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Aliases for MFN1 Gene

Aliases for MFN1 Gene

  • Mitofusin 1 2 3 5
  • Transmembrane GTPase MFN1 3 4
  • Fzo Homolog 3 4
  • Mitochondrial Transmembrane GTPase FZO-2 3
  • Mitochondrial Transmembrane GTPase Fzo-1 3
  • Putative Transmembrane GTPase 3
  • Mitofusin-1 3
  • EC 3.6.5.- 4
  • EC 3.6.5 61
  • Hfzo1 3
  • Hfzo2 3

External Ids for MFN1 Gene

Previous GeneCards Identifiers for MFN1 Gene

  • GC03P175825
  • GC03P179908
  • GC03P180467
  • GC03P180386
  • GC03P180548
  • GC03P179065
  • GC03P176468

Summaries for MFN1 Gene

Entrez Gene Summary for MFN1 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]

GeneCards Summary for MFN1 Gene

MFN1 (Mitofusin 1) is a Protein Coding gene. Diseases associated with MFN1 include Optic Atrophy Plus Syndrome and Optic Nerve Disease. Among its related pathways are Mitophagy - animal and Pink/Parkin Mediated Mitophagy. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is MFN2.

UniProtKB/Swiss-Prot for MFN1 Gene

  • Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major rearrangement of the coiled coil domains (PubMed:27920125, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:12475957, PubMed:12759376). Overexpression induces the formation of mitochondrial networks (in vitro) (PubMed:12759376). Has low GTPase activity (PubMed:27920125, PubMed:28114303).

Gene Wiki entry for MFN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFN1 Gene

Genomics for MFN1 Gene

Regulatory Elements for MFN1 Gene

Enhancers for MFN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G179321 1.1 ENCODE 37.2 -24.2 -24182 4.3 HDGF PKNOX1 CREB3L1 ARNT SIN3A ARID4B FEZF1 DMAP1 ZBTB7B YY1 MFN1 ZNF639 ENSG00000242539 LOC101928739 PIK3CA ENSG00000260743
GH03G179346 1.1 ENCODE 27.8 +0.4 357 3.4 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 MFN1 ZNF639 ENSG00000242539
GH03G179436 1 Ensembl ENCODE 17.4 +90.4 90409 2.6 FOXA2 MAX CEBPG FEZF1 ZNF316 ARID3A MAFK ZBTB20 BHLHE40 HLF MFN1 GNB4 ENSG00000272699
GH03G179448 1 ENCODE 8.7 +103.5 103463 4.4 PKNOX1 ATF1 CREB3L1 SIN3A YY1 ZNF121 ZNF766 GLIS2 ELK1 FOS GNB4 MFN1 ENSG00000272699
GH03G179473 1 FANTOM5 Ensembl ENCODE 4.4 +126.2 126162 1.5 HLF FOS GNB4 ENSG00000239255 MFN1 MTHFD2P7 PIR62273
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFN1 on UCSC Golden Path with GeneCards custom track

Promoters for MFN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162559 -91 2400 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2

Genomic Location for MFN1 Gene

Chromosome:
3
Start:
179,347,692 bp from pter
End:
179,394,931 bp from pter
Size:
47,240 bases
Orientation:
Plus strand

Genomic View for MFN1 Gene

Genes around MFN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFN1 Gene

Proteins for MFN1 Gene

  • Protein details for MFN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWA4-MFN1_HUMAN
    Recommended name:
    Mitofusin-1
    Protein Accession:
    Q8IWA4
    Secondary Accessions:
    • B2RAR1
    • D3DNR6
    • O15323
    • O60639
    • Q9BZB5
    • Q9NWQ2

    Protein attributes for MFN1 Gene

    Size:
    741 amino acids
    Molecular mass:
    84100 Da
    Quaternary structure:
    • Homodimer, also in the absence of bound GTP (PubMed:27920125, PubMed:28114303). Forms higher oligomers in the presence of a transition state GTP analog (PubMed:28114303). Forms homomultimers and heteromultimers with MFN2 (By similarity). Oligomerization is essential for mitochondrion fusion (PubMed:27920125, PubMed:28114303). Component of a high molecular weight multiprotein complex (PubMed:12759376). Interacts with VAT1 (By similarity).
    Miscellaneous:
    • A truncated MFN1 construct containing the GTPase domain and the associated helix bundle is a monomer in the absence of bound GTP and a homodimer in the GTP-bound form; GDP cannot replace GTP and induce dimerization.

