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Q811U4

- MFN1_MOUSE

UniProt

Q811U4 - MFN1_MOUSE

Protein

Mitofusin-1

Gene

Mfn1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 3 (27 Jul 2011)
      Previous versions | rss
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    Functioni

    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.2 Publications

    Catalytic activityi

    GTP + H2O = GDP + phosphate.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi82 – 898GTPCurated
    Nucleotide bindingi178 – 1825GTPCurated
    Nucleotide bindingi237 – 2404GTPCurated

    GO - Molecular functioni

    1. GTPase activity Source: InterPro
    2. GTP binding Source: UniProtKB-KW
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. mitochondrial fusion Source: UniProtKB
    2. multicellular organismal development Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein, Hydrolase

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitofusin-1 (EC:3.6.5.-)
    Alternative name(s):
    Transmembrane GTPase MFN1
    Gene namesi
    Name:Mfn1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 3

    Organism-specific databases

    MGIiMGI:1914664. Mfn1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial outer membrane Source: UniProtKB-SubCell
    3. mitochondrion Source: MGI

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Disruption phenotypei

    In cardiomyocytes, no effect on mitochondrial morphometry or respiratory function.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 741741Mitofusin-1PRO_0000127673Add
    BLAST

    Post-translational modificationi

    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. Ubiquitinated by non-degradative ubiquitin by PARK2, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion (PubMed:24513856).1 Publication

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    MaxQBiQ811U4.
    PaxDbiQ811U4.
    PRIDEiQ811U4.

    PTM databases

    PhosphoSiteiQ811U4.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Developmental stagei

    Expressed in E8.5, E9.5, E10.5 and E11.5 embryos.1 Publication

    Gene expression databases

    ArrayExpressiQ811U4.
    BgeeiQ811U4.
    CleanExiMM_MFN1.
    GenevestigatoriQ811U4.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    LRRK2Q5S0073EBI-9029118,EBI-5323863From a different organism.

    Protein-protein interaction databases

    BioGridi212170. 2 interactions.
    DIPiDIP-60969N.
    IntActiQ811U4. 1 interaction.

    Structurei

    Secondary structure

    1
    741
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi676 – 73358

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1T3JX-ray2.50A660-735[»]
    ProteinModelPortaliQ811U4.
    SMRiQ811U4. Positions 674-735.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ811U4.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 584584CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini606 – 6083Mitochondrial intermembraneSequence Analysis
    Topological domaini630 – 741112CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei585 – 60521Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei609 – 62921Helical; Name=2Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini72 – 321250Dynamin-type GAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili371 – 408381 PublicationAdd
    BLAST
    Coiled coili677 – 735591 PublicationAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0699.
    GeneTreeiENSGT00390000013727.
    HOVERGENiHBG052465.
    InParanoidiQ3URC4.
    KOiK06030.
    OMAiAMTDEIC.
    OrthoDBiEOG7HB58M.
    TreeFamiTF314289.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR001401. Dynamin_GTPase.
    IPR006884. Fzo/mitofusin_HR2.
    IPR027088. Mitofusin-1.
    IPR027094. Mitofusin_fam.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PANTHERiPTHR10465. PTHR10465. 1 hit.
    PTHR10465:SF2. PTHR10465:SF2. 1 hit.
    PfamiPF00350. Dynamin_N. 1 hit.
    PF04799. Fzo_mitofusin. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS51718. G_DYNAMIN_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q811U4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAETVSPLKH FVLAKKAITA IFGQLLEFVT EGSHFVEATY RNPELDRIAS    50
    EDDLVEIQGY RNKLAVIGEV LSRRHMKVAF FGRTSSGKSS VINAMLWDKV 100
    LPSGIGHTTN CFLSVEGTDG DKAYLMTEGS DEKKSVKTVN QLAHALHMDK 150
    DLKAGCLVHV FWPKAKCALL RDDLVLVDSP GTDVTTELDI WIDKFCLDAD 200
    VFVLVANSES TLMNTEKHFF HKVNERLSKP NIFILNNRWD ASASEPEYME 250
    DVRRQHMERC LHFLVEELKV VSPSEARNRI FFVSAKEVLN SRKHKAQGMP 300
    EGGGALAEGF QARLQEFQNF EQTFEECISQ SAVKTKFEQH TIRAKQILDT 350
    VKNILDSVNV AAAEKRVYSM EEREDQIDRL DFIRNQMNLL TLDVKKKIKE 400
    VTEEVANKVS CAMTDEICRL SVLVDEFCSE FHPTPSVLKV YKSELNKHIE 450
    DGMGRNLADR CTNEVNASIL QSQQEIIENL KPLLPAGIQN KLHTLIPCKK 500
    FDLSYDLNCH KLCSDFQEDI VFRFSLGWSS LVHRFLGSTN AQRVLLGLSE 550
    PIFQVPRSLA STPTAPSNPA APDNAAQEEL MITLITGLAS LTSRTSMGII 600
    VVGGVIWKTV GWKLISVTLS MYGALYLYER LTWTTRAKER AFKQQFVNYA 650
    TEKLQMIVSF TSANCSHQVQ QEMATTFARL CQQVDVTQKH LEEEIARLSK 700
    EIDQLEKIQN NSKLLRNKAV QLESELENFS KQFLHPSSGE S 741
    Length:741
    Mass (Da):83,726
    Last modified:July 27, 2011 - v3
    Checksum:i36E5E90DB0C0D5A1
    GO

