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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MFN1 Gene

protein-coding   GIFtS: 63
GCID: GC03P179065

Mitofusin 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mitofusin 11 2     Mitochondrial Transmembrane GTPase FZO-22
Fzo Homolog2 3     mitofusin-12
Transmembrane GTPase MFN12 3     Putative Transmembrane GTPase2
hfzo12     EC 3.6.5.-3
hfzo22     EC 3.6.58
Mitochondrial Transmembrane GTPase Fzo-12     

External Ids:    HGNC: 182621   Entrez Gene: 556692   Ensembl: ENSG000001711097   OMIM: 6085065   UniProtKB: Q8IWA43   

Export aliases for MFN1 gene to outside databases

Previous GC identifers: GC03P175825 GC03P179908 GC03P180467 GC03P180386 GC03P180548 GC03P176468


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and charcot-marie-tooth disease, and among its related super-pathways are Platelet activation, signaling and aggregation. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is MFN2.

UniProtKB/Swiss-Prot: MFN1_HUMAN, Q8IWA4
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

Gene Wiki entry for MFN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MFN1 gene promoter:
         ER-alpha   Elk-1   Brachyury   NCX/Ncx   Cdc5   LCR-F1   Nkx6-1   FOXO4   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMFN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MFN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.33   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q26.32

MFN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFN1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P179065:  view genomic region     (about GC identifiers)

Start:
179,065,480 bp from pter      End:
179,112,719 bp from pter
Size:
47,240 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MFN1_HUMAN, Q8IWA4 (See protein sequence)
Recommended Name: Mitofusin-1  
Size: 741 amino acids; 84100 Da
Subunit: 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)
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein (Probable)
Subcellular location: Isoform 2: Cytoplasm
Secondary accessions: B2RAR1 D3DNR6 O15323 O60639 Q9BZB5 Q9NWQ2
Alternative splicing: 3 isoforms:  Q8IWA4-1   Q8IWA4-2   Q8IWA4-3   

Explore the universe of human proteins at neXtProt for MFN1: NX_Q8IWA4

Explore proteomics data for MFN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by MARCH5
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWA4

  • 4 DME Specific Peptides for MFN1 (Q8IWA4)
     KLLRNKA  FILNNRWD  FEECISQSAVKTKF  EKKSVKTVNQLAHALH 

    MFN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MFN1 Protein Expression
    REFSEQ proteins: NP_284941.2  
    ENSEMBL proteins: 
     ENSP00000420617   ENSP00000349963   ENSP00000419134   ENSP00000263969   ENSP00000420148  
     ENSP00000419926   ENSP00000280653  
    Reactome Protein details: Q8IWA4
    Human Recombinant Protein Products for MFN1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MFN1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0016021integral to membrane NAS--

    MFN1 for ontologies           About GeneDecksing



    MFN1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR006884 Fzo/mitofusin_HR2
     IPR001401 Dynamin_GTPase
     IPR027417 P-loop_NTPase
     IPR027088 Mitofusin-1
     IPR027094 Mitofusin_fam

    Graphical View of Domain Structure for InterPro Entry Q8IWA4

    ProtoNet protein and cluster: Q8IWA4

    UniProtKB/Swiss-Prot: MFN1_HUMAN, Q8IWA4
    Similarity: Belongs to the mitofusin family


    MFN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MFN1_HUMAN, Q8IWA4
    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
    Catalytic activity: GTP + H(2)O = GDP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.52 EC 3.6.5.-1

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity NAS--
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
         
    MFN1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mfn1):
     behavior/neurological  cellular  embryogenesis  growth/size  mortality/aging 
     nervous system  normal 

