LOCUS       NM_139162               3236 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial elongation factor 2 (MIEF2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_139162
VERSION     NM_139162.4
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 3236)
  AUTHORS   Liu,A., Kage,F., Abdulkareem,A.F., Aguirre-Huamani,M.P., Sapp,G.,
            Aydin,H. and Higgs,H.N.
  TITLE     Fatty acyl-coenzyme A activates mitochondrial division through
            oligomerization of MiD49 and MiD51
  JOURNAL   Nat Cell Biol 26 (5), 731-744 (2024)
   PUBMED   38594588
  REMARK    GeneRIF: Fatty acyl-coenzyme A activates mitochondrial division
            through oligomerization of MiD49 and MiD51.
REFERENCE   2  (bases 1 to 3236)
  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   3  (bases 1 to 3236)
  AUTHORS   Zhao,S., Cheng,L., Shi,Y., Li,J., Yun,Q. and Yang,H.
  TITLE     MIEF2 reprograms lipid metabolism to drive progression of ovarian
            cancer through ROS/AKT/mTOR signaling pathway
  JOURNAL   Cell Death Dis 12 (1), 18 (2021)
   PUBMED   33414447
  REMARK    GeneRIF: MIEF2 reprograms lipid metabolism to drive progression of
            ovarian cancer through ROS/AKT/mTOR signaling pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3236)
  AUTHORS   Zhao,S., Zhang,X., Shi,Y., Cheng,L., Song,T., Wu,B., Li,J. and
            Yang,H.
  TITLE     MIEF2 over-expression promotes tumor growth and metastasis through
            reprogramming of glucose metabolism in ovarian cancer
  JOURNAL   J Exp Clin Cancer Res 39 (1), 286 (2020)
   PUBMED   33317572
  REMARK    GeneRIF: MIEF2 over-expression promotes tumor growth and metastasis
            through reprogramming of glucose metabolism in ovarian cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3236)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 3236)
  AUTHORS   Koirala,S., Guo,Q., Kalia,R., Bui,H.T., Eckert,D.M., Frost,A. and
            Shaw,J.M.
  TITLE     Interchangeable adaptors regulate mitochondrial dynamin assembly
            for membrane scission
  JOURNAL   Proc Natl Acad Sci U S A 110 (15), E1342-E1351 (2013)
   PUBMED   23530241
REFERENCE   7  (bases 1 to 3236)
  AUTHORS   Loson,O.C., Song,Z., Chen,H. and Chan,D.C.
  TITLE     Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in
            mitochondrial fission
  JOURNAL   Mol Biol Cell 24 (5), 659-667 (2013)
   PUBMED   23283981
  REMARK    GeneRIF: we find that either MiD49 or MiD51 can mediate Drp1
            recruitment and mitochondrial fission in the absence of Fis1 and
            Mff.
REFERENCE   8  (bases 1 to 3236)
  AUTHORS   Palmer,C.S., Osellame,L.D., Laine,D., Koutsopoulos,O.S.,
            Frazier,A.E. and Ryan,M.T.
  TITLE     MiD49 and MiD51, new components of the mitochondrial fission
            machinery
  JOURNAL   EMBO Rep 12 (6), 565-573 (2011)
   PUBMED   21508961
  REMARK    GeneRIF: MiD49/51 are new mediators of mitochondrial division
            affecting Drp1 action at mitochondria.
            GeneRIF: Mitochondrial outer membrane protein that recruits fission
            mediator Drp1 to the mitochondrial surface.
REFERENCE   9  (bases 1 to 3236)
  AUTHORS   Sarimski,K.
  TITLE     Communicative competence and behavioural phenotype in children with
            Smith-Magenis syndrome
  JOURNAL   Genet Couns 15 (3), 347-355 (2004)
   PUBMED   15517828
  REMARK    GeneRIF: Smith-Magenis syndrome is caused by a de novo deletion on
            chromosome 17.
REFERENCE   10 (bases 1 to 3236)
  AUTHORS   Bi,W., Yan,J., Stankiewicz,P., Park,S.S., Walz,K., Boerkoel,C.F.,
            Potocki,L., Shaffer,L.G., Devriendt,K., Nowaczyk,M.J., Inoue,K. and
            Lupski,J.R.
  TITLE     Genes in a refined Smith-Magenis syndrome critical deletion
            interval on chromosome 17p11.2 and the syntenic region of the mouse
  JOURNAL   Genome Res 12 (5), 713-728 (2002)
   PUBMED   11997338
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK056165.1, AC127537.8 and
            BC014973.1.
            
            On Nov 24, 2018 this sequence version replaced NM_139162.3.
            
            Summary: This gene encodes an outer mitochondrial membrane protein
            that functions in the regulation of mitochondrial morphology. It
            can directly recruit the fission mediator dynamin-related protein 1
            (Drp1) to the mitochondrial surface. The gene is located within the
            Smith-Magenis syndrome region on chromosome 17. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1.
