LOCUS       NM_033540               5212 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens mitofusin 1 (MFN1), mRNA.
ACCESSION   NM_033540
VERSION     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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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  (bases 1 to 5212)
  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 (bases 1 to 5212)
  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 Nov 23, 2018 this sequence version replaced NM_033540.2.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1678              BC040557.1         18-1695
            1679-3301           AK000700.1         1526-3148
            3302-3502           AI656503.1         9-209               c
            3503-5212           AC007620.30        19736-21445
FEATURES             Location/Qualifiers
     source          1..5212
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     gene            1..5212
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="mitofusin 1"
                     /db_xref="GeneID:55669"
                     /db_xref="HGNC:HGNC:18262"
                     /db_xref="MIM:608506"
     exon            1..102
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            103..221
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..2335
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="putative transmembrane GTPase; mitochondrial
                     transmembrane GTPase FZO-2; mitochondrial transmembrane
                     GTPase Fzo-1; fzo homolog; transmembrane GTPase MFN1"
                     /codon_start=1
                     /product="mitofusin-1"
                     /protein_id="NP_284941.2"
                     /db_xref="CCDS:CCDS3228.1"
                     /db_xref="GeneID:55669"
                     /db_xref="HGNC:HGNC:18262"
                     /db_xref="MIM:608506"
                     /translation="MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPE
                     LDRIATEDDLVEMQGYKDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLP
                     SGIGHITNCFLSVEGTDGDKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRV
                     FWPKAKCALLRDDLVLVDSPGTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKH
                     FFHKVNERLSKPNIFILNNRWDASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEA
                     QNRIFFVSAKEVLSARKQKAQGMPESGVALAEGFHARLQEFQNFEQIFEECISQSAVK
                     TKFEQHTIRAKQILATVKNIMDSVNLAAEDKRHYSVEEREDQIDRLDFIRNQMNLLTL
                     DVKKKIKEVTEEVANKVSCAMTDEICRLSVLVDEFCSEFHPNPDVLKIYKSELNKHIE
                     DGMGRNLADRCTDEVNALVLQTQQEIIENLKPLLPAGIQDKLHTLIPCKKFDLSYNLN
                     YHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRNAQRVLLGLSEPIFQLPRSLASTPTAP
                     TTPATPDNASQEELMITLVTGLASVTSRTSMGIIIVGGVIWKTIGWKLLSVSLTMYGA
                     LYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSSTSANCSHQVKQQIATTFARLCQ
                     QVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAVQLENELENFTKQFLPSSNEE
                     S"
     exon            222..357
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            358..520
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            521..645
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            646..754
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            755..862
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1016
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1084
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1206
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1333
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1438
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1541
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..1771