    Three dimensional structures from OCA and Proteopedia for MFN1 Gene

    Alternative splice isoforms for MFN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFN1 Gene

Selected DME Specific Peptides for MFN1 Gene

Q8IWA4:
  • FILNNRWD
  • FEECISQSAVKTKF
  • KLLRNKA
  • EKKSVKTVNQLAHALH

Post-translational modifications for MFN1 Gene

  • Ubiquitinated by non-degradative ubiquitin by PARK2 (PubMed:23933751). Deubiquitination by USP30 inhibits mitochondrial fusion (By similarity). Ubiquitinated by MARCH5 (PubMed:20103533). When mitochondria are depolarized and dysfunctional, it is ubiquitinated by a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that contains FBXO7 and PARK2 (PubMed:23933751).
  • Ubiquitination at posLast=99, posLast=6363, Lys150, Lys229, Lys500, and Lys653
  • Modification sites at PhosphoSitePlus

Domains & Families for MFN1 Gene

Protein Domains for MFN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWA4

UniProtKB/Swiss-Prot:

MFN1_HUMAN :
  • A helix bundle is formed by helices from the N-terminal and the C-terminal part of the protein. The GTPase domain cannot be expressed by itself, without the helix bundle. Rearrangement of the helix bundle and/or of the coiled coil domains may bring membranes from adjacent mitochondria into close contact, and thereby play a role in mitochondrial fusion.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.
Domain:
  • A helix bundle is formed by helices from the N-terminal and the C-terminal part of the protein. The GTPase domain cannot be expressed by itself, without the helix bundle. Rearrangement of the helix bundle and/or of the coiled coil domains may bring membranes from adjacent mitochondria into close contact, and thereby play a role in mitochondrial fusion.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.
genes like me logo Genes that share domains with MFN1: view

No data available for Gene Families for MFN1 Gene

Function for MFN1 Gene

Molecular function for MFN1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.
UniProtKB/Swiss-Prot Function:
Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major rearrangement of the coiled coil domains (PubMed:27920125, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:12475957, PubMed:12759376). Overexpression induces the formation of mitochondrial networks (in vitro) (PubMed:12759376). Has low GTPase activity (PubMed:27920125, PubMed:28114303).

Enzyme Numbers (IUBMB) for MFN1 Gene

Gene Ontology (GO) - Molecular Function for MFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IMP,IEA 28114303
GO:0005515 protein binding IPI 20019757
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MFN1: view
genes like me logo Genes that share phenotypes with MFN1: view

Animal Models for MFN1 Gene

MGI Knock Outs for MFN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MFN1 Gene

Localization for MFN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFN1 Gene

Mitochondrion outer membrane; Multi-pass membrane protein.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFN1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 20871098
GO:0005741 mitochondrial outer membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA,IEA 27920125
genes like me logo Genes that share ontologies with MFN1: view

Pathways & Interactions for MFN1 Gene

genes like me logo Genes that share pathways with MFN1: view

Pathways by source for MFN1 Gene

Gene Ontology (GO) - Biological Process for MFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008053 mitochondrial fusion IEA,IMP 23921378
GO:0016236 macroautophagy TAS --
GO:0046039 GTP metabolic process IDA 27920125
GO:0051646 mitochondrion localization IMP 12759376
GO:1990613 mitochondrial membrane fusion IMP 12759376
genes like me logo Genes that share ontologies with MFN1: view

No data available for SIGNOR curated interactions for MFN1 Gene

Drugs & Compounds for MFN1 Gene

(5) Drugs for MFN1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with MFN1: view

Transcripts for MFN1 Gene

Unigene Clusters for MFN1 Gene

Mitofusin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2:
SP3:

Relevant External Links for MFN1 Gene

GeneLoc Exon Structure for
MFN1
ECgene alternative splicing isoforms for
MFN1

Expression for MFN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MFN1 Gene

This gene is overexpressed in Spinal cord (40.6) and Plasma (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MFN1 Gene



Protein tissue co-expression partners for MFN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MFN1 Gene:

MFN1

SOURCE GeneReport for Unigene cluster for MFN1 Gene:

Hs.478383

mRNA Expression by UniProt/SwissProt for MFN1 Gene:

Q8IWA4-MFN1_HUMAN
Tissue specificity: Detected in kidney and heart (at protein level) (PubMed:12759376). Ubiquitous (PubMed:11950885, PubMed:12759376). Expressed at slightly higher level in kidney and heart (PubMed:12759376). Isoform 2 may be overexpressed in some tumors, such as lung cancers (PubMed:11751411).

