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    Sap-r Saposin-related [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 43662, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Sap-rprovided by FlyBase
    Official Full Name
    Saposin-relatedprovided by FlyBase
    Primary source
    FLYBASE:FBgn0000416
    Locus tag
    Dmel_CG12070
    See related
    AllianceGenome:FB:FBgn0000416
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    anon-EST:ParkEST270; Apa; BcDNA:GH08312; CG12070; DAPA; Dmel\CG12070; Ov9; P110; sap-r; Sap-R; Sapr
    Summary
    Involved in dsRNA transport; lipid homeostasis; and sphingolipid metabolic process. Located in fusome; late endosome; and vacuole. Is expressed in several structures, including adult head; adult heart; central brain primordium; ganglia; and germarium. Used to study lipid storage disease and lysosomal storage disease. Human ortholog(s) of this gene implicated in atypical Gaucher's disease due to saposin c deficiency; combined saposin deficiency; and late onset Parkinson's disease. Orthologous to several human genes including PSAPL1 (prosaposin like 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Sap-r in Genome Data Viewer
    Location:
    100A6-100A7; 3-101 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (30883464..30889062, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (26709186..26714784, complement)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Cytochrome P450 4c3 Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline. Hindle SJ, et al. Neurobiol Dis, 2017 Feb. PMID 27913291, Free PMC Article
    2. Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases. Sellin J, et al. Dis Model Mech, 2017 Jun 1. PMID 28389479, Free PMC Article
    3. TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion. Xia Q, et al. EMBO J, 2016 Jan 18. PMID 26702100, Free PMC Article
    4. Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis. Kuronen M, et al. Neurobiol Dis, 2009 Dec. PMID 19761846
    5. Sphingolipids in neurodegenerative diseases. Pan X, et al. Front Neurosci, 2023. PMID 36875645, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Process Evidence Code Pubs
    involved_in lipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sphingolipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in fusome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Saposin-related
    Names
    110kD protein
    CG12070-PA
    CG12070-PB
    Sap-r-PA
    Sap-r-PB
    Saposin-r
    aggregation promoting activity
    drosophila aggregation promoting activity
    saposin-related

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033777.3 Reference assembly

      Range
      30883464..30889062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_079858.4 → NP_524597.1  Saposin-related, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_524597.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9Y125
      Related
      FBpp0085075
      Conserved Domains (4) summary
      smart00741
      Location:666 → 739
      SapB; Saposin (B) Domains
      pfam03489
      Location:708 → 739
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:72 → 106
      SapB_1; Saposin-like type B, region 1
      cl02494
      Location:27 → 59
      SapA; Saposin A-type domain

    2. NM_170529.2 → NP_733408.2  Saposin-related, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_733408.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q8IMH4
      Related
      FBpp0085076, FBtr0085714
      Conserved Domains (3) summary
      smart00741
      Location:589 → 662
      SapB; Saposin (B) Domains
      pfam03489
      Location:631 → 662
      SapB_2; Saposin-like type B, region 2
      pfam05184
      Location:360 → 394
      SapB_1; Saposin-like type B, region 1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86PA4 Q86PA4
    Q8IMH4 Q8IMH4
    Q9U9P3 Q9U9P3
    Q9Y125 Q9Y125

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