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

Gene ID: 73658, updated on 11-Apr-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. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within lipid transport. Predicted to be located in mitochondrial inner membrane. Predicted to be integral component of membrane. Is expressed in brain and retina. Orthologous to human SPNS1 (sphingolipid transporter 1 (putative)). [provided by Alliance of Genome Resources, Apr 2022]
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

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

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. 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
  4. Proximity-dependent biotin identification (BioID) reveals a dynamic LSD1-CoREST interactome during embryonic stem cell differentiation. Barnes CE, et al. Mol Omics, 2022 Jan 17. PMID 34709266, Free PMC Article
  5. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage.
    Title: Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage.
  2. 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.
  3. 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)
  • Gene trapped (1) 
  • Targeted (2) 
  • Endonuclease-mediated (3) 

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 IEA
Inferred from Electronic Annotation
more info
  
enables transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within lipid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in lysophospholipid transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
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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