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Q8IWA4

- MFN1_HUMAN

UniProt

Q8IWA4 - MFN1_HUMAN

Protein

Mitofusin-1

Gene

MFN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (26 Jun 2007)
      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.4 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: IntAct

    GO - Biological processi

    1. mitochondrial fusion Source: UniProtKB

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

    Protein family/group databases

    TCDBi9.B.25.2.1. the mitochondrial inner/outer membrane fusion (mmf) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitofusin-1 (EC:3.6.5.-)
    Alternative name(s):
    Fzo homolog
    Transmembrane GTPase MFN1
    Gene namesi
    Name:MFN1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:18262. MFN1.

    Subcellular locationi

    Mitochondrion outer membrane 2 Publications; Multi-pass membrane protein 2 Publications

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi88 – 881K → T: Induces a strong decrease in mitochondrial clustering. 1 Publication
    Mutagenesisi109 – 1091T → A: Acts as a dominant negative mutant; induces fragmentation of mitochondria. 1 Publication

    Organism-specific databases

    PharmGKBiPA134945973.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 741741Mitofusin-1PRO_0000127672Add
    BLAST

    Post-translational modificationi

    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.By similarity2 Publications

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    MaxQBiQ8IWA4.
    PaxDbiQ8IWA4.
    PRIDEiQ8IWA4.

    PTM databases

    PhosphoSiteiQ8IWA4.

    Expressioni

    Tissue specificityi

    Ubiquitous. Expressed at slightly higher level in kidney and heart. Isoform 2 may be overexpressed in some tumors, such as lung cancers.3 Publications

    Gene expression databases

    ArrayExpressiQ8IWA4.
    BgeeiQ8IWA4.
    CleanExiHS_MFN1.
    GenevestigatoriQ8IWA4.

    Organism-specific databases

    HPAiCAB033437.

    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 By similarity. Participates in a high molecular weight multiprotein complex. Interacts with VAT1 By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MAVSQ7Z4342EBI-1048197,EBI-995373

    Protein-protein interaction databases

    BioGridi120801. 7 interactions.
    DIPiDIP-50289N.
    IntActiQ8IWA4. 4 interactions.
    MINTiMINT-6940236.
    STRINGi9606.ENSP00000263969.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IWA4.
    SMRiQ8IWA4. Positions 674-734.
    ModBaseiSearch...
    MobiDBiSearch...

    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 – 40838Sequence AnalysisAdd
    BLAST
    Coiled coili679 – 73456Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0699.
    HOVERGENiHBG052465.
    InParanoidiQ8IWA4.
    KOiK06030.
    OMAiAMTDEIC.
    OrthoDBiEOG7HB58M.
    PhylomeDBiQ8IWA4.
    TreeFamiTF314289.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    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]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IWA4-1) [UniParc]FASTAAdd to Basket

    Also known as: TG741

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAEPVSPLKH FVLAKKAITA IFDQLLEFVT EGSHFVEATY KNPELDRIAT    50
    EDDLVEMQGY KDKLSIIGEV LSRRHMKVAF FGRTSSGKSS VINAMLWDKV 100
    LPSGIGHITN CFLSVEGTDG DKAYLMTEGS DEKKSVKTVN QLAHALHMDK 150
    DLKAGCLVRV FWPKAKCALL RDDLVLVDSP GTDVTTELDS WIDKFCLDAD 200
    VFVLVANSES TLMNTEKHFF HKVNERLSKP NIFILNNRWD ASASEPEYME 250
    DVRRQHMERC LHFLVEELKV VNALEAQNRI FFVSAKEVLS ARKQKAQGMP 300
    ESGVALAEGF HARLQEFQNF EQIFEECISQ SAVKTKFEQH TIRAKQILAT 350
    VKNIMDSVNL AAEDKRHYSV EEREDQIDRL DFIRNQMNLL TLDVKKKIKE 400
    VTEEVANKVS CAMTDEICRL SVLVDEFCSE FHPNPDVLKI YKSELNKHIE 450
    DGMGRNLADR CTDEVNALVL QTQQEIIENL KPLLPAGIQD KLHTLIPCKK 500
    FDLSYNLNYH KLCSDFQEDI VFPFSLGWSS LVHRFLGPRN AQRVLLGLSE 550
    PIFQLPRSLA STPTAPTTPA TPDNASQEEL MITLVTGLAS VTSRTSMGII 600
    IVGGVIWKTI GWKLLSVSLT MYGALYLYER LSWTTHAKER AFKQQFVNYA 650
    TEKLRMIVSS TSANCSHQVK QQIATTFARL CQQVDITQKQ LEEEIARLPK 700
    EIDQLEKIQN NSKLLRNKAV QLENELENFT KQFLPSSNEE S 741
    Length:741
    Mass (Da):84,100
    Last modified:June 26, 2007 - v2
    Checksum:iC4C1F56561D44A79
    GO
    Isoform 2 (identifier: Q8IWA4-2) [UniParc]FASTAAdd to Basket

