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    MFN1 mitofusin 1 [ Homo sapiens (human) ]

    Gene ID: 55669, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MFN1provided by HGNC
    Official Full Name
    mitofusin 1provided by HGNC
    Primary source
    HGNC:HGNC:18262
    See related
    Ensembl:ENSG00000171109 MIM:608506; AllianceGenome:HGNC:18262
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hfzo1; hfzo2
    Summary
    The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 9.7), prostate (RPKM 9.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q26.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179347709..179394936)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182151549..182198775)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179065497..179112724)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:178980593-178981094 Neighboring gene potassium calcium-activated channel subfamily M regulatory beta subunit 3 Neighboring gene LRR binding FLII interacting protein 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:179008749-179009491 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20865 Neighboring gene zinc finger protein 639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179065206-179065735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20866 Neighboring gene G protein subunit beta 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20867 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:179160994-179161145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14919 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:179178405-179178606 Neighboring gene translation machinery-associated protein 7-like Neighboring gene ribosomal protein L29 pseudogene 34

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. LncRNA gadd7 promotes mitochondrial membrane potential decrease and apoptosis of alveolar type II epithelial cells by positively regulating MFN1 in an in vitro model of hyperoxia-induced acute lung injury. Liu G, et al. Eur J Histochem, 2023 May 31. PMID 37254890, Free PMC Article
    2. Mitochondrial Fusion Mediated by Mitofusin 1 Regulates Macrophage Mycobactericidal Activity by Enhancing Autophagy. Ning Y, et al. Infect Immun, 2021 Oct 15. PMID 34370506, Free PMC Article
    3. The GDP-Bound State of Mitochondrial Mfn1 Induces Membrane Adhesion of Apposing Lipid Vesicles through a Cooperative Binding Mechanism. Tolosa-Díaz A, et al. Biomolecules, 2020 Jul 21. PMID 32708307, Free PMC Article
    4. MFN1-dependent alteration of mitochondrial dynamics drives hepatocellular carcinoma metastasis by glucose metabolic reprogramming. Zhang Z, et al. Br J Cancer, 2020 Jan. PMID 31819189, Free PMC Article
    5. Identification and characterization of signal peptide of Mitofusin1 (Mfn1). Sinha S, et al. Biochem Biophys Res Commun, 2019 Feb 12. PMID 30635120

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MITOFUSIN 1 AS A MARKER FOR EMBRYO QUALITY AND DEVELOPMENT IN RELEVANCE TO ICSI OUTCOME IN INFERTILE FEMALES.
      Title: MITOFUSIN 1 AS A MARKER FOR EMBRYO QUALITY AND DEVELOPMENT IN RELEVANCE TO ICSI OUTCOME IN INFERTILE FEMALES.
    2. Evaluation of the role of mitofusin-1 and mitofusin-2 in periodontal disease.
      Title: Evaluation of the role of mitofusin-1 and mitofusin-2 in periodontal disease.
    3. Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
      Title: Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
    4. LncRNA gadd7 promotes mitochondrial membrane potential decrease and apoptosis of alveolar type II epithelial cells by positively regulating MFN1 in an in vitro model of hyperoxia-induced acute lung injury.
      Title: LncRNA gadd7 promotes mitochondrial membrane potential decrease and apoptosis of alveolar type II epithelial cells by positively regulating MFN1 in an in vitro model of hyperoxia-induced acute lung injury.
    5. Identification of Mitofusin 1 and Complement Component 1q Subcomponent Binding Protein as Mitochondrial Targets in Systemic Lupus Erythematosus.
      Title: Identification of Mitofusin 1 and Complement Component 1q Subcomponent Binding Protein as Mitochondrial Targets in Systemic Lupus Erythematosus.
    6. Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry.
      Title: Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry.
    7. Miro1 functions as an inhibitory regulator of MFN at elevated mitochondrial Ca(2+) levels.
      Title: Miro1 functions as an inhibitory regulator of MFN at elevated mitochondrial Ca(2+) levels.
    8. The effect of gestational diabetes on the expression of mitochondrial fusion proteins in placental tissue.
      Title: The effect of gestational diabetes on the expression of mitochondrial fusion proteins in placental tissue.
    9. Analysis of mitochondrial regulatory transcripts in publicly available datasets with validation in placentae from pre-term, post-term and fetal growth restriction pregnancies.
      Title: Analysis of mitochondrial regulatory transcripts in publicly available datasets with validation in placentae from pre-term, post-term and fetal growth restriction pregnancies.
    10. Role of the lipid transport protein StarD7 in mitochondrial dynamics.
      Title: Role of the lipid transport protein StarD7 in mitochondrial dynamics.
    Submit: New GeneRIF Correction See all GeneRIFs (55)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    • FLJ20693, MGC41806, DKFZp762F247

    Gene Ontology Provided by GOA

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GTP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of outer mitochondrial membrane protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitofusin-1
    Names
    fzo homolog
    mitochondrial transmembrane GTPase FZO-2
    mitochondrial transmembrane GTPase Fzo-1
    putative transmembrane GTPase
    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_033540.3 → NP_284941.2  mitofusin-1

      See identical proteins and their annotated locations for NP_284941.2

      Status: REVIEWED

      Source sequence(s)
      AC007620, AI656503, AK000700, BC040557
      Consensus CDS
      CCDS3228.1
      UniProtKB/Swiss-Prot
      A0A0C4DFN1, B2RAR1, D3DNR6, O15323, O60639, Q8IWA4, Q9BZB5, Q9NWQ2
      UniProtKB/TrEMBL
      Q4AEJ3
      Related
      ENSP00000420617.1, ENST00000471841.6
      Conserved Domains (2) summary
      cd09912
      Location:76 → 328
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:575 → 734
      Fzo_mitofusin; fzo-like conserved region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      179347709..179394936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247596.5 → XP_005247653.2  mitofusin-1 isoform X1

      See identical proteins and their annotated locations for XP_005247653.2

      UniProtKB/Swiss-Prot
      A0A0C4DFN1, B2RAR1, D3DNR6, O15323, O60639, Q8IWA4, Q9BZB5, Q9NWQ2
      UniProtKB/TrEMBL
      Q4AEJ3
      Conserved Domains (2) summary
      cd09912
      Location:76 → 328
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:575 → 734
      Fzo_mitofusin; fzo-like conserved region

    2. XM_011512963.4 → XP_011511265.1  mitofusin-1 isoform X2

      UniProtKB/TrEMBL
      Q6AI38
      Related
      ENSP00000419926.1, ENST00000474903.1
      Conserved Domains (2) summary
      pfam04799
      Location:428 → 587
      Fzo_mitofusin; fzo-like conserved region
      cl21455
      Location:23 → 181
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      182151549..182198775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347195.1 → XP_054203170.1  mitofusin-1 isoform X1

      UniProtKB/Swiss-Prot
      A0A0C4DFN1, B2RAR1, D3DNR6, O15323, O60639, Q8IWA4, Q9BZB5, Q9NWQ2

    2. XM_054347196.1 → XP_054203171.1  mitofusin-1 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017927.2: Suppressed sequence

      Description
      NM_017927.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWA4.3 GenPept UniProtKB/Swiss-Prot:Q8IWA4

    Gene LinkOut

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

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