            
            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 :: SRR1803611.216912.1,
                                           SRR1803616.190074.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000323019.9/
                                                  ENSP00000323591.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-827               AK056165.1         108-934
            828-2422            AC127537.8         38383-39977
            2423-2465           BC014973.1         2396-2438
            2466-3236           AC127537.8         40021-40791
FEATURES             Location/Qualifiers
     source          1..3236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..3236
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /note="mitochondrial elongation factor 2"
                     /db_xref="GeneID:125170"
                     /db_xref="HGNC:HGNC:17920"
                     /db_xref="MIM:615498"
     exon            1..76
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /inference="alignment:Splign:2.1.0"
     exon            77..230
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1448
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Smith-Magenis syndrome chromosomal region candidate gene 7
                     protein; mitochondrial dynamic protein of 49 kDa;
                     mitochondrial dynamic protein MID49; Smith-Magenis
                     syndrome chromosome region, candidate 7; mitochondrial
                     dynamics protein of 49 kDa; mitochondrial dynamics protein
                     MID49; DANGER family member 3B"
                     /codon_start=1
                     /product="mitochondrial dynamics protein MID49 isoform 1"
                     /protein_id="NP_631901.2"
                     /db_xref="CCDS:CCDS11193.1"
                     /db_xref="GeneID:125170"
                     /db_xref="HGNC:HGNC:17920"
                     /db_xref="MIM:615498"
                     /translation="MAEFSQKRGKRRSDEGLGSMVDFLLANARLVLGVGGAAVLGIAT
                     LAVKRFIDRATSPRDEDDTKADSWKELSLLKATPHLQPRPPPAALSQPVLPLAPSSSA
                     PEGPAETDPEVTPQLSSPAPLCLTLQERLLAFERDRVTIPAAQVALAKQLAGDIALEL
                     QAYFRSKFPELPFGAFVPGGPLYDGLQAGAADHVRLLVPLVLEPGLWSLVPGVDTVAR
                     DPRCWAVRRTQLEFCPRGSSPWDRFLVGGYLSSRVLLELLRKALAASVNWPAIGSLLG
                     CLIRPSMASEELLLEVQHERLELTVAVLVAVPGVDADDRLLLAWPLEGLAGNLWLQDL
                     YPVEAARLRALDDHDAGTRRRLLLLLCAVCRGCSALGQLGRGHLTQVVLRLGEDNVDW
                     TEEALGERFLQALELLIGSLEQASLPCHFNPSVNLFSSLREEEIDDIGYALYSGLQEP
                     EGLL"
     exon            231..393
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /inference="alignment:Splign:2.1.0"
     exon            394..3236
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2434..2439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /note="hexamer: AATAAA"
     polyA_site      2465
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /note="major polyA site"
     regulatory      3211..3216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /note="hexamer: AATAAA"
     regulatory      3216..3221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /note="hexamer: AATAAT"
     regulatory      3219..3224
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
                     /note="hexamer: AATAAT"
     polyA_site      3229
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
     polyA_site      3232
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
     polyA_site      3236
                     /gene="MIEF2"
                     /gene_synonym="COXPD49; D3B; MID49; SMCR7"
ORIGIN      
        1 attcccaggc tggtctgagc tccggggccg tggtcccgct gcctcctccg gtcgtcgtgc
       61 ggaagctgcg acgcaggcag accatggcag agttctccca gaaacggggg aagcggcgta
      121 gcgacgaagg gctgggcagc atggtggact tcctcctggc caatgcccgc ctggtgctgg