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1924
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2121
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            2122..2256
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     exon            2257..5212
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2748..2753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="hexamer: AGTAAA"
     polyA_site      2774
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="major polyA site"
     regulatory      3209..3214
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="hexamer: ATTAAA"
     polyA_site      3240
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="major polyA site"
     regulatory      3272..3277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="hexamer: ATTAAA"
     polyA_site      3304
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
     regulatory      5186..5191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="hexamer: AATAAA"
     polyA_site      5212
                     /gene="MFN1"
                     /gene_synonym="hfzo1; hfzo2"
                     /note="major polyA site"
ORIGIN      
        1 actccccctg cctcctctcc gcctttaact tctcgggaag atgaggcagt ttggcatctg
       61 tggccgagtt gctgttgccg ggtgatagtt ggagcggaga cttagcataa tggcagaacc
      121 tgtttctcca ctgaagcact ttgtgctggc taagaaggcg attactgcaa tctttgacca
      181 gttactggag tttgttactg aaggatcaca ttttgttgaa gcaacatata agaatccgga
      241 acttgatcga atagccactg aagatgatct ggtagaaatg caaggatata aagacaagct
      301 ttccatcatt ggtgaggtgc tatctcggag acacatgaag gtggcatttt ttggcaggac
      361 aagcagtggg aagagctctg ttatcaatgc aatgttgtgg gataaagttc tccctagtgg
      421 gattggccat ataaccaatt gcttcctaag tgttgaagga actgatggag ataaagccta
      481 tcttatgaca gaaggatcag atgaaaaaaa gagtgtgaag acagttaatc aactggccca
      541 tgcccttcac atggacaaag atttgaaagc tggctgtctt gtacgtgtgt tttggccaaa
      601 agcaaaatgt gccctcttga gagatgacct ggtgttagta gacagtccag gcacagatgt
      661 cactacagag ctggatagct ggattgataa gttttgccta gatgctgatg tctttgtttt
      721 ggtcgcaaac tctgaatcaa cactaatgaa tacggaaaaa cacttttttc acaaggtgaa
      781 tgagcggctt tccaagccta atattttcat tctcaataat cgttgggatg cctctgcatc
      841 agagccagaa tatatggaag acgtacgcag acagcacatg gaaagatgcc tgcatttctt
      901 ggtggaggag ctcaaagttg taaatgcttt agaagcacag aatcgtatct tctttgtttc
      961 agcaaaggaa gttcttagtg ctagaaagca aaaagcacag gggatgccag aaagtggtgt
     1021 ggcacttgct gaaggatttc atgcaagatt acaggaattt cagaattttg aacaaatctt
     1081 tgaggagtgt atctcgcagt cagcagtgaa aacaaagttc gaacagcaca ctatcagagc
     1141 taaacagata ctagctactg tgaaaaacat aatggattca gtaaacctgg cagctgaaga
     1201 taaaaggcat tattcagtgg aagagaggga agaccaaatt gatagactgg actttattcg
     1261 aaaccagatg aaccttttaa cactggatgt taagaaaaaa atcaaggagg ttaccgagga
     1321 ggtggcaaac aaagtttcat gtgcaatgac agatgaaatt tgtcgactgt ctgttttggt
     1381 tgatgaattt tgttcagagt ttcatcctaa tccagatgta ttaaaaatat ataaaagtga
     1441 attaaataag cacatagagg atggtatggg aagaaatttg gctgatcgat gcaccgatga
     1501 agtaaacgcc ttagtgcttc agacccagca agaaattatt gaaaatttga agccattact
     1561 tccagctggt atacaggata aactacatac actgatccct tgcaagaaat ttgatctcag
     1621 ttataatcta aattaccaca agttatgttc agattttcaa gaggatattg tatttcgttt
     1681 ttccctgggc tggtcttccc ttgtacatcg atttttgggc cctagaaatg ctcaaagggt
     1741 gctcctagga ttatcagagc ctatctttca gctccctaga tctttagctt ctactcccac
     1801 tgctcctacc actccagcaa cgccagataa tgcatcacag gaagaactca tgattacatt
     1861 agtaacagga ttggcgtccg ttacatctag aacttctatg ggcatcatta ttgttggagg
     1921 agtgatttgg aaaactatag gctggaaact cctatctgtt tcattaacta tgtatggagc
     1981 tttgtatctt tatgaaagac tgagctggac cacccatgcc aaggagcgag cctttaaaca
     2041 gcagtttgta aactatgcaa ctgaaaaact gaggatgatt gttagctcca cgagtgcaaa
     2101 ctgcagtcac caagtaaaac aacaaatagc taccactttt gctcgcctgt gccaacaagt
