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Sfxn3 sideroflexin 3 [ Mus musculus (house mouse) ]

Gene ID: 94280, updated on 11-Apr-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

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