MFN1
Mitofusin-1
Also known as: FLJ20693, MFN1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IWA4
- Gene
- MFN1
- Ensembl
- ENSG00000171109
- Chromosome
- 3
- Canonical length
- 741 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Mitochondria
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
741 residues, UniProt reviewed canonical sequence.
>Q8IWA4|MFN1
1 MAEPVSPLKH FVLAKKAITA IFDQLLEFVT EGSHFVEATY KNPELDRIAT EDDLVEMQGY
61 KDKLSIIGEV LSRRHMKVAF FGRTSSGKSS VINAMLWDKV LPSGIGHITN CFLSVEGTDG
121 DKAYLMTEGS DEKKSVKTVN QLAHALHMDK DLKAGCLVRV FWPKAKCALL RDDLVLVDSP
181 GTDVTTELDS WIDKFCLDAD VFVLVANSES TLMNTEKHFF HKVNERLSKP NIFILNNRWD
241 ASASEPEYME DVRRQHMERC LHFLVEELKV VNALEAQNRI FFVSAKEVLS ARKQKAQGMP
301 ESGVALAEGF HARLQEFQNF EQIFEECISQ SAVKTKFEQH TIRAKQILAT VKNIMDSVNL
361 AAEDKRHYSV EEREDQIDRL DFIRNQMNLL TLDVKKKIKE VTEEVANKVS CAMTDEICRL
421 SVLVDEFCSE FHPNPDVLKI YKSELNKHIE DGMGRNLADR CTDEVNALVL QTQQEIIENL
481 KPLLPAGIQD KLHTLIPCKK FDLSYNLNYH KLCSDFQEDI VFRFSLGWSS LVHRFLGPRN
541 AQRVLLGLSE PIFQLPRSLA STPTAPTTPA TPDNASQEEL MITLVTGLAS VTSRTSMGII
601 IVGGVIWKTI GWKLLSVSLT MYGALYLYER LSWTTHAKER AFKQQFVNYA TEKLRMIVSS
661 TSANCSHQVK QQIATTFARL CQQVDITQKQ LEEEIARLPK EIDQLEKIQN NSKLLRNKAV
721 QLENELENFT KQFLPSSNEE SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MFN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 22 nTPM
- pancreas: 17 nTPM
- tongue: 15 nTPM
- epididymis: 14 nTPM
- skin: 14 nTPM
- salivary gland: 13 nTPM
Single-cell type
- endometrial glandular cells: 129 nCPM
- oligodendrocytes: 105 nCPM
- neutrophils: 103 nCPM
- endometrial luminal cells: 94 nCPM
- other brain neurons: 91 nCPM
- pancreatic acinar cells: 90 nCPM
Immune cell
- naive B-cell: 6.2 nTPM
- eosinophil: 5.8 nTPM
- neutrophil: 5.7 nTPM
- memory B-cell: 5 nTPM
- MAIT T-cell: 4.5 nTPM
- basophil: 4.2 nTPM
Brain region
- white matter: 27 nTPM
- choroid plexus: 27 nTPM
- cerebellum: 26 nTPM
- cerebral cortex: 25 nTPM
- medulla oblongata: 21 nTPM
- basal ganglia: 21 nTPM
ReferencesPubMed · IEDB
Publications for MFN1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
2 publications
- Prediction of Erosive Disease Development by Antimitochondrial Antibodies in Rheumatoid Arthritis.
2023 · Arthritis Rheumatol · RCR 1.3 · 11 citations - Mitochondrial-Mediated Platelet Activation in Polymyalgia Rheumatica.
2025 · ACR Open Rheumatol · 3 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.22
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 16% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- GTP metabolic process
- mitochondrial fusion
- mitochondrion localization
- positive regulation of mitochondrial membrane potential
Molecular functions
Cellular components
- membrane
- mitochondrial outer membrane
- mitochondrion
- outer mitochondrial membrane protein complex
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MFN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MFN1 as an antibody target. Whether an autoantibody or antibody against MFN1 could matter depends on whether native MFN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MFN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MFN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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