LOCUS       NP_284941                741 aa            linear   PRI 11-FEB-2025
DEFINITION  mitofusin-1 [Homo sapiens].
ACCESSION   NP_284941
VERSION     NP_284941.2
DBSOURCE    REFSEQ: accession NM_033540.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 741)
  AUTHORS   Kirmizigul,O.A., Sabanci,A., Disli,F., Yildiz,S., Milward,M.R. and
            Aral,K.
  TITLE     Evaluation of the role of mitofusin-1 and mitofusin-2 in
            periodontal disease
  JOURNAL   J Periodontol 95 (1), 64-73 (2024)
   PUBMED   37436713
  REMARK    GeneRIF: Evaluation of the role of mitofusin-1 and mitofusin-2 in
            periodontal disease.
REFERENCE   2  (residues 1 to 741)
  AUTHORS   Khalil,R., Mossa,H. and Jwad,M.
  TITLE     MITOFUSIN 1 AS A MARKER FOR EMBRYO QUALITY AND DEVELOPMENT IN
            RELEVANCE TO ICSI OUTCOME IN INFERTILE FEMALES
  JOURNAL   Georgian Med News (345), 58-61 (2023)
   PUBMED   38325299
  REMARK    GeneRIF: MITOFUSIN 1 AS A MARKER FOR EMBRYO QUALITY AND DEVELOPMENT
            IN RELEVANCE TO ICSI OUTCOME IN INFERTILE FEMALES.
REFERENCE   3  (residues 1 to 741)
  AUTHORS   Stavropoulos,F., Georgiou,E., Schiza,N., Bell,S., Baloh,R.H.,
            Kleopa,K.A. and Sargiannidou,I.
  TITLE     Mitofusin 1 overexpression rescues the abnormal mitochondrial
            dynamics caused by the Mitofusin 2 K357T mutation in vitro
  JOURNAL   J Peripher Nerv Syst 28 (3), 329-340 (2023)
   PUBMED   37220142
  REMARK    GeneRIF: Mitofusin 1 overexpression rescues the abnormal
            mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in
            vitro.
REFERENCE   4  (residues 1 to 741)
  AUTHORS   Liu,G., Yin,C., Qian,M., Xiao,X., Wu,H. and Fu,F.
  TITLE     LncRNA gadd7 promotes mitochondrial membrane potential decrease and
            apoptosis of alveolar type II epithelial cells by positively
            regulating MFN1 in an in vitro model of hyperoxia-induced acute
            lung injury
  JOURNAL   Eur J Histochem 67 (2), 3535 (2023)
   PUBMED   37254890
  REMARK    GeneRIF: LncRNA gadd7 promotes mitochondrial membrane potential
            decrease and apoptosis of alveolar type II epithelial cells by
            positively regulating MFN1 in an in vitro model of
            hyperoxia-induced acute lung injury.
            Erratum:[Eur J Histochem. 2024 May 07;68(2). doi:
            10.4081/ejh.2024.4058.. PMID: 38713031]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 741)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   6  (residues 1 to 741)
  AUTHORS   Legros,F., Lombes,A., Frachon,P. and Rojo,M.
  TITLE     Mitochondrial fusion in human cells is efficient, requires the
            inner membrane potential, and is mediated by mitofusins
  JOURNAL   Mol Biol Cell 13 (12), 4343-4354 (2002)
   PUBMED   12475957
  REMARK    GeneRIF: Mfn1 mediates mitochondrial fusion in human cells
REFERENCE   7  (residues 1 to 741)
  AUTHORS   Rojo,M., Legros,F., Chateau,D. and Lombes,A.
  TITLE     Membrane topology and mitochondrial targeting of mitofusins,
            ubiquitous mammalian homologs of the transmembrane GTPase Fzo
  JOURNAL   J Cell Sci 115 (Pt 8), 1663-1674 (2002)
   PUBMED   11950885
  REMARK    GeneRIF: Results show that Fzo homologs mitofusin 1 and 2 are
            ubiquitous mitochondrial membrane proteins that interact with each
            other to facilitate mitochondrial targeting.
REFERENCE   8  (residues 1 to 741)
  AUTHORS   Chung,J.G., Yeh,K.T., Wu,S.L., Hsu,N.Y., Chen,G.W., Yeh,Y.W. and
            Ho,H.C.
  TITLE     Novel transmembrane GTPase of non-small cell lung cancer identified
            by mRNA differential display
  JOURNAL   Cancer Res 61 (24), 8873-8879 (2001)
   PUBMED   11751411
REFERENCE   9  (residues 1 to 741)
  AUTHORS   Santel,A. and Fuller,M.T.
