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PSAP prosaposin [ Homo sapiens (human) ]

Gene ID: 5660, updated on 7-Jun-2020

Summary

Official Symbol
PSAPprovided by HGNC
Official Full Name
prosaposinprovided by HGNC
Primary source
HGNC:HGNC:9498
See related
Ensembl:ENSG00000197746 MIM:176801
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
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

Genomic context

See PSAP in Genome Data Viewer
Location:
10q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (71816298..71851251, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73576055..73611082, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cadherin related 23 Neighboring gene Sharpr-MPRA regulatory region 2121 Neighboring gene microRNA 7152 Neighboring gene NFE2L2 motif-containing MPRA enhancers 43 and 138 Neighboring gene RNA, U7 small nuclear 38 pseudogene Neighboring gene carbohydrate sulfotransferase 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Combined saposin deficiency
MedGen: C2673635 OMIM: 611721 GeneReviews: Not available
Compare labs
Gaucher disease, atypical, due to saposin C deficiency
MedGen: C1864651 OMIM: 610539 GeneReviews: Not available
Compare labs
Krabbe disease, atypical, due to saposin A deficiency
MedGen: C2673266 OMIM: 611722 GeneReviews: Not available
Compare labs
Sphingolipid activator protein 1 deficiency
MedGen: C0268262 OMIM: 249900 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00245, MGC110993

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IEA
Inferred from Electronic Annotation
more info
 
beta-galactosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
ganglioside GM1 binding IDA
Inferred from Direct Assay
more info
PubMed 
ganglioside GM2 binding IDA
Inferred from Direct Assay
more info
PubMed 
ganglioside GM3 binding IDA
Inferred from Direct Assay
more info
PubMed 
ganglioside GP1c binding IDA
Inferred from Direct Assay
more info
PubMed 
ganglioside GT1b binding IDA
Inferred from Direct Assay
more info
PubMed 
lipid antigen binding IEA
Inferred from Electronic Annotation
more info
 
lipid binding TAS
Traceable Author Statement
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
NK T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antigen processing and presentation IEA
Inferred from Electronic Annotation
more info
 
cellular response to organic substance IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
corneocyte development IEA
Inferred from Electronic Annotation
more info
 
cornified envelope assembly IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation involved in prostate gland development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
galactosylceramide catabolic process IEA
Inferred from Electronic Annotation
more info
 
ganglioside GM1 transport to membrane IDA
Inferred from Direct Assay
more info
PubMed 
gene expression IEA
Inferred from Electronic Annotation
more info
 
glucosylceramide metabolic process IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
inclusion body assembly IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
lipid transport TAS
Traceable Author Statement
more info
PubMed 
lysosomal protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
lysosomal transport IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
micturition IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of hydrogen peroxide-induced cell death IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
prostate gland growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of autophagy TAS
Traceable Author Statement
more info
PubMed 
regulation of lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
walking behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
aggresome IEA
Inferred from Electronic Annotation
more info
 
azurophil granule membrane TAS
Traceable Author Statement
more info
 
collagen-containing extracellular matrix HDA PubMed 
extracellular exosome HDA PubMed 
extracellular region HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosomal membrane TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001042465.3NP_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/Swiss-Prot
    P07602
    Conserved Domains (4) summary
    smart00162
    Location:2154
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    smart00741
    Location:318391
    SapB; Saposin (B) Domains
    pfam03489
    Location:360391
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:6397
    SapB_1; Saposin-like type B, region 1
  2. NM_001042466.3NP_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/Swiss-Prot
    P07602
    Conserved Domains (4) summary
    smart00162
    Location:2154
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    smart00741
    Location:317390
    SapB; Saposin (B) Domains
    pfam03489
    Location:359390
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:6397
    SapB_1; Saposin-like type B, region 1
  3. NM_002778.4NP_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
    P07602
    UniProtKB/TrEMBL
    A0A024QZQ2
    Related
    ENSP00000378394.3, ENST00000394936.8
    Conserved Domains (4) summary
    smart00162
    Location:2154
    SAPA; Saposin/surfactant protein-B A-type DOMAIN
    smart00741
    Location:315388
    SapB; Saposin (B) Domains
    pfam03489
    Location:357388
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:6397
    SapB_1; Saposin-like type B, region 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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