    Also known as: TG370

    The sequence of this isoform differs from the canonical sequence as follows:
         367-370: HYSV → FHVQ
         371-741: Missing.

    Show »
    Length:370
    Mass (Da):41,883
    Checksum:i187B06EA1E971C6E
    GO
    Isoform 3 (identifier: Q8IWA4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         444-554: Missing.

    Show »
    Length:630
    Mass (Da):71,401
    Checksum:iD173A310365208BD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti17 – 171A → G in AAK06840. (PubMed:11181170)Curated
    Sequence conflicti21 – 211I → V in BAA91327. (PubMed:14702039)Curated
    Sequence conflicti162 – 1621W → C in AAB64220. (PubMed:9230308)Curated
    Sequence conflicti226 – 2261R → W in AAK06840. (PubMed:11181170)Curated
    Sequence conflicti271 – 2711V → A in AAK06840. (PubMed:11181170)Curated
    Sequence conflicti406 – 4061A → P in AAB64220. (PubMed:9230308)Curated
    Sequence conflicti688 – 6881Q → H in AAB64220. (PubMed:9230308)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti415 – 4151D → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036115
    Natural varianti523 – 5231P → R.5 Publications
    Corresponds to variant rs7637065 [ dbSNP | Ensembl ].
    VAR_018606

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei367 – 3704HYSV → FHVQ in isoform 2. 1 PublicationVSP_010362
    Alternative sequencei371 – 741371Missing in isoform 2. 1 PublicationVSP_010363Add
    BLAST
    Alternative sequencei444 – 554111Missing in isoform 3. 1 PublicationVSP_010364Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF329637 mRNA. Translation: AAK06840.1.
    AK000700 mRNA. Translation: BAA91327.1.
    AK314306 mRNA. Translation: BAG36958.1.
    AC007823 Genomic DNA. No translation available.
    AC007620 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78406.1.
    CH471052 Genomic DNA. Translation: EAW78410.1.
    CH471052 Genomic DNA. Translation: EAW78411.1.
    BC040557 mRNA. Translation: AAH40557.1.
    U95822 mRNA. Translation: AAB64220.1.
    AF054986 mRNA. Translation: AAC09347.1.
    CCDSiCCDS3228.1. [Q8IWA4-1]
    RefSeqiNP_284941.2. NM_033540.2.
    XP_005247653.2. XM_005247596.2.
    UniGeneiHs.478383.

    Genome annotation databases

    EnsembliENST00000263969; ENSP00000263969; ENSG00000171109. [Q8IWA4-1]
    ENST00000357390; ENSP00000349963; ENSG00000171109. [Q8IWA4-2]
    ENST00000471841; ENSP00000420617; ENSG00000171109. [Q8IWA4-1]
    GeneIDi55669.
    KEGGihsa:55669.
    UCSCiuc003fjs.3. human. [Q8IWA4-1]

    Polymorphism databases

    DMDMi150421594.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF329637 mRNA. Translation: AAK06840.1 .
    AK000700 mRNA. Translation: BAA91327.1 .
    AK314306 mRNA. Translation: BAG36958.1 .
    AC007823 Genomic DNA. No translation available.
    AC007620 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78406.1 .
    CH471052 Genomic DNA. Translation: EAW78410.1 .
    CH471052 Genomic DNA. Translation: EAW78411.1 .
    BC040557 mRNA. Translation: AAH40557.1 .
    U95822 mRNA. Translation: AAB64220.1 .
    AF054986 mRNA. Translation: AAC09347.1 .
    CCDSi CCDS3228.1. [Q8IWA4-1 ]
    RefSeqi NP_284941.2. NM_033540.2.
    XP_005247653.2. XM_005247596.2.
    UniGenei Hs.478383.

