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    Sfxn3 sideroflexin 3 [ Mus musculus (house mouse) ]

    Gene ID: 94280, updated on 12-May-2024

    Summary

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    Official Symbol
    Sfxn3provided by MGI
    Official Full Name
    sideroflexin 3provided by MGI
    Primary source
    MGI:MGI:2137679
    See related
    Ensembl:ENSMUSG00000025212 AllianceGenome:MGI:2137679
    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 serine transmembrane transporter activity. Predicted to be involved in serine import into mitochondrion. Predicted to act upstream of or within amino acid transport. Located in mitochondrion. Orthologous to human SFXN3 (sideroflexin 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung adult (RPKM 25.0), CNS E18 (RPKM 24.3) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sfxn3 in Genome Data Viewer
    Location:
    19 C3; 19 38.26 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (45036015..45044822)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (45046773..45056383)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9998 Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene twinkle mtDNA helicase Neighboring gene leucine zipper, putative tumor suppressor 2 Neighboring gene PDZ domain containing 7 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:45131818-45132020 Neighboring gene STARR-positive B cell enhancer ABC_E9175 Neighboring gene predicted gene, 35782 Neighboring gene Kazal-type serine peptidase inhibitor domain 1 Neighboring gene STARR-seq mESC enhancer starr_46258 Neighboring gene predicted gene, 35867

    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 mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo. Ledahawsky LM, et al. FEBS J, 2022 Jul. PMID 35092170, Free PMC Article
    2. Roles of CTPL/Sfxn3 and Sfxn family members in pancreatic islet. Yoshikumi Y, et al. J Cell Biochem, 2005 Aug 15. PMID 15864810
    3. Sideroflexin 3 is an α-synuclein-dependent mitochondrial protein that regulates synaptic morphology. Amorim IS, et al. J Cell Sci, 2017 Jan 15. PMID 28049716, Free PMC Article
    4. Forward genetic analysis using OCT screening identifies Sfxn3 mutations leading to progressive outer retinal degeneration in mice. Chen B, et al. Proc Natl Acad Sci U S A, 2020 Jun 9. PMID 32457148, Free PMC Article
    5. A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Fleming MD, et al. Genes Dev, 2001 Mar 15. PMID 11274051, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo.
      Title: The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo.
    2. Forward genetic analysis using OCT screening identifies Sfxn3 mutations leading to progressive outer retinal degeneration in mice.
      Title: Forward genetic analysis using OCT screening identifies Sfxn3 mutations leading to progressive outer retinal degeneration in mice.
    3. sideroflexin 3 (SFXN3) was found to be a mitochondrial protein localized to the inner mitochondrial membrane.
      Title: Sideroflexin 3 is an α-synuclein-dependent mitochondrial protein that regulates synaptic morphology.
    4. Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~80%.
      Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
    5. citrate transporter protein-like protein/Sfxn3 and some other family members might be important in the differentiation of pancreatic beta-cells
      Title: Roles of CTPL/Sfxn3 and Sfxn family members in pancreatic islet.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 L-serine transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables monoatomic ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of one-carbon metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in serine import into mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in serine import into mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sideroflexin-3

    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_001178012.1 → NP_001171483.1  sideroflexin-3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC132957, AI481047, BY723942
      Consensus CDS
      CCDS50448.1
      UniProtKB/Swiss-Prot
      Q91V61
      Related
      ENSMUSP00000107585.5, ENSMUST00000111954.11
      Conserved Domains (1) summary
      pfam03820
      Location:15 → 288
      Mtc; Tricarboxylate carrier

    2. NM_001178013.1 → NP_001171484.1  sideroflexin-3 isoform 3

      See identical proteins and their annotated locations for NP_001171484.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an alternate in-frame segment in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AC132957, AI481047, BY723942
      Consensus CDS
      CCDS50447.1
      UniProtKB/TrEMBL
      Q3U4F0
      Related
      ENSMUSP00000081537.7, ENSMUST00000084493.8
      Conserved Domains (1) summary
      pfam03820
      Location:15 → 281
      Mtc; Tricarboxylate carrier

    3. NM_001362379.1 → NP_001349308.1  sideroflexin-3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC132957, AI481047
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 230
      Mtc; Tricarboxylate carrier

    4. NM_001362380.1 → NP_001349309.1  sideroflexin-3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC132957, AI481047
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 230
      Mtc; Tricarboxylate carrier

    5. NM_001362381.1 → NP_001349310.1  sideroflexin-3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC132957, AI481047
      Consensus CDS
      CCDS29856.1
      UniProtKB/Swiss-Prot
      Q544M7, Q8C1Z2, Q91V61
      Conserved Domains (1) summary
      pfam03820
      Location:15 → 321
      Mtc; Tricarboxylate carrier

    6. NM_001425848.1 → NP_001412777.1  sideroflexin-3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC132957
      UniProtKB/Swiss-Prot
      Q544M7, Q8C1Z2, Q91V61

    7. NM_053197.4 → NP_444427.1  sideroflexin-3 isoform 1

      See identical proteins and their annotated locations for NP_444427.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI481047, AK034514, BY723942, CK343762
      Consensus CDS
      CCDS29856.1
      UniProtKB/Swiss-Prot
      Q544M7, Q8C1Z2, Q91V61
      Related
      ENSMUSP00000059419.6, ENSMUST00000062213.13
      Conserved Domains (1) summary
      pfam03820
      Location:15 → 321
      Mtc; Tricarboxylate carrier

    RNA

    1. NR_155547.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC132957, AI481047

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      45036015..45044822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91V61.1 GenPept UniProtKB/Swiss-Prot:Q91V61

    Gene LinkOut

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

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