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    MFN1 mitofusin 1 [ Homo sapiens (human) ]

    Gene ID: 55669, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MFN1 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179347709..179394936)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182151549..182198775)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 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
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_033540.3NP_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:76328
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:575734
      Fzo_mitofusin; fzo-like conserved region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_005247596.5XP_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:76328
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:575734
      Fzo_mitofusin; fzo-like conserved region
    2. XM_011512963.4XP_011511265.1  mitofusin-1 isoform X2

      UniProtKB/TrEMBL
      Q6AI38
      Related
      ENSP00000419926.1, ENST00000474903.1
      Conserved Domains (2) summary
      pfam04799
      Location:428587
      Fzo_mitofusin; fzo-like conserved region
      cl21455
      Location:23181
      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_054347195.1XP_054203170.1  mitofusin-1 isoform X1

      UniProtKB/Swiss-Prot
      A0A0C4DFN1, B2RAR1, D3DNR6, O15323, O60639, Q8IWA4, Q9BZB5, Q9NWQ2
      UniProtKB/TrEMBL
      Q4AEJ3
    2. XM_054347196.1XP_054203171.1  mitofusin-1 isoform X2

      UniProtKB/TrEMBL
      Q6AI38

    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.