LOCUS       NM_001277062            1921 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial fission factor (MFF), transcript variant
            3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001277062
VERSION     NM_001277062.2
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 1921)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 1921)
  AUTHORS   Shamseldin,H.E., Alhashem,A., Tabarki,B., Abdulwahab,F., Hashem,M.,
            Sougrat,R. and Alkuraya,F.S.
  TITLE     Mitochondrial 'dysmorphology' in variant classification
  JOURNAL   Hum Genet 141 (1), 55-64 (2022)
   PUBMED   34750646
  REMARK    GeneRIF: Mitochondrial ''dysmorphology'' in variant classification.
REFERENCE   3  (bases 1 to 1921)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1921)
  AUTHORS   Liu,A., Kage,F. and Higgs,H.N.
  TITLE     Mff oligomerization is required for Drp1 activation and synergy
            with actin filaments during mitochondrial division
  JOURNAL   Mol Biol Cell 32 (20), ar5 (2021)
   PUBMED   34347505
  REMARK    GeneRIF: Mff oligomerization is required for Drp1 activation and
            synergy with actin filaments during mitochondrial division.
REFERENCE   5  (bases 1 to 1921)
  AUTHORS   Wu,K., Mao,Y.Y., Chen,Q., Zhang,B., Zhang,S., Wu,H.J. and Li,Y.
  TITLE     Hypoxia-induced ROS promotes mitochondrial fission and cisplatin
            chemosensitivity via HIF-1alpha/Mff regulation in head and neck
            squamous cell carcinoma
  JOURNAL   Cell Oncol (Dordr) 44 (5), 1167-1181 (2021)
   PUBMED   34460078
  REMARK    GeneRIF: Hypoxia-induced ROS promotes mitochondrial fission and
            cisplatin chemosensitivity via HIF-1alpha/Mff regulation in head
            and neck squamous cell carcinoma.
REFERENCE   6  (bases 1 to 1921)
  AUTHORS   Johnson,C., Tinti,M., Wood,N.T., Campbell,D.G., Toth,R., Dubois,F.,
            Geraghty,K.M., Wong,B.H., Brown,L.J., Tyler,J., Gernez,A., Chen,S.,
            Synowsky,S. and MacKintosh,C.
  TITLE     Visualization and biochemical analyses of the emerging mammalian
            14-3-3-phosphoproteome
  JOURNAL   Mol Cell Proteomics 10 (10), M110.005751 (2011)
   PUBMED   21725060
REFERENCE   7  (bases 1 to 1921)
  AUTHORS   Zhao,J., Liu,T., Jin,S., Wang,X., Qu,M., Uhlen,P., Tomilin,N.,
            Shupliakov,O., Lendahl,U. and Nister,M.
  TITLE     Human MIEF1 recruits Drp1 to mitochondrial outer membranes and
            promotes mitochondrial fusion rather than fission
  JOURNAL   EMBO J 30 (14), 2762-2778 (2011)
   PUBMED   21701560
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1921)
  AUTHORS   Igci,Y.Z., Arslan,A., Akarsu,E., Erkilic,S., Igci,M., Oztuzcu,S.,
            Cengiz,B., Gogebakan,B., Cakmak,E.A. and Demiryurek,A.T.
  TITLE     Differential expression of a set of genes in follicular and classic
            variants of papillary thyroid carcinoma
  JOURNAL   Endocr Pathol 22 (2), 86-96 (2011)
   PUBMED   21509594
  REMARK    GeneRIF: MFF gene expression is decreased in both classic and
            follicular variants of papillary thyroid carcinoma.
REFERENCE   9  (bases 1 to 1921)
  AUTHORS   Otera,H., Wang,C., Cleland,M.M., Setoguchi,K., Yokota,S.,
            Youle,R.J. and Mihara,K.
  TITLE     Mff is an essential factor for mitochondrial recruitment of Drp1
            during mitochondrial fission in mammalian cells
  JOURNAL   J Cell Biol 191 (6), 1141-1158 (2010)
   PUBMED   21149567
REFERENCE   10 (bases 1 to 1921)
  AUTHORS   Gandre-Babbe,S. and van der Bliek,A.M.
  TITLE     The novel tail-anchored membrane protein Mff controls mitochondrial
            and peroxisomal fission in mammalian cells
  JOURNAL   Mol Biol Cell 19 (6), 2402-2412 (2008)
   PUBMED   18353969
  REMARK    GeneRIF: Mff is a novel component of a conserved membrane fission
            pathway used for constitutive and induced fission of mitochondria
            and peroxisomes.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097662.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001277062.1.
            
            Summary: This is a nuclear gene encoding a protein that functions
            in mitochondrial and peroxisomal fission. The encoded protein
            recruits dynamin-1-like protein (DNM1L) to mitochondria. There are
            multiple pseudogenes for this gene on chromosomes 1, 5, and X.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2013].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region and an lacks an in-frame exon,
            compared to variant 1. It initiates translation at a downstream
            in-frame start codon. The encoded isoform (b) is shorter and has a
            shorter N-terminus than isoform a.
