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MFN1 mitofusin 1 [ Homo sapiens (human) ]

Gene ID: 55669, updated on 9-Jun-2025
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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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables nucleotide binding 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 
acts_upstream_of_or_within mitochondrial fusion IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrial fusion IEA
Inferred from Electronic Annotation
more info
 
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 mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of mitochondrial membrane potential IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
part_of outer mitochondrial membrane protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mitofusin-1
Names
fzo homolog
mitochondrial transmembrane GTPase FZO-2
mitochondrial transmembrane GTPase Fzo-1
putative transmembrane GTPase
transmembrane GTPase MFN1

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.