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MFN1 Gene

protein-coding   GIFtS: 63
GCID: GC03P179065

Mitofusin 1

  Search for MFN1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for MFN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • 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 PARK21
  • Ubiquitination2 at Lys9, Lys63, Lys150, Lys229, Lys500, Lys653
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for MFN1 (Q8IWA4)
     KLLRNKA  FILNNRWD  FEECISQSAVKTKF  EKKSVKTVNQLAHALH 


    See MFN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_284941.2  
    ENSEMBL proteins: 
     ENSP00000420617   ENSP00000349963   ENSP00000419134   ENSP00000263969   ENSP00000420148  
     ENSP00000419926   ENSP00000280653  
    Reactome Protein details: Q8IWA4

    MFN1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MFN1

     
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    MFN1 Assay Products:

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    Search eBioscience for ELISAs for MFN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with MFN1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with MFN1           About GenesLikeMe


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

    Find genes that share phenotypes with MFN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mfn1tm1Dcc for MFN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MFN1
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    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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    Predesigned siRNA for gene silencing in human, mouse, rat MFN1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MFN1_HUMAN, Q8IWA4: Mitochondrion outer membrane; Multi-pass membrane protein (Probable)
    MFN1_HUMAN, Q8IWA4: Isoform 2: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MFN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MFN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production


    Find genes that share SuperPaths with MFN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MFN1
        Factors involved in megakaryocyte development and platelet production


        Pathway & Disease-focused RT2 Profiler PCR Array including MFN1: 
              Mitochondria in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MFN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MFN1 (Q8IWA41, 2, 3 ENSP000002639694) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAK1Q166112, 3, ENSP000003635914MINT-8258771 I2D: score=1 STRING: ENSP00000363591
    MAVSQ7Z4341, 2, 3, ENSP000004019804EBI-1048197,EBI-995373 MINT-7714001 MINT-7713992 I2D: score=2 STRING: ENSP00000401980
    MFN2O951402, 3, ENSP000002353294MINT-8258771 I2D: score=1 STRING: ENSP00000235329
    MARCH5Q9NX473, ENSP000003518134I2D: score=1 STRING: ENSP00000351813
    PARK2O602603, ENSP000003558654I2D: score=1 STRING: ENSP00000355865
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    Find genes that share ontologies with MFN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with MFN1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MFN1
      QuantiTect SYBR Green Assays in human, mouse, rat MFN1
      QuantiFast Probe-based Assays in human, mouse, rat MFN1

    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 

    Selected AceView cDNA sequences (see all 149):

    BM827314 BU182892 AI902954 BF222194 BM127153 AI623891 AW418886 BU150424 
    BF446140 NM_017927 CB044379 AI675611 AW291883 BC020661 BQ428225 AK000700 
    CN481819 CF540966 AW089222 AA258842 AI679339 AL046082 CK906065 NM_033540 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MFN1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             Septum   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
    MFN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MFN1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including MFN1: 
              Mitochondria in human mouse rat

    Primer
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MFN1 gene from Selected 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 86.47(n)1
    90.93(a)1
      3 (15.75 cM)5
    674141  NM_024200.41  NP_077162.21 
     325294655 
    chicken
    (Gallus gallus)
    Aves MFN11 mitofusin 1 76.3(n)
    81.28(a)
      424973  NM_001012931.2  NP_001012949.1 
    lizard
    (Anolis carolinensis)
    Reptilia MFN16
    mitofusin 1
    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)
    33(a)
    many ↔ many
    many ↔ many
    X(6259982-6264960)
    3R(19027366-19029756)
    worm
    (Caenorhabditis elegans)
    Secernentea fzo-16
    Protein FZO-1 (fzo-1) mRNA, complete cds
    32(a)
    1 → many
    II(5833328-5836203) WBGene00001509


    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)
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    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

    Find genes that share paralogs with MFN1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MFN1 (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--------
    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
    rs1386525831,2
    C--178926864(+) TTACCA/GTCCGA 1 -- us2k10--------

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MFN1
    DNA2.0 Custom Variant and Variant Library Synthesis for MFN1

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

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

    Find genes that share disorders with MFN1           About GenesLikeMe

    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)
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    PubMed articles for MFN1 gene, integrated from 10 sources (see all 62):
    (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. (J. Cell Sci. 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. (J. Cell Sci. 2003)
    3. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PubMed id 19754948)1, 4, 9 Wolf C....Weisschuh N. (BMC Med. Genet. 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. (Mol. Biol. Cell 2002)
    5. Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1. (PubMed id 20103533)1, 2, 9 Park Y.Y.... Cho H. (J. Cell Sci. 2010)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (J. Cell Sci. 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. (Cancer Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 55669 HGNC: 18262 AceView: MFN1 Ensembl:ENSG00000171109 euGenes: HUgn55669
    ECgene: MFN1 H-InvDB: MFN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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