Evidence on tissue expression from TISSUES for MFN1 Gene

  • Nervous system(4.6)
  • Heart(4.5)
  • Liver(4.3)
  • Intestine(4.2)
  • Muscle(2.5)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with MFN1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFN1 Gene

Orthologs for MFN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFN1 34 35
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia MFN1 34 35
  • 92.12 (n)
cow
(Bos Taurus)
Mammalia MFN1 34 35
  • 91.62 (n)
rat
(Rattus norvegicus)
Mammalia Mfn1 34
  • 86.51 (n)
mouse
(Mus musculus)
Mammalia Mfn1 34 16 35
  • 86.47 (n)
oppossum
(Monodelphis domestica)
Mammalia MFN1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFN1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFN1 34 35
  • 76.3 (n)
lizard
(Anolis carolinensis)
Reptilia MFN1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfn1 34
  • 68.9 (n)
Str.5541 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13448 34
zebrafish
(Danio rerio)
Actinopterygii MFN1 (3 of 4) 35
  • 77 (a)
OneToMany
mfn1b 34 35
  • 65.84 (n)
CABZ01055591.1 35
  • 64 (a)
OneToMany
MFN1 (2 of 4) 35
  • 52 (a)
OneToMany
zgc66150 34
fruit fly
(Drosophila melanogaster)
Insecta Marf 35
  • 42 (a)
ManyToMany
fzo 35
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea fzo-1 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2520 35
  • 47 (a)
OneToMany
Species where no ortholog for MFN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MFN1 Gene

ENSEMBL:
Gene Tree for MFN1 (if available)
TreeFam:
Gene Tree for MFN1 (if available)

Paralogs for MFN1 Gene

Paralogs for MFN1 Gene

(4) SIMAP similar genes for MFN1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for MFN1 Gene

genes like me logo Genes that share paralogs with MFN1: view

Variants for MFN1 Gene

Sequence variations from dbSNP and Humsavar for MFN1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_036115 A colorectal cancer sample
rs1000030520 -- 179,350,475(+) AAATA(A/G)TAGGA intron-variant
rs1000046357 -- 179,357,220(+) AATGG(A/T)CAGTA intron-variant
rs1000080119 -- 179,356,993(+) ACCCA(A/G)AGTGT intron-variant
rs1000090840 -- 179,356,900(+) TTAAT(C/T)GTAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFN1 Gene

Variant ID Type Subtype PubMed ID
dgv4999n100 CNV gain 25217958
esv3569140 CNV loss 25503493
esv3569141 CNV loss 25503493
esv3893828 CNV loss 25118596
nsv4138 CNV insertion 18451855
nsv4139 CNV insertion 18451855
nsv471116 CNV gain 18288195
nsv592650 CNV gain 21841781
nsv829806 CNV gain 17160897

Variation tolerance for MFN1 Gene

Residual Variation Intolerance Score: 19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFN1 Gene

Disorders for MFN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MFN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
optic atrophy plus syndrome
  • optic atrophy
optic nerve disease
  • disorder of the second nerve
cranial nerve disease
  • cranial nerve disorder
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
spastic paraplegia 7, autosomal recessive
  • hereditary spastic paraplegia 7
- elite association - COSMIC cancer census association via MalaCards
Search MFN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MFN1

Genetic Association Database (GAD)
MFN1
Human Genome Epidemiology (HuGE) Navigator
MFN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFN1
genes like me logo Genes that share disorders with MFN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFN1 Gene

Publications for MFN1 Gene

  1. Control of mitochondrial morphology by a human mitofusin. (PMID: 11181170) Santel A. … Fuller M.T. (J. Cell Sci. 2001) 2 3 4 22 64
  2. Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1. (PMID: 20103533) Park Y.Y. … Cho H. (J. Cell Sci. 2010) 3 4 22 64
  3. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C. … Weisschuh N. (BMC Med. Genet. 2009) 3 22 46 64
  4. Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. (PMID: 12759376) Santel A. … Fuller M.T. (J. Cell Sci. 2003) 3 4 22 64
  5. Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins. (PMID: 12475957) Legros F. … Rojo M. (Mol. Biol. Cell 2002) 3 4 22 64

Products for MFN1 Gene

Sources for MFN1 Gene

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