  TITLE     Control of mitochondrial morphology by a human mitofusin
  JOURNAL   J Cell Sci 114 (Pt 5), 867-874 (2001)
   PUBMED   11181170
REFERENCE   10 (residues 1 to 741)
  AUTHORS   Hales,K.G. and Fuller,M.T.
  TITLE     Developmentally regulated mitochondrial fusion mediated by a
            conserved, novel, predicted GTPase
  JOURNAL   Cell 90 (1), 121-129 (1997)
   PUBMED   9230308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC040557.1, AK000700.1,
            AI656503.1 and AC007620.30.
            
            On Mar 9, 2004 this sequence version replaced NP_284941.1.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.148873.1,
                                           SRR1660805.96422.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000471841.6/
                                                  ENSP00000420617.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     Protein         1..741
                     /product="mitofusin-1"
                     /note="putative transmembrane GTPase; mitochondrial
                     transmembrane GTPase FZO-2; mitochondrial transmembrane
                     GTPase Fzo-1; fzo homolog; transmembrane GTPase MFN1"
                     /calculated_mol_wt=84029
     Region          9..73
                     /region_name="Part of a helix bundle domain, formed by
                     helices from N-terminal and C-terminal regions.
                     /evidence=ECO:0000269|PubMed:16959974,
                     ECO:0000269|PubMed:28114303"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Region          76..328
                     /region_name="DLP_2"
                     /note="Dynamin-like protein including dynamins,
                     mitofusins, and guanylate-binding proteins; cd09912"
                     /db_xref="CDD:206739"
     Region          82..89
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Site            82..89
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206739"
     Site            order(84..90,181,237..238,240,284..286)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206739"
     Region          108..109
                     /region_name="G2 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Site            109
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206739"
     Site            111..113
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206739"
     Region          178..181
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Site            178..181
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206739"
     Site            order(180..181,200..201)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206739"
     Region          237..240
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Site            237..240
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206739"
     Region          266
                     /region_name="G5 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Site            284..286
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206739"
     Region          338..364
                     /region_name="Part of a helix bundle domain, formed by
                     helices from N-terminal and C-terminal regions.
                     /evidence=ECO:0000269|PubMed:16959974,
                     ECO:0000269|PubMed:28114303"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Region          577..735
                     /region_name="Fzo_mitofusin"
                     /note="fzo-like conserved region; pfam04799"
                     /db_xref="CDD:461432"
     Site            585..605
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Site            609..629
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     Region          703..734
                     /region_name="Part of a helix bundle domain, formed by
                     helices from N-terminal and C-terminal regions.
                     /evidence=ECO:0000269|PubMed:16959974,
                     ECO:0000269|PubMed:28114303"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA4.3)"
     CDS             1..741
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /coded_by="NM_033540.3:110..2335"
                     /db_xref="CCDS:CCDS3228.1"
                     /db_xref="GeneID:55669"
                     /db_xref="HGNC:HGNC:18262"
                     /db_xref="MIM:608506"
ORIGIN      
        1 maepvsplkh fvlakkaita ifdqllefvt egshfveaty knpeldriat eddlvemqgy
       61 kdklsiigev lsrrhmkvaf fgrtssgkss vinamlwdkv lpsgighitn cflsvegtdg
      121 dkaylmtegs dekksvktvn qlahalhmdk dlkagclvrv fwpkakcall rddlvlvdsp
      181 gtdvttelds widkfcldad vfvlvanses tlmntekhff hkvnerlskp nifilnnrwd
      241 asasepeyme dvrrqhmerc lhflveelkv vnaleaqnri ffvsakevls arkqkaqgmp
      301 esgvalaegf harlqefqnf eqifeecisq savktkfeqh tirakqilat vknimdsvnl
      361 aaedkrhysv eeredqidrl dfirnqmnll tldvkkkike vteevankvs camtdeicrl
      421 svlvdefcse fhpnpdvlki ykselnkhie dgmgrnladr ctdevnalvl qtqqeiienl
      481 kpllpagiqd klhtlipckk fdlsynlnyh klcsdfqedi vfrfslgwss lvhrflgprn
      541 aqrvllglse pifqlprsla stptapttpa tpdnasqeel mitlvtglas vtsrtsmgii
      601 ivggviwkti gwkllsvslt mygalylyer lswtthaker afkqqfvnya teklrmivss
      661 tsancshqvk qqiattfarl cqqvditqkq leeeiarlpk eidqlekiqn nskllrnkav
      721 qlenelenft kqflpssnee s
//