            
            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 :: SRR1803612.248203.1,
                                           SRR1803612.140111.1 [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. :: PMID: 18353969
            MANE Ensembl match                 :: ENST00000304593.14/
                                                  ENSP00000304898.10
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-177               AC097662.5         54341-54517
            178-289             AC097662.5         57768-57879
            290-510             AC097662.5         59716-59936
            511-680             AC097662.5         61509-61678
            681-769             AC097662.5         69382-69470
            770-928             AC097662.5         76316-76474
            929-988             AC097662.5         81604-81663
            989-1073            AC097662.5         84767-84851
            1074-1921           AC097662.5         86076-86923
FEATURES             Location/Qualifiers
     source          1..1921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     gene            1..1921
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /note="mitochondrial fission factor"
                     /db_xref="GeneID:56947"
                     /db_xref="HGNC:HGNC:24858"
                     /db_xref="MIM:614785"
     exon            1..177
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     exon            178..289
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     exon            290..510
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     CDS             330..1205
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /note="isoform b is encoded by transcript variant 3"
                     /codon_start=1
                     /product="mitochondrial fission factor isoform b"
                     /protein_id="NP_001263991.1"
                     /db_xref="CCDS:CCDS63140.1"
                     /db_xref="GeneID:56947"
                     /db_xref="HGNC:HGNC:24858"
                     /db_xref="MIM:614785"
                     /translation="MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGV
                     PNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLD
                     FLDLERPPTTPQNEEIRAVGRLKRERSMSENAVRQNGQLVRNDSLVTPSPQQARVCPP
                     HMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRPVLRGGSAAATSNPHHDN
                     VRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSI
                     TVAFWLLNSWLWFRR"
     exon            511..680
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     exon            681..769
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     exon            770..928
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     exon            929..988
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1073
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1921
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1249..1254
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /note="hexamer: TATAAA"
     polyA_site      1269
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /note="major polyA site"
     regulatory      1901..1906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /note="hexamer: AATAAA"
     polyA_site      1921
                     /gene="MFF"
                     /gene_synonym="C2orf33; EMPF2; GL004"
                     /note="major polyA site"
ORIGIN      
        1 agaaggggcc agcccgcgcc tttcgcgctt ctgccctggc cctctgcggg ccgctccgcc
       61 ggtgctgtcc ctgggcgcct ccgtgctctc agccaaccac ctctgagagc gcccactcga
      121 gcgccccggg agccagaggg cgggggtcct cgccgggacc ctcctgtggg cccaggggga
      181 caaaagtggc tctcaatcca gcacatgcac attgaagcaa gttaaaggat ttaatatgaa
      241 gcacagaagc agatagtgcc aaatagcaag cagtagttgt tacacatttg gtgagcaggg
      301 cagcatttcc ttctcccact gctgctgaga tggcagaaat tagtcgaatt cagtacgaaa
      361 tggaatatac tgaaggcatt agtcagcgaa tgagggtccc agaaaagtta aaagtagcac
      421 cgccaaacgc tgacctggaa caaggattcc aagaaggagt tccaaatgct agtgtgataa
      481 tgcaagttcc ggagaggatt gttgtagcag gaaataatga agatgtttca ttttcaagac
      541 cagcagatct tgaccttatt cagtcaactc cctttaaacc cctggcactg aaaacaccac
      601 ctcgtgtact tacgctgagt gaaagaccac tagattttct ggatttagaa agacctccta
      661 caacccctca aaatgaagaa atccgagcag ttggcagact aaaaagagag cggtctatga
      721 gtgaaaatgc tgttcgccaa aatggacagc tggtcagaaa tgattctctt gtgacaccat
      781 cgccacaaca ggctcgggtc tgtcctcccc atatgttacc tgaagatgga gctaatcttt
      841 cctctgctcg tggcattttg tcgcttatcc agtcttctac tcgtagggca taccagcaga
      901 tcttggatgt gctggatgaa aatcgcagac ctgtgttgcg tggtgggtct gctgccgcca
      961 cttctaatcc tcatcatgac aacgtcaggt atggcatttc aaatatagat acaaccattg
     1021 aaggaacgtc agatgacctg actgttgtag atgcagcttc actaagacga cagataatca
     1081 aactaaatag acgtctacaa cttctggaag aggagaacaa agaacgtgct aaaagagaaa
     1141 tggtcatgta ttcaattact gtagctttct ggctgcttaa tagctggctc tggtttcgcc
     1201 gctagaggta acatcagccc tcaaaaatac tgtctcaaca gctggaaata taaaagattt
     1261 gcaaacttct ttgtttctgt ctctgcattg tatgccattt tatagtccac accctgaaaa
     1321 tgtatttctt ccagaaagtc tggaggaagg acctatattt gtagaagtaa aggtatattc
     1381 tgtcactcag ctgtattcac gtctgagcag ttctgcagta acacctgctt aaaattctcc
     1441 ctttgcatgt tttgtaaata ggctccagtt ttgtttttta aaaggaattt attttttgcc
     1501 tcatcagtcc acccaactga ttctgaatgg gagagagtct gtagagaatt gattcagaaa
     1561 agtgtctgtg aaagaaaaac aattattttg tcctgtttct caaacagtgt taagcagttt
     1621 tgttaataga catttttgca tcgacacttc aacattaaca ctttcaaagt catggtctgg
     1681 tgccagattt aagaaactcg aaccacctaa tatttcataa ccttcttcat taggtacttg
     1741 tacagattaa tttctaacat tgcagcagtt tcatatgtgt gcaatatgtg cattctttca
     1801 ttttagtttt gcacttggtt ttctataaag tacgttttta ctcagttcat gcgtgaacaa
     1861 tttaaaaaac gacagaataa ggtacaaatg tagtgtattt aataaactgt caaccaaaga
     1921 a
//
