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    Spns1 SPNS lysolipid transporter 1, lysophospholipid [ Mus musculus (house mouse) ]

    Gene ID: 73658, updated on 10-Dec-2024

    Summary

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    Official Symbol
    Spns1provided by MGI
    Official Full Name
    SPNS lysolipid transporter 1, lysophospholipidprovided by MGI
    Primary source
    MGI:MGI:1920908
    See related
    Ensembl:ENSMUSG00000030741 AllianceGenome:MGI:1920908
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Spin1; Spinl; 2210013K02Rik
    Summary
    Predicted to enable transmembrane transporter activity. Involved in lysophospholipid transport. Acts upstream of or within phospholipid efflux and regulation of lysosomal lumen pH. Is active in lysosome. Is expressed in brain and retina. Orthologous to human SPNS1 (SPNS lysolipid transporter 1, lysophospholipid). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 51.4), lung adult (RPKM 38.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Spns1 in Genome Data Viewer
    Location:
    7 F3; 7 69.01 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (125969232..125977179, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (126370060..126377934, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133500738-133500847 Neighboring gene predicted gene, 53206 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133513013-133513200 Neighboring gene linker for activation of T cells Neighboring gene microRNA 7058 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133521004-133521187 Neighboring gene nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein Neighboring gene STARR-seq mESC enhancer starr_20144 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133540343-133540526 Neighboring gene STARR-positive B cell enhancer ABC_E8208 Neighboring gene CD19 antigen Neighboring gene STARR-positive B cell enhancer ABC_E9706

    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. L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease. Yanagisawa H, et al. Sci Rep, 2017 Nov 21. PMID 29162837, Free PMC Article
    2. Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage. He M, et al. Proc Natl Acad Sci U S A, 2022 Oct 4. PMID 36161949, Free PMC Article
    3. Spns1 is an iron transporter essential for megalin-dependent endocytosis. Beenken A, et al. Am J Physiol Renal Physiol, 2024 Nov 1. PMID 39265081, Free PMC Article
    4. Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster. Nakano Y, et al. Mol Cell Biol, 2001 Jun. PMID 11340170, Free PMC Article
    5. Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models. Ha HT, et al. JCI Insight, 2024 Mar 7. PMID 38451736, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.
      Title: Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.
    2. Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage.
      Title: Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage.
    3. SPNS1-dependent L-leucine export across the lysosomal membrane is a key step for triggering autophagy, and that this mechanism is impaired in Niemann-Pick type C disease-1.
      Title: L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease.
    4. Spinster protein interferes with programmed cell death in Drosophila melanogaster and has orthologs in nematode, mouse, and human.
      Title: Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    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 MGI

    Function Evidence Code Pubs
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in lysophospholipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysophospholipid transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phospholipid efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within phospholipid efflux IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of lysosomal lumen pH IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein spinster homolog 1
    Names
    MSpin1
    spinster homolog 1
    spinster-like protein

    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.

    mRNA and Protein(s)

    1. NM_023712.3 → NP_076201.2  protein spinster homolog 1

      See identical proteins and their annotated locations for NP_076201.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents a protein-coding transcript for this gene.
      Source sequence(s)
      AF212372, AK166931, BY731880, CR519967
      Consensus CDS
      CCDS21826.1
      UniProtKB/Swiss-Prot
      Q3TKM0, Q8R0G7, Q99LN7, Q9EQK0
      UniProtKB/TrEMBL
      D3YTR6
      Related
      ENSMUSP00000032994.9, ENSMUST00000032994.15
      Conserved Domains (1) summary
      cd06174
      Location:62 → 450
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    RNA

    1. NR_045537.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF212372, AK008721, BY731880, CR519967
      Related
      ENSMUST00000138141.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      125969232..125977179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153474.1 → XP_036009367.1  protein spinster homolog 1 isoform X1

      Conserved Domains (1) summary
      cd17328
      Location:1 → 293
      MFS_spinster_like; Protein spinster and spinster homologs of the Major Facilitator Superfamily of transporters
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R0G7.1 GenPept UniProtKB/Swiss-Prot:Q8R0G7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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