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    PSAP prosaposin [ Homo sapiens (human) ]

    Gene ID: 5660, updated on 9-Jul-2021

    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
    NEW
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    Genomic context

    See PSAP in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (71816298..71851251, complement)
    105.20201022 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 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
    Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
    GeneReviews: Not available
    Sphingolipid activator protein 1 deficiency
    MedGen: C0268262 OMIM: 249900 GeneReviews: Not available
    Compare labs

    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
    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 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 

    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)

    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.

    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 (3) summary
      smart00162
      Location:2154
      SAPA; Saposin/surfactant protein-B A-type DOMAIN
      smart00741
      Location:315388
      SapB; Saposin (B) Domains
      pfam02199
      Location:492524
      SapA; Saposin A-type domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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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