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PSAP prosaposin [ Homo sapiens (human) ]

Gene ID: 5660, updated on 3-Nov-2024

Summary

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Official Symbol
PSAPprovided by HGNC
Official Full Name
prosaposinprovided by HGNC
Primary source
HGNC:HGNC:9498
See related
Ensembl:ENSG00000197746 MIM:176801; AllianceGenome:HGNC:9498
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; SAP2; PSAPD; PARK24
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]
Annotation information
Note: PSAP (Gene ID: 5660) and MTCH1 (Gene ID: 23787) share the PSAP symbol/alias in common. PSAP is a widely used alternative name for mitochondrial carrier 1 (MTCH1), which can be confused with the official symbol for PSAP (prosaposin, GeneID 5660). [01 Jun 2018]
Expression
Ubiquitous expression in spleen (RPKM 523.6), gall bladder (RPKM 491.5) and 25 other tissues See more
Orthologs
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Genomic context

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See PSAP in Genome Data Viewer
Location:
10q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (71816298..71851251, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (72687031..72721975, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73576055..73611008, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cadherin related 23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73550045-73550944 Neighboring gene Sharpr-MPRA regulatory region 2121 Neighboring gene uncharacterized LOC124902446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73570820-73571322 Neighboring gene microRNA 7152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73595633-73596402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73596403-73597172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73597943-73598711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73609267-73609766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73610158-73610688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73610689-73611219 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73619612-73619846 Neighboring gene NFE2L2 motif-containing MPRA enhancers 43 and 138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73635755-73636635 Neighboring gene RNA, U7 small nuclear 38 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2467 Neighboring gene long intergenic non-protein coding RNA 3139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73665425-73665924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3525 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73698038-73698194 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73715248-73715463 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73716485-73716704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73729339-73729882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73729883-73730426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73733189-73733688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73738687-73739188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3527 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73751377-73751550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73757484-73758436 Neighboring gene carbohydrate sulfotransferase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Prosaposin is a biomarker of mesenchymal glioblastoma and regulates mesenchymal transition through the TGF-β1/Smad signaling pathway. Jiang Y, et al. J Pathol, 2019 Sep. PMID 30953361
  2. Structural and membrane-binding properties of saposin D. Tatti M, et al. Eur J Biochem, 1999 Jul. PMID 10406958
  3. Isolation and characterization of the human prosaposin promoter. Sun Y, et al. Gene, 1998 Sep 18. PMID 9751800
  4. Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. Kuchar L, et al. Am J Med Genet A, 2009 Feb 15. PMID 19267410, Free PMC Article
  5. Assignment of the human prosaposin gene (PSAP) to 10q22.1 by fluorescence in situ hybridization. Giraffidae, okapi (Okapiajohnstoni), and giraffe (Giraffa camelopardalis): evidence for ancestral telomeres at the okapi polymorphic rob (4;26) fusion site. Bar-Am I, et al. Cytogenet Cell Genet, 1996. PMID 8641138