      181 gcgtgggcgg ggctgctgtg ctgggcattg ccaccctggc cgtgaagcgg ttcattgaca
      241 gggccactag cccgcgggat gaggatgaca ccaaggcaga cagctggaag gaactgagcc
      301 tgctcaaggc cacaccacac ctgcagcccc ggcctccacc tgctgccctt agccagccag
      361 tgttgccctt ggccccctcg tcgtctgccc cagaagggcc tgcagaaact gatcctgagg
      421 tgacaccaca gctcagctcc ccagcaccgc tgtgtctgac actgcaggag aggctgctgg
      481 ccttcgagcg ggaccgtgtg accatcccag cagcccaggt ggctttggcc aaacagctgg
      541 ctggcgacat cgccctggag ctgcaggcct actttcggag caagttcccg gaactgccct
      601 ttggggcatt cgtgcctggg gggccgctct acgacgggct gcaggcgggg gctgcggacc
      661 atgtgcgtct cctggtgcca ctggtgctgg agccgggcct gtggagcctg gtgccgggcg
      721 tggacactgt ggcgagggac cctcgctgct gggccgtgcg caggacgcag cttgagttct
      781 gcccccgtgg gagcagcccc tgggaccgct tcctggtcgg gggctacctc tcctcccgcg
      841 tcctgctgga gctactccgc aaggcgctgg ctgcttctgt caactggccg gccattggca
      901 gccttctcgg gtgcctgatc cggcccagca tggcctcgga ggagctgctg ctcgaggtgc
      961 agcacgaacg cctggagctc actgtggctg tgcttgtggc agtccctggg gtcgatgctg
     1021 acgaccgcct cctcttggcc tggcccctgg aggggctggc ggggaacctc tggctgcagg
     1081 acctgtatcc agtggaggct gctaggctgc gagccctgga cgaccatgac gctgggactc
     1141 gccggcggct gctgctgctg ctgtgtgctg tctgccgtgg ttgctcggct ctggggcagc
     1201 taggccgggg tcacctgacc caggtggtcc tgcgtctggg ggaggacaac gtggattgga
     1261 cggaggaggc cttgggtgag cgcttcctgc aagccctgga gctgctcatc ggcagcctgg
     1321 agcaggccag cctgccctgc cacttcaacc ccagcgtgaa cctcttcagc agcttgcgtg
     1381 aggaggagat tgacgacatt ggctatgcgc tatacagtgg cctacaggag cccgaggggc
     1441 tgctctaggt gggtggaaac gggtggttgc catgttttct aatgctgggg agctgcaccc
     1501 acctcccttc cagggatttg aatagtggtt tttctctagc tttttgccag aacaaaggag
     1561 ggtacattac ttaaacccag ggcatcagga tgtgcttggg ctatggtggc cataaaccct
     1621 gagcccagag agcttgggtc actgtcacct gagtgcagct gggctgcctc aggcagcttg
     1681 gagtgccagc cattcctgca agcaccgttt cagctcttgg ggccaacccc aggacctttg
     1741 gctctgtcca tcaccagcaa ccaatccacc aacagaatgt ggtttctgcc atcctgggca
     1801 gaagctgaag gccagcttca catttctgct gagagaaggt gacttaacgc cttttccggc
     1861 cctagctcca ggcgttttga ggcgtctggt gcctgatggt aggtatggtg tgtttgttct
     1921 gtcccccagg ggctggagtc acctggtgcc cctgaaggac agatttttgg ctgttaaagg
     1981 atggcatttt cctgctgtct tctgtgcgtt tagttttctt gctgagcggg agctcagtat
     2041 gacttgccac ccacctgata cctcagggca aggccctttt tccctccagc caggtgagtg
     2101 ttttcttcag gcagctgagg gtcctggggg agctgaggct ctgtgctgca cccccagccc
     2161 acagctgggg catctcactg gagctgttcc aggccccact ggagagcaga ggacctgatc
     2221 ccccactaga gaggtccggt gtgcacagcc ggcctcccag tgtgccaaaa tgaactgctc
     2281 tcagctgatg gctgtattct gactttgaag cctgttaaga ggtagcaagg gggctagagg
     2341 agggagattc cacctcccct cccaagtgac cctcctcctg cctctggtat ccttcctttt
     2401 gaaacgaagc tcagcttcga agatgtgaac aagaataaaa ggaaaaaatt ctaatgtata
     2461 tataactcag gctggataag ggagtcttgg tgctttcata cgcagctgtt gagggttttc
     2521 tgtaagtcct gtggcttgtc ctggcacttt ggcaagagtg cttgaggtca attggaggtg
     2581 gtagagttta ctttaaaaag tagcatcttg gccgggtgtg gtggctcgca tctgtaatcc
     2641 cagcacatcg ggaggccgag gcgggcggat cacgaggtca agagatcgag accatcctga
     2701 ccaacatgat gaaaccccaa ctctactaaa aagacaaaaa ttagctgggc gtggtggcac
     2761 gcacctatag tcccagctac tcgggaggcc gaggcaggag aattgcttga acccgggagg
     2821 tagaggttgc aatgagctga aattgcacca ctgcactcca gactggcgac agagcaagac
     2881 tctgtctcaa aaaaataaat aaataagcat cttggccccg cgctgtggct cacgcctata
     2941 atcccagcac tttgggaagc cgaggccggt agatcacctg aggttgggaa ttcaagacca
     3001 ggctgaccaa cgtggagaaa ctccatctct ggtaaaaatt caaaaaaatt agctgggcat
     3061 ggtggcacat gcctgtaatc ccagctactt gggaggctga ggcaggagaa ttgcttgaac
     3121 ccgggaggcg gaggttgtgg tgagctgaga tcgtgccagt gcactccagc ctaggcaaca
     3181 agagtgaaac tctgtctcaa aataaaataa aataaaataa taatagtaat aataaa
//
