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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
  • EC 3.6.5.- 4
  • EC 3.6.5 63
  • 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 charcot-marie-tooth disease and optic atrophy plus syndrome. Among its related pathways are Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. 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

  • Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN1 acts independently of the cytoskeleton. Overexpression induces the formation of mitochondrial networks.

Gene Wiki entry for MFN1 Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MFN1 on UCSC Golden Path with GeneCards custom track

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:
    • Forms homomultimers and heteromultimers with MFN2. Multimerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion (By similarity). Participates in a high molecular weight multiprotein complex. Interacts with VAT1 (By similarity).

    Alternative splice isoforms for MFN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFN1 Gene

Proteomics data for MFN1 Gene at MOPED

Selected DME Specific Peptides for MFN1 Gene

Post-translational modifications for MFN1 Gene

  • Ubiquitinated by non-degradative ubiquitin by PARK2, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion (By similarity). Ubiquitinated by MARCH5. 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.
  • Ubiquitination at Lys 9, Lys 63, Lys 150, Lys 229, Lys 500, and Lys 653
  • Modification sites at PhosphoSitePlus

Other Protein References for MFN1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MFN1 (MFN1)

Domains & Families for MFN1 Gene

Protein Domains for MFN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWA4

UniProtKB/Swiss-Prot:

MFN1_HUMAN :
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
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:
Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN1 acts independently of the cytoskeleton. Overexpression induces the formation of mitochondrial networks.

Enzyme Numbers (IUBMB) for MFN1 Gene

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

Animal Models for MFN1 Gene

MGI Knock Outs for MFN1:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MFN1 Gene 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:0005739 mitochondrion IDA 20871098
GO:0005741 mitochondrial outer membrane IEA,TAS --
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

None

No data available for SIGNOR curated interactions for MFN1 Gene

Drugs & Compounds for MFN1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for MFN1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MFN1: view

Transcripts for MFN1 Gene

Unigene Clusters for MFN1 Gene

Mitofusin 1:
Representative Sequences:

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 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, MOPED, and MaxQB for MFN1 Gene



SOURCE GeneReport for Unigene cluster for MFN1 Gene Hs.478383

mRNA Expression by UniProt/SwissProt for MFN1 Gene

Q8IWA4-MFN1_HUMAN
Tissue specificity: Ubiquitous. Expressed at slightly higher level in kidney and heart. Isoform 2 may be overexpressed in some tumors, such as lung cancers.
genes like me logo Genes that share expression patterns with MFN1: view

Protein tissue co-expression partners for MFN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia MFN1 35
  • 91.62 (n)
  • 90.95 (a)
MFN1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFN1 35
  • 92.12 (n)
  • 91.89 (a)
MFN1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfn1 35
  • 86.47 (n)
  • 90.93 (a)
Mfn1 16
Mfn1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MFN1 35
  • 99.42 (n)
  • 99.33 (a)
MFN1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfn1 35
  • 86.51 (n)
  • 90.8 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MFN1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFN1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFN1 35
  • 76.3 (n)
  • 81.28 (a)
MFN1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFN1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfn1 35
  • 68.9 (n)
  • 69.86 (a)
Str.5541 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13448 35
zebrafish
(Danio rerio)
Actinopterygii mfn1b 35
  • 65.84 (n)
  • 70.17 (a)
zgc66150 35
mfn1b 36
  • 63 (a)
OneToMany
MFN1 (3 of 4) 36
  • 77 (a)
OneToMany
MFN1 (2 of 4) 36
  • 52 (a)
OneToMany
CABZ01055591.1 36
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Marf 36
  • 42 (a)
ManyToMany
fzo 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea fzo-1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2520 36
  • 47 (a)
OneToMany
Species with no ortholog for MFN1:
  • 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
rs7637065 - 179,378,720(+) ATTTC(A/C/G)TTTTT reference, missense
VAR_036115 A colorectal cancer sample
rs34743 -- 179,382,341(+) cttgc(A/G)atagt intron-variant
rs34744 -- 179,382,556(+) tagca(C/G)catga intron-variant
rs34745 -- 179,382,749(+) acttt(G/T)taatg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829806 CNV Gain 17160897
nsv471116 CNV Gain 18288195
nsv4138 CNV Insertion 18451855
nsv4139 CNV Insertion 18451855

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

HapMap Linkage Disequilibrium report
MFN1

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

Disorders for MFN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • dejerine-sottas disease
optic atrophy plus syndrome
  • optic atrophy
optic nerve disease
  • disorder of optic nerve
cranial nerve disease
  • cranial nerve disorder
- 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 23 67
  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 23
  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 23
  4. Mitofusins 1/2 and ERRalpha expression are increased in human skeletal muscle after physical exercise. (PMID: 15961417) Cartoni R. … Russell A.P. (J. Physiol. (Lond.) 2005) 3 23
  5. OPA1 requires mitofusin 1 to promote mitochondrial fusion. (PMID: 15509649) Cipolat S. … Scorrano L. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 23

Products for MFN1 Gene

Sources for MFN1 Gene

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