     2161 tgatattact caaaaacagc tggaagaaga aattgctaga ttacccaaag aaatagatca
     2221 gttggagaaa atacaaaaca attcaaagct cttaagaaat aaagctgttc aacttgaaaa
     2281 tgagctggag aattttacta agcagtttct accttcaagc aatgaagaat cctaacaata
     2341 gagattgctt tggtgaccat gataggagga aacgaaactt gtaagattgg aacagttgtt
     2401 atttttatga aattacttta aatatgaatt gtactaactg tacctaaata gcaaagccct
     2461 gtgtagattc tggtaatgat ctgtctcagg gtatgtgtat ttttgaagag tgttatgtcc
     2521 ttagttttaa ttttgagtaa agaaaaggct aaaatcatga attagttaca agcaacagta
     2581 ccaacttatg tgacccctga ggggtggggc tgtgagctct taatttgttt ttgattctga
     2641 aaaactctgc ttcctggcat ccaggagtta gagattgagc ctttcatctt ctttctcaaa
     2701 actagttttt gatgctttct ttcatgggaa tagtcacttt tttatttagt aaatcgcatt
     2761 gctggaacca ccaaggagtg tggaatgtcc ttgagtgtat tatttatgca agtcacagtc
     2821 acgttgccat catggcagct atgtgaaaca ctaataaatg tgtttttact ttttattccc
     2881 gttaaaactg atgtaaaaca ggataaaggc ttgttatagt cacttataag tatctgggtc
     2941 taagtaattt ccttagatgt ttctaaagaa acattttcag ctttgctccc attatgattc
     3001 caataaggaa cgctttccta gtgcaatttt aggagtaaag tttgaagaga taaaaatagc
     3061 caaagatagg agacgtctga attttgaatg ataaacagtg atgttttaaa aaagctgttg
     3121 ttcttcagga ggcatttgcc taggatattg ctggattata ccccattgga ggcttttaat
     3181 tttatttgta tgaattttcc aggatttcat taaaaattat tattgtattt tttaccttaa
     3241 tgaaagattt tgggttcaaa tatctttcta tattaaaagc tgattgagtc tgtacatatg
     3301 taaattatgc ctagtggagg ttctgttgac tttcttcccc actgtggaag aggccagttt
     3361 tgcctccatt tgcacattca tttcagttat ttctgatcca taaatataac atttacaaaa
     3421 ttcttccttg agctggtgga aatgcctcac cagtttcctc tttaatgaat caaataaaat
     3481 ctttaactga tgttaaaaaa aattgattga aactcagatg gaatggaaat gtacaaaaat
     3541 gacaccattc taggaatttg ctagacaaaa tgtaggacta ccagatcagt atctcctaga
     3601 cacttgttag aaatgcacaa tcccggggaa cgcagtacat ttggccacat gtagtttatg
     3661 tttccttttc atgggaggga taaaatttaa agcttttttt ttctttgaat acagtccttc
     3721 cttttctatg ccttttaagg cttctagatg ctattcagcc tttttacagc aggtgcaact
     3781 ctatttttca aggtatctta gaagataaca ctaggccatt gaagcctttc aaaaatatat
     3841 ttttatgcaa attgacacga gtgcagtata ctaatgcaaa ttaattttgg tgtttagctt
     3901 ttattgctca tttataaccc aagaaatggt acagaccaca gtaagtggga ttaggtaaca
     3961 actacaacat ggaaaaacag tgtctaagat cacgtactgc taatttaggt tacaaaactc
     4021 aaggctgtaa cctttatatg aaagtactta agcttgaaag ttcataatag tttggtatca
     4081 cctcattagt atagtacagt ggttctcaaa gtttggtcct gggtcatcga cattacttct
     4141 ttttctttct gagacagggt ctcagtctgt cacccaggat ggagtgcagt ggcgtgatca
     4201 tggctcactg cagcctcaac ctctcgggtt caggtgatcc tcccacatca gcctcctggg
     4261 tggctgggac tacaggcaca cgccaccatg cctggctagt ttttgtaaag acgaggtttc
     4321 cccatgttgt gcaggctggt cttgaactca cagactcaag tgatcctttt acctcagcct
     4381 cccaaactgt tgggataaca ggtgtaagcc accacacaca gctataatca accttcaaac
     4441 ttataaaaag tgtggatcct tgggtctgaa cccagaccta tggagtcaga cagtaggttt
     4501 gaggcccagc aatctatggt ttaacaagcc atccaggtgt ttctgatgca cagtgaaatt
     4561 ggggtaccac tggtattagg tttggtatgg caactttttc atcacttgtt ttatgtagtt
     4621 gtctgatcaa ttgtgaaaac ataatgaatg ttggaaatgg aacagtaaaa taacgaaagc
     4681 caactttttt tttttttttt tttttttttg agacggagtc tcgctctgtc gcccaggctg
     4741 gagtgcagtg gcgcgatctc ggctcactgc aagctccgcc tcccgggttc acgccattct
     4801 cctgcctcag cctcccgagt agctgggact acaggcgccc gccaccacgc ccggctaatt
     4861 ttttgtattt ttagtagaga cggggtttca ccgtgttagc caggatggtc tcgatctcct
     4921 gacctcgtga tccacccgcc tcggcctccc aaagtgctgg gattacaggc gtgagccacc
     4981 gcgcccggcc gaaagccaac tcttatgcct agaaatatgt gcacctatga ccaagcccat
     5041 gaattataca ggaattatgt aattatgagt gatgtacttc aaagttattg cacatacact
     5101 tgtttacttt gtatgtttgc aggattaaac tttgtataat ctttttacaa aaattttttt
     5161 tcagtatgca agcttgcaag atgaaaataa aacctgtttg cctgatagtt ga
//
