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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
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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

Gene LinkOut

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