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    Stard7 StAR related lipid transfer domain containing 7 [ Mus musculus (house mouse) ]

    Gene ID: 99138, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Stard7provided by MGI
    Official Full Name
    StAR related lipid transfer domain containing 7provided by MGI
    Primary source
    MGI:MGI:2139090
    See related
    Ensembl:ENSMUSG00000027367 AllianceGenome:MGI:2139090
    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
    Summary
    Predicted to enable lipid binding activity. Acts upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Located in cytoplasm and extracellular region. Is expressed in central nervous system; liver; and retina. Human ortholog(s) of this gene implicated in familial adult myoclonic epilepsy 2. Orthologous to human STARD7 (StAR related lipid transfer domain containing 7). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 28.6), heart adult (RPKM 28.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 F1; 2 61.88 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (127112123..127140855)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (127270202..127298935)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E642 Neighboring gene cytosolic iron-sulfur protein assembly 1 Neighboring gene transmembrane protein 127 Neighboring gene STARR-positive B cell enhancer mm9_chr2:127095727-127096028 Neighboring gene STARR-seq mESC enhancer starr_05622 Neighboring gene STARR-positive B cell enhancer ABC_E4496 Neighboring gene STARR-positive B cell enhancer ABC_E10138 Neighboring gene predicted gene, 54150 Neighboring gene predicted gene, 46762 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127154244-127154469 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127160153-127160262 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127160377-127160560 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127160818-127161005

    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. The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis. Yang L, et al. Sci Rep, 2017 Apr 12. PMID 28401922, Free PMC Article
    2. StarD7 Protein Deficiency Adversely Affects the Phosphatidylcholine Composition, Respiratory Activity, and Cristae Structure of Mitochondria. Horibata Y, et al. J Biol Chem, 2016 Nov 25. PMID 27694445, Free PMC Article
    3. Expression and localization of StarD7 in trophoblast cells. Angeletti S, et al. Placenta, 2008 May. PMID 18378304
    4. The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts. Horibata Y, et al. Sci Rep, 2020 Feb 18. PMID 32071354, Free PMC Article
    5. Haploinsufficiency for Stard7 is associated with enhanced allergic responses in lung and skin. Yang L, et al. J Immunol, 2015 Jun 15. PMID 25980009, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. StarD7 deficiency switches on glycolysis and promotes mitophagy flux in C2C12 myoblasts.
      Title: StarD7 deficiency switches on glycolysis and promotes mitophagy flux in C2C12 myoblasts.
    2. The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts.
      Title: The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts.
    3. Stard7 deficiency was associated with altered mitochondrial size and membrane organization both in vitro and in vivo.
      Title: The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis.
    4. These findings indicate that StarD7 plays important roles in maintaining the proper composition of mitochondrial phospholipids as well as mitochondrial function and morphogenesis.
      Title: StarD7 Protein Deficiency Adversely Affects the Phosphatidylcholine Composition, Respiratory Activity, and Cristae Structure of Mitochondria.
    5. these data suggest that Stard7 is an important component of a novel protective pathway in tissues exposed to the extracellular environment.
      Title: Haploinsufficiency for Stard7 is associated with enhanced allergic responses in lung and skin.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC27663

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within T-helper 2 cell cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mucociliary clearance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within myeloid dendritic cell activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within type 2 immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    stAR-related lipid transfer protein 7, mitochondrial
    Names
    START domain containing 7
    START domain-containing protein 7

    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_001362684.2 → NP_001349613.1  stAR-related lipid transfer protein 7, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL845368
      Conserved Domains (1) summary
      cl14643
      Location:139 → 186
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

    2. NM_139308.3 → NP_647469.2  stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_647469.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL845368
      Consensus CDS
      CCDS16698.2
      UniProtKB/Swiss-Prot
      A2ARG0, Q8R1R3
      UniProtKB/TrEMBL
      F7BBA2, Q8BUP0
      Related
      ENSMUSP00000106004.3, ENSMUST00000110375.9
      Conserved Domains (1) summary
      cd08911
      Location:139 → 328
      START_STARD7-like; Lipid-binding START domain of mammalian STARD7 and related proteins

    RNA

    1. NR_156114.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL845368

    2. NR_188880.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL845368

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      127112123..127140855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_003953755.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R1R3.2 GenPept UniProtKB/Swiss-Prot:Q8R1R3

    Gene LinkOut

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

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