    Sequence cautioni

    The sequence AAH47050.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAC25260.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti209 – 2091E → G in BAB31111. (PubMed:16141072)Curated
    Sequence conflicti328 – 3292IS → VL in BAB31111. (PubMed:16141072)Curated
    Sequence conflicti335 – 3351T → A in BAB31111. (PubMed:16141072)Curated
    Sequence conflicti521 – 5211V → A in BAB31111. (PubMed:16141072)Curated
    Sequence conflicti588 – 5881L → W in BAB31111. (PubMed:16141072)Curated
    Sequence conflicti619 – 6191L → S in BAB31111. (PubMed:16141072)Curated
    Sequence conflicti718 – 7181K → R in BAB31111. (PubMed:16141072)Curated
    Sequence conflicti720 – 7201V → I in AAH02133. (PubMed:15489334)Curated
    Sequence conflicti720 – 7201V → I in AAH56641. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY174062 mRNA. Translation: AAO34660.1.
    AK009490 mRNA. Translation: BAC25260.1. Different initiation.
    AK018181 mRNA. Translation: BAB31111.1.
    AK141611 mRNA. Translation: BAE24764.1.
    BC002133 mRNA. Translation: AAH02133.1.
    BC047050 mRNA. Translation: AAH47050.1. Different initiation.
    BC056641 mRNA. Translation: AAH56641.1.
    CCDSiCCDS17296.1.
    RefSeqiNP_077162.2. NM_024200.4.
    UniGeneiMm.290414.

    Genome annotation databases

    EnsembliENSMUST00000091257; ENSMUSP00000088801; ENSMUSG00000027668.
    ENSMUST00000118286; ENSMUSP00000113251; ENSMUSG00000027668.
    GeneIDi67414.
    KEGGimmu:67414.
    UCSCiuc008owi.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY174062 mRNA. Translation: AAO34660.1 .
    AK009490 mRNA. Translation: BAC25260.1 . Different initiation.
    AK018181 mRNA. Translation: BAB31111.1 .
    AK141611 mRNA. Translation: BAE24764.1 .
    BC002133 mRNA. Translation: AAH02133.1 .
    BC047050 mRNA. Translation: AAH47050.1 . Different initiation.
    BC056641 mRNA. Translation: AAH56641.1 .
    CCDSi CCDS17296.1.
    RefSeqi NP_077162.2. NM_024200.4.
    UniGenei Mm.290414.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1T3J X-ray 2.50 A 660-735 [» ]
    ProteinModelPortali Q811U4.
    SMRi Q811U4. Positions 674-735.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 212170. 2 interactions.
    DIPi DIP-60969N.
    IntActi Q811U4. 1 interaction.