    MFN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mfn1tm1Dcc for MFN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MFN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MFN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MFN1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMFN1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFN1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MFN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet activation, signaling and aggregation
    Hemostasis0.43
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for MFN1
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    MFN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MFN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/10 Interacting proteins for MFN1 (Q8IWA42, 3 ENSP000002639694) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MFN2O951402, 3MINT-8258771 I2D: score=1 
    MAVSQ7Z4342, 3, ENSP000004019804MINT-7714001 MINT-7713992 I2D: score=2 STRING: ENSP00000401980
    BAK1Q166112, 3, ENSP000003635914MINT-8258771 I2D: score=1 STRING: ENSP00000363591
    PARK2O602603, ENSP000003558654I2D: score=1 STRING: ENSP00000355865
    MARCH5Q9NX473, ENSP000003518134I2D: score=1 STRING: ENSP00000351813
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0008053mitochondrial fusion IMP--

    MFN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MFN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MFN1

    1 HMDB Compound for MFN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for MFN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitric oxide 0 5 16874299 (2), 17053808 (1)

    Search CenterWatch for drugs/clinical trials and news about MFN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MFN1 gene (2 alternative transcripts): 
    NM_033540.2  NM_017927.2  

    Unigene Cluster for MFN1:

    Mitofusin 1
    Hs.478383  [show with all ESTs]
    Unigene Representative Sequence: NM_033540
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471841(uc003fjs.3 uc010hxb.3 uc003fjt.3 uc010hxc.3)
    ENST00000357390 ENST00000467174 ENST00000263969 ENST00000489329 ENST00000474903
    ENST00000466287 ENST00000482661 ENST00000480636 ENST00000280653
    miRNA
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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate MFN1 (see all 22):
    hsa-miR-4254 hsa-miR-125a-5p hsa-miR-4328 hsa-miR-539 hsa-miR-485-3p hsa-miR-488 hsa-miR-374c hsa-miR-483-3p
    SwitchGear 3'UTR luciferase reporter plasmidMFN1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MFN1
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    Sirion Biotech Customized lentivirus for stable overexpression of MFN1 
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    Additional mRNA sequence: 

    AB043588.1 AB043589.1 AF054986.1 AF329637.1 AK314306.1 BC020661.1 BC040557.1 CR627379.1 
    U95822.1 

    9 DOTS entries:

    DT.451792  DT.99954192  DT.92052320  DT.92052321  DT.120906512  DT.120906526  DT.91689734  DT.431038 
    DT.91814703 

    24/149 AceView cDNA sequences (see all 149):

    BC040557 CR627379 CN481819 AW089222 BM680765 AL046082 AI206138 AI284589 
    CK906065 AI679339 BM817706 BU182892 AI902954 BF222194 BM827314 BM127153 
    AI623891 AW418886 BU150424 BF446140 NM_017927 CB044379 AI675611 AW291883 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MFN1    About this scheme

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


    ECgene alternative splicing isoforms for MFN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MFN1 expression in normal human tissues (normalized intensities)      MFN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGCTATGT
    MFN1 Expression
    About this image


    MFN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Lung (Respiratory System)
             trachea   

    See MFN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFN1

    SOURCE GeneReport for Unigene cluster: Hs.478383

    UniProtKB/Swiss-Prot: MFN1_HUMAN, Q8IWA4
    Tissue specificity: Ubiquitous. Expressed at slightly higher level in kidney and heart. Isoform 2 may be
    overexpressed in some tumors, such as lung cancers

        SABiosciences Expression via Pathway-Focused PCR Array including MFN1: 
              Mitochondria in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MFN1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfn11 , 5 mitofusin 11, 5 86.59(n)1
    90.55(a)1
      3 (15.75 cM)5
    674141  NM_024200.41  NP_077162.21 
     325294655 
    chicken
    (Gallus gallus)
    Aves MFN11 mitofusin 1 76.53(n)
    81.55(a)
      424973  NM_001012931.2  NP_001012949.1 
    lizard
    (Anolis carolinensis)
    Reptilia MFN16
    Uncharacterized protein
    79(a)
    1 ↔ 1
    3(2249664-2270603)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.134482 Xenopus laevis transcribed sequence with moderate similarity more 80.86(n)    CF520154.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661502 hypothetical protein MGC66150 73.57(n)   393620  BC057468.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Marf6
    fzo6
    fuzzy onions
    42(a)
    32(a)
    many ↔ many
    many ↔ many
    X(6259982-6264960)
    3R(19027366-19029756)
    worm
    (Caenorhabditis elegans)
    Secernentea fzo-16
    Transmembrane GTPase fzo-1
    32(a)
    1 → many
    II(5833328-5836203)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MFN1 gene
    MFN22  
    4 SIMAP similar genes for MFN1 using alignment to 5 protein entries:     MFN1_HUMAN (see all proteins):
    hfzo1    DKFZp762F247    hfzo2    MFN2

