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Aliases for MFN1 Gene

Aliases for MFN1 Gene

  • Mitofusin 1 2 3
  • 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 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. Among its related pathways are Hemostasis 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MFN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys9, Lys63, Lys150, Lys229, Lys500, and Lys653
  • Modification sites at PhosphoSitePlus

Other Protein References for MFN1 Gene

Antibody Products

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

Domains for MFN1 Gene

Protein Domains for MFN1 Gene

Suggested Antigen Peptide Sequences for MFN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWA4

UniProtKB/Swiss-Prot:

MFN1_HUMAN :
  • Q8IWA4
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

Gene Ontology (GO) - Molecular Function for MFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 20019757
GO:0005525 GTP binding 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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MFN1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting 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
plasma membrane 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 --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFN1: view

Pathways for MFN1 Gene

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

Pathways by source for MFN1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0008053 mitochondrial fusion IMP 23921378
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with MFN1: view

Compounds for MFN1 Gene

(1) HMDB Compounds for MFN1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(1) Novoseek inferred chemical compound relationships for MFN1 Gene

Compound -log(P) Hits PubMed IDs
nitric oxide 0 3
genes like me logo Genes that share compounds with MFN1: view

Transcripts for MFN1 Gene

Unigene Clusters for MFN1 Gene

Mitofusin 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MFN1

Primer Products

Flow Cytometry 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 for MFN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for MFN1 Gene

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

Integrated Proteomics: protein expression 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 expressions with MFN1: view

Expression partners for MFN1 Gene

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)
oppossum
(Monodelphis domestica)
Mammalia MFN1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
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
CABZ01055591.1 36
  • 64 (a)
OneToMany
MFN1 (2 of 4) 36
  • 52 (a)
OneToMany
MFN1 (3 of 4) 36
  • 77 (a)
OneToMany
mfn1b 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta fzo 36
  • 33 (a)
ManyToMany
Marf 36
  • 42 (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

Selected 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 MAF
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
rs34746 -- 179,382,898(+) tcctt(C/G/T)gccca intron-variant
rs1061318 -- 179,392,837(+) AAAAA(A/G)GCTGT utr-variant-3-prime

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

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

(2) University of Copenhagen DISEASES for MFN1 Gene

Relevant External Links for MFN1

Genetic Association Database (GAD)
MFN1
Human Genome Epidemiology (HuGE) Navigator
MFN1
genes like me logo Genes that share disorders with MFN1: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships 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
  2. 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 23
  3. 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 23
  4. 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 48
  5. 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 23

Products for MFN1 Gene

Sources for MFN1 Gene

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