    PTM databases

    PhosphoSitei Q811U4.

    Proteomic databases

    MaxQBi Q811U4.
    PaxDbi Q811U4.
    PRIDEi Q811U4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000091257 ; ENSMUSP00000088801 ; ENSMUSG00000027668 .
    ENSMUST00000118286 ; ENSMUSP00000113251 ; ENSMUSG00000027668 .
    GeneIDi 67414.
    KEGGi mmu:67414.
    UCSCi uc008owi.2. mouse.

    Organism-specific databases

    CTDi 55669.
    MGIi MGI:1914664. Mfn1.

    Phylogenomic databases

    eggNOGi COG0699.
    GeneTreei ENSGT00390000013727.
    HOVERGENi HBG052465.
    InParanoidi Q3URC4.
    KOi K06030.
    OMAi AMTDEIC.
    OrthoDBi EOG7HB58M.
    TreeFami TF314289.

    Miscellaneous databases

    ChiTaRSi MFN1. mouse.
    EvolutionaryTracei Q811U4.
    NextBioi 324498.
    PROi Q811U4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q811U4.
    Bgeei Q811U4.
    CleanExi MM_MFN1.
    Genevestigatori Q811U4.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR001401. Dynamin_GTPase.
    IPR006884. Fzo/mitofusin_HR2.
    IPR027088. Mitofusin-1.
    IPR027094. Mitofusin_fam.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    PANTHERi PTHR10465. PTHR10465. 1 hit.
    PTHR10465:SF2. PTHR10465:SF2. 1 hit.
    Pfami PF00350. Dynamin_N. 1 hit.
    PF04799. Fzo_mitofusin. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS51718. G_DYNAMIN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development."
      Chen H., Detmer S.A., Ewald A.J., Griffin E.E., Fraser S.E., Chan D.C.
      J. Cell Biol. 160:189-200(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DEVELOPMENTAL STAGE, MULTIMERIZATION.
      Strain: FVB.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Hippocampus, Medulla oblongata and Tongue.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: FVB/N.
      Tissue: Liver and Mammary tumor.
    4. "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo."
      Rojo M., Legros F., Chateau D., Lombes A.
      J. Cell Sci. 115:1663-1674(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    5. "PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria."
      Chen Y., Dorn G.W. II
      Science 340:471-475(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISRUPTION PHENOTYPE.
    6. "A small natural molecule promotes mitochondrial fusion through inhibition of the deubiquitinase USP30."
      Yue W., Chen Z., Liu H., Yan C., Chen M., Feng D., Yan C., Wu H., Du L., Wang Y., Liu J., Huang X., Xia L., Liu L., Wang X., Jin H., Wang J., Song Z., Hao X., Chen Q.
      Cell Res. 24:482-496(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION, DEUBIQUITINATION.
    7. "Structural basis of mitochondrial tethering by mitofusin complexes."
      Koshiba T., Detmer S.A., Kaiser J.T., Chen H., McCaffery J.M., Chan D.C.
      Science 305:858-862(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 660-735, FUNCTION, SUBUNIT, COILED-COIL DOMAINS.

    Entry informationi

    Entry nameiMFN1_MOUSE
    AccessioniPrimary (citable) accession number: Q811U4
    Secondary accession number(s): Q3URC4
    , Q811D5, Q8CEY6, Q99M10, Q9D395
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 24, 2004
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 102 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Miscellaneous

    MFN1 deficient mice die early during embryonic development, due to altered mitochondria morphology, which are fragmented, showing that mitochondrial fusion is essential for embryonic development.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3