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    Mfn1 mitofusin 1 [ Mus musculus (house mouse) ]

    Gene ID: 67414, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mfn1provided by MGI
    Official Full Name
    mitofusin 1provided by MGI
    Primary source
    MGI:MGI:1914664
    See related
    Ensembl:ENSMUSG00000027668 AllianceGenome:MGI:1914664
    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
    HR2; mKIAA4032; D3Ertd265e; 2310002F04Rik; 6330416C07Rik
    Summary
    Predicted to enable GTPase activity and identical protein binding activity. Involved in mitochondrial fusion and positive regulation of mitochondrial membrane potential. Located in mitochondrion. Is expressed in early conceptus; embryo; heart; and placenta. Orthologous to human MFN1 (mitofusin 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 25.3), cerebellum adult (RPKM 17.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mfn1 in Genome Data Viewer
    Location:
    3 A3; 3 15.75 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (32583594..32633384)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (32529443..32579225)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Neighboring gene STARR-positive B cell enhancer ABC_E6047 Neighboring gene potassium large conductance calcium-activated channel, subfamily M, beta member 3 Neighboring gene STARR-seq mESC enhancer starr_07337 Neighboring gene STARR-positive B cell enhancer ABC_E6048 Neighboring gene STARR-seq mESC enhancer starr_07340 Neighboring gene STARR-positive B cell enhancer ABC_E2662 Neighboring gene zinc finger protein 639 Neighboring gene STARR-seq mESC enhancer starr_07342 Neighboring gene guanine nucleotide binding protein (G protein), beta 4 Neighboring gene STARR-seq mESC enhancer starr_07343 Neighboring gene STARR-seq mESC enhancer starr_07344 Neighboring gene STARR-seq mESC enhancer starr_07347 Neighboring gene STARR-seq mESC enhancer starr_07348 Neighboring gene STARR-positive B cell enhancer ABC_E179 Neighboring gene actin-like 6A Neighboring gene mitochondrial ribosomal protein L47

    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. Mitofusin 1 is required for female fertility and to maintain ovarian follicular reserve. Zhang M, et al. Cell Death Dis, 2019 Jul 22. PMID 31332167, Free PMC Article
    2. Mitochondrial dysfunction caused by targeted deletion of Mfn1 does not result in telomere shortening in oocytes. Cozzolino M, et al. Zygote, 2022 Oct. PMID 35730364
    3. Disruption of mitochondrial dynamics triggers muscle inflammation through interorganellar contacts and mitochondrial DNA mislocation. Irazoki A, et al. Nat Commun, 2023 Jan 6. PMID 36609505, Free PMC Article
    4. Cardiomyocyte deletion of mitofusin-1 leads to mitochondrial fragmentation and improves tolerance to ROS-induced mitochondrial dysfunction and cell death. Papanicolaou KN, et al. Am J Physiol Heart Circ Physiol, 2012 Jan 1. PMID 22037195, Free PMC Article
    5. Extracellular regulated kinase phosphorylates mitofusin 1 to control mitochondrial morphology and apoptosis. Pyakurel A, et al. Mol Cell, 2015 Apr 16. PMID 25801171, Free PMC Article

    See all (139) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of Mitofusin 1 in mediating reactive oxygen species in alveolar macrophages during Streptococcuspneumoniae.
      Title: Role of Mitofusin 1 in mediating reactive oxygen species in alveolar macrophages during Streptococcuspneumoniae.
    2. Mitofusin 1 and 2 overexpression reduces AbetaO-mediated ER stress and apoptosis in N2a APPswe cells.
      Title: Mitofusin 1 and 2 overexpression reduces AβO-mediated ER stress and apoptosis in N2a APPswe cells.
    3. Interleukin-6 Facilitates Acute Myeloid Leukemia Chemoresistance via Mitofusin 1-Mediated Mitochondrial Fusion.
      Title: Interleukin-6 Facilitates Acute Myeloid Leukemia Chemoresistance via Mitofusin 1-Mediated Mitochondrial Fusion.
    4. Mitochondrial dysfunction caused by targeted deletion of Mfn1 does not result in telomere shortening in oocytes.
      Title: Mitochondrial dysfunction caused by targeted deletion of Mfn1 does not result in telomere shortening in oocytes.
    5. Mitofusins Mfn1 and Mfn2 Are Required to Preserve Glucose- but Not Incretin-Stimulated beta-Cell Connectivity and Insulin Secretion.
      Title: Mitofusins Mfn1 and Mfn2 Are Required to Preserve Glucose- but Not Incretin-Stimulated β-Cell Connectivity and Insulin Secretion.
    6. MFN1 and MFN2 Are Dispensable for Sperm Development and Functions in Mice.
      Title: MFN1 and MFN2 Are Dispensable for Sperm Development and Functions in Mice.
    7. Cardiac mitofusin-1 is reduced in non-responding patients with idiopathic dilated cardiomyopathy.
      Title: Cardiac mitofusin-1 is reduced in non-responding patients with idiopathic dilated cardiomyopathy.
    8. Changes in Drp1 Function and Mitochondrial Morphology Are Associated with the alpha-Synuclein Pathology in a Transgenic Mouse Model of Parkinson's Disease.
      Title: Changes in Drp1 Function and Mitochondrial Morphology Are Associated with the α-Synuclein Pathology in a Transgenic Mouse Model of Parkinson's Disease.
    9. NFATc3-dependent expression of miR-153-3p promotes mitochondrial fragmentation in cardiac hypertrophy by impairing mitofusin-1 expression.
      Title: NFATc3-dependent expression of miR-153-3p promotes mitochondrial fragmentation in cardiac hypertrophy by impairing mitofusin-1 expression.
    10. MFN2 Plays a Distinct Role from MFN1 in Regulating Spermatogonial Differentiation.
      Title: MFN2 Plays a Distinct Role from MFN1 in Regulating Spermatogonial Differentiation.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (3)  1 citation

    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

    • KIAA4032

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables membrane scission GTPase motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GTP metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GTP metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular distribution of mitochondria ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial fusion IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrion localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrion localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrion organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of mitochondrial fission ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of dendritic spine morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of mitochondrial fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of mitochondrial membrane potential IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of outer mitochondrial membrane protein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of outer mitochondrial membrane protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mitofusin-1
    Names
    transmembrane GTPase MFN1

    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_024200.5 → NP_077162.2  mitofusin-1

      See identical proteins and their annotated locations for NP_077162.2

      Status: VALIDATED

      Source sequence(s)
      AC130281
      Consensus CDS
      CCDS17296.1
      UniProtKB/Swiss-Prot
      Q3URC4, Q811D5, Q811U4, Q8CEY6, Q99M10, Q9D395
      UniProtKB/TrEMBL
      Q571M0
      Related
      ENSMUSP00000088801.5, ENSMUST00000091257.11
      Conserved Domains (2) summary
      cd09912
      Location:76 → 328
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:575 → 735
      Fzo_mitofusin; fzo-like conserved region

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      32583594..32633384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001783736.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q811U4.3 GenPept UniProtKB/Swiss-Prot:Q811U4

    Gene LinkOut

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

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