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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
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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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