pfam02199
Location:519 → 551

SapA; Saposin A-type domain

cl02494
Location:18 → 51

SapA; Saposin A-type domain
NM_001428765.1 → NP_001415694.1 prosaposin isoform G

Status: REVIEWED

Source sequence(s)

AC079082, AEKQ02027206
NM_011179.4 → NP_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)

AC079082, AEKQ02027206

Consensus CDS

CCDS35911.1

UniProtKB/Swiss-Prot

Q60861, Q61207, Q64006, Q64219

UniProtKB/TrEMBL

J3QPG5, Q3UFE8

Related

ENSMUSP00000137476.2, ENSMUST00000179238.8

Conserved Domains (5) summary

smart00162
Location:524 → 557

SAPA; Saposin/surfactant protein-B A-type DOMAIN

smart00741
Location:441 → 515

SapB; Saposin (B) Domains

pfam03489
Location:106 → 138

SapB_2; Saposin-like type B, region 2

pfam05184
Location:63 → 97

SapB_1; Saposin-like type B, region 1

cl02494
Location:21 → 54

SapA; Saposin A-type domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

60113436..60138379

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313848.2 → XP_017169337.1 prosaposin isoform X1

UniProtKB/TrEMBL

J3QPG5

Conserved Domains (3) summary

smart00162
Location:523 → 556

SAPA; Saposin/surfactant protein-B A-type DOMAIN

smart00741
Location:440 → 514

SapB; Saposin (B) Domains

cl02494
Location:21 → 54

SapA; Saposin A-type domain
XM_017313849.2 → XP_017169338.1 prosaposin isoform X2

UniProtKB/TrEMBL

J3QPG5, Q3TID4, Q3TIT5, Q3TKB2, Q3TWE9, Q3TWF9, Q3TXP9, Q3U5W2, Q3U825, Q3U8C4

Conserved Domains (3) summary

smart00162
Location:522 → 555

SAPA; Saposin/surfactant protein-B A-type DOMAIN

smart00741
Location:439 → 513

SapB; Saposin (B) Domains

cl02494
Location:21 → 54

SapA; Saposin A-type domain
XM_036155691.1 → XP_036011584.1 prosaposin isoform X3

UniProtKB/TrEMBL

Q3UE29

Conserved Domains (3) summary

smart00741
Location:438 → 512

SapB; Saposin (B) Domains

pfam02199
Location:522 → 554

SapA; Saposin A-type domain

cl02494
Location:18 → 51

SapA; Saposin A-type domain
XM_036155692.1 → XP_036011585.1 prosaposin isoform X4

Conserved Domains (3) summary

smart00741
Location:434 → 508

SapB; Saposin (B) Domains

pfam02199
Location:518 → 550

SapA; Saposin A-type domain

cl02494
Location:18 → 51

SapA; Saposin A-type domain