    MFN1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for MFN1
    PGOHUM00000236247 PGOHUM00000236248 PGOHUM00000241944


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/974 SNPs in MFN1 are shown (see all 974)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361154
    A colorectal cancer sample4--see VAR_0361152 D H mis40--------
    VAR_0186064
    ----see VAR_0186062 P R mis40--------
    rs1501777281,2
    --178925901(+) GCACCC/TGGCAA 1 -- us2k10--------
    rs769665061,2
    C--178925934(+) GTAATA/GGAAAG 1 -- us2k10--------
    rs119270841,2
    C,F,H--178926304(+) ACACAC/TACACA 1 -- us2k16Minor allele frequency- T:0.17NA WA 310
    rs778173751,2
    F--178926368(+) TGCTAT/AAATTT 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1867973791,2
    --178926444(+) CAGAAC/TTAATA 1 -- us2k10--------
    rs1911884161,2
    C--178926474(+) TTTAAA/GATTCA 1 -- us2k10--------
    rs801767231,2
    F--178926578(+) GTGTCC/TCCCAA 1 -- us2k12Minor allele frequency- T:0.03WA NA 238
    rs750851571,2
    C,F--178926706(+) TGCTCC/TCCAGT 1 -- us2k11Minor allele frequency- T:0.05WA 118

    HapMap Linkage Disequilibrium report for MFN1 (179065480 - 179112719 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MFN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv4139CNV Insertion18451855
    nsv4138CNV Insertion18451855
    nsv471116CNV Gain18288195
    nsv829806CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608506    OMIM disorders: --

    8 diseases for MFN1:    About MalaCards
    optic atrophy    charcot-marie-tooth disease    tooth disease    glaucoma
    obesity    lung cancer    endotheliitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for MFN1:
    Optic atrophy     Charcot-Marie-Tooth disease

    MFN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MFN1
    Human Genome Epidemiology (HuGE) Navigator: MFN1 (2 documents)

    Export disorders for MFN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MFN1 gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with MFN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Control of mitochondrial morphology by a human mitofusin. (PubMed id 11181170)1, 2, 3, 9 Santel A. and Fuller M.T. (2001)
    2. Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. (PubMed id 12759376)1, 2, 9 Santel A.... Fuller M.T. (2003)
    3. Evaluation of nine candidate genes in patients with n ormal tension glaucoma: a case control study. (PubMed id 19754948)1, 4, 9 Wolf C....Weisschuh N. (2009)
    4. Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins. (PubMed id 12475957)1, 2, 9 Legros F.... Rojo M. (2002)
    5. Loss of MARCH5 mitochondrial E3 ubiquitin ligase indu ces cellular senescence through dynamin-related protein 1 and mitofusin 1. (PubMed id 20103533)1, 2, 9 Park Y.Y....Cho H. (2010)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. (PubMed id 11950885)1, 2 Rojo M.... Lombes A. (2002)
    10. Novel transmembrane GTPase of non-small cell lung cancer identified by mRNA differential display. (PubMed id 11751411)1, 2 Chung J.-G....Ho H.-C. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55669 HGNC: 18262 AceView: MFN1 Ensembl:ENSG00000171109 euGenes: HUgn55669
    ECgene: MFN1 H-InvDB: MFN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MFN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MFN1 gene:
    Search GeneIP for patents involving MFN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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