See all (183) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Meta-analysis of the association of prosaposin polymorphisms rs4747203 and rs885828 with risk of Parkinson's disease.
    Title: Meta-analysis of the association of prosaposin polymorphisms rs4747203 and rs885828 with risk of Parkinson's disease.
  2. Hyperglycosylation of prosaposin in tumor dendritic cells drives immune escape.
    Title: Hyperglycosylation of prosaposin in tumor dendritic cells drives immune escape.
  3. 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.
  4. Prosaposin, tumor-secreted protein, promotes pancreatic cancer progression by decreasing tumor-infiltrating lymphocytes.
    Title: Prosaposin, tumor-secreted protein, promotes pancreatic cancer progression by decreasing tumor-infiltrating lymphocytes.
  5. Efficient progranulin exit from the ER requires its interaction with prosaposin, a Surf4 cargo.
    Title: Efficient progranulin exit from the ER requires its interaction with prosaposin, a Surf4 cargo.
  6. Loss of Lysosomal Proteins Progranulin and Prosaposin Associated with Increased Neurofibrillary Tangle Development in Alzheimer Disease.
    Title: Loss of Lysosomal Proteins Progranulin and Prosaposin Associated with Increased Neurofibrillary Tangle Development in Alzheimer Disease.
  7. Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson's Disease.
    Title: Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson's Disease.
  8. PSAP intronic variants around saposin D domain and Parkinson's disease.
    Title: PSAP intronic variants around saposin D domain and Parkinson's disease.
  9. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.
    Title: Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.
  10. Characterization of lysosomal proteins Progranulin and Prosaposin and their interactions in Alzheimer's disease and aged brains: increased levels correlate with neuropathology.
    Title: Characterization of lysosomal proteins Progranulin and Prosaposin and their interactions in Alzheimer's disease and aged brains: increased levels correlate with neuropathology.
Submit: New GeneRIF Correction See all GeneRIFs (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined PSAP deficiency
MedGen: C2673635 OMIM: 611721 GeneReviews: Not available
not available
Gaucher disease due to saposin C deficiency
MedGen: C1864651 OMIM: 610539 GeneReviews: Not available
not available
Krabbe disease due to saposin A deficiency
MedGen: C2673266 OMIM: 611722 GeneReviews: Not available
not available
Parkinson disease 24, autosomal dominant, susceptibility to
MedGen: C5561969 OMIM: 619491 GeneReviews: Not available
not available
Sphingolipid activator protein 1 deficiency
MedGen: C0268262 OMIM: 249900 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00245, MGC110993

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme activator activity TAS
Traceable Author Statement
more info
 PubMed 
enables ganglioside GM1 binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ganglioside GM2 binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ganglioside GM3 binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ganglioside GP1c binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ganglioside GT1b binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables scaffold protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in epithelial cell differentiation involved in prostate gland development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ganglioside GM1 transport to membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lysosomal transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lysosomal transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of beta-galactosidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in prostate gland growth IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of autophagy TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
  
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosomal membrane TAS
Traceable Author Statement
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 plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
prosaposin
Names
precursor of saposins
proactivator polypeptide
saposin-A
saposin-B
saposin-C
saposin-D
sphingolipid activator protein-1
sphingolipid activator protein-2

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.

Genomic

  1. NG_009301.1 RefSeqGene

    Range
    5075..40028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042465.3 → NP_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)
    BC004275, D00422, DC420206
    UniProtKB/TrEMBL
    Q59EN5
    Conserved Domains (4) summary
    smart00162
    Location:21 → 54
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    smart00741
    Location:318 → 391
    SapB; Saposin (B) Domains
    pfam03489
    Location:360 → 391
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:63 → 97
    SapB_1; Saposin-like type B, region 1

  2. NM_001042466.3 → NP_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)
    BC004275, D00422, DC420206
    UniProtKB/TrEMBL
    Q53FJ5
    Conserved Domains (4) summary
    smart00162
    Location:21 → 54
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    smart00741
    Location:317 → 390
    SapB; Saposin (B) Domains
    pfam03489
    Location:359 → 390
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:63 → 97
    SapB_1; Saposin-like type B, region 1

  3. NM_002778.4 → NP_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)
    BC004275, DC420206
    Consensus CDS
    CCDS7311.1
    UniProtKB/Swiss-Prot
    P07292, P07602, P15793, P78538, P78541, P78546, P78547, P78558, Q53Y86, Q6IBQ6, Q92739, Q92740, Q92741, Q92742
    UniProtKB/TrEMBL
    Q53FJ5
    Related
    ENSP00000378394.3, ENST00000394936.8
    Conserved Domains (3) summary
    smart00162
    Location:21 → 54
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    smart00741
    Location:315 → 388
    SapB; Saposin (B) Domains
    pfam02199
    Location:492 → 524
    SapA; Saposin A-type domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    71816298..71851251 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    72687031..72721975 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07602.2 GenPept UniProtKB/Swiss-Prot:P07602

Gene LinkOut

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