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Mfn1 mitofusin 1 [ Mus musculus (house mouse) ]

Gene ID: 67414, updated on 27-Nov-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, Nov 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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