    3D structure databases

    ProteinModelPortali Q8IWA4.
    SMRi Q8IWA4. Positions 674-734.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120801. 7 interactions.
    DIPi DIP-50289N.
    IntActi Q8IWA4. 4 interactions.
    MINTi MINT-6940236.
    STRINGi 9606.ENSP00000263969.

    Protein family/group databases

    TCDBi 9.B.25.2.1. the mitochondrial inner/outer membrane fusion (mmf) family.

    PTM databases

    PhosphoSitei Q8IWA4.

    Polymorphism databases

    DMDMi 150421594.

    Proteomic databases

    MaxQBi Q8IWA4.
    PaxDbi Q8IWA4.
    PRIDEi Q8IWA4.

    Protocols and materials databases

    DNASUi 55669.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263969 ; ENSP00000263969 ; ENSG00000171109 . [Q8IWA4-1 ]
    ENST00000357390 ; ENSP00000349963 ; ENSG00000171109 . [Q8IWA4-2 ]
    ENST00000471841 ; ENSP00000420617 ; ENSG00000171109 . [Q8IWA4-1 ]
    GeneIDi 55669.
    KEGGi hsa:55669.
    UCSCi uc003fjs.3. human. [Q8IWA4-1 ]

    Organism-specific databases

    CTDi 55669.
    GeneCardsi GC03P179065.
    HGNCi HGNC:18262. MFN1.
    HPAi CAB033437.
    MIMi 608506. gene.
    neXtProti NX_Q8IWA4.
    PharmGKBi PA134945973.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0699.
    HOVERGENi HBG052465.
    InParanoidi Q8IWA4.
    KOi K06030.
    OMAi AMTDEIC.
    OrthoDBi EOG7HB58M.
    PhylomeDBi Q8IWA4.
    TreeFami TF314289.

    Enzyme and pathway databases

    Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

    Miscellaneous databases

    GeneWikii MFN1.
    GenomeRNAii 55669.
    NextBioi 60436.
    PROi Q8IWA4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IWA4.
    Bgeei Q8IWA4.
    CleanExi HS_MFN1.
    Genevestigatori Q8IWA4.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    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. "Control of mitochondrial morphology by a human mitofusin."
      Santel A., Fuller M.T.
      J. Cell Sci. 114:867-874(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ARG-523.
      Tissue: Heart.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-523.
      Tissue: Ileal mucosa and Trachea.
    3. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-523.
    5. "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] (ISOFORM 1), VARIANT ARG-523.
      Tissue: Testis.
    6. "Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase."
      Hales K.G., Fuller M.T.
      Cell 90:121-129(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 138-741 (ISOFORM 3).
      Tissue: Brain.
    7. Yu W., Gibbs R.A.
      Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 374-741, VARIANT ARG-523.
      Tissue: Brain.
    8. "Novel transmembrane GTPase of non-small cell lung cancer identified by mRNA differential display."
      Chung J.-G., Yeh K.-T., Wu S.-L., Hsu N.-Y., Chen G.-W., Yeh Y.-W., Ho H.-C.
      Cancer Res. 61:8873-8879(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    9. "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.
    10. "Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins."
      Legros F., Lombes A., Frachon P., Rojo M.
      Mol. Biol. Cell 13:4343-4354(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. "Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells."
      Santel A., Frank S., Gaume B., Herrler M., Youle R.J., Fuller M.T.
      J. Cell Sci. 116:2763-2774(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF LYS-88 AND THR-109.
    12. "Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1."
      Park Y.Y., Lee S., Karbowski M., Neutzner A., Youle R.J., Cho H.
      J. Cell Sci. 123:619-626(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION BY MARCH5.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission."
      Palmer C.S., Elgass K.D., Parton R.G., Osellame L.D., Stojanovski D., Ryan M.T.
      J. Biol. Chem. 288:27584-27593(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    15. Cited for: UBIQUITINATION.
    16. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-415.

    Entry informationi

    Entry nameiMFN1_HUMAN
    AccessioniPrimary (citable) accession number: Q8IWA4
    Secondary accession number(s): B2RAR1
    , D3DNR6, O15323, O60639, Q9BZB5, Q9NWQ2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 24, 2004
    Last sequence update: June 26, 2007
    Last modified: October 1, 2014
    This is version 110 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3