LOCUS       NM_002453               2536 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial translational initiation factor 2
            (MTIF2), transcript variant 2, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_002453
VERSION     NM_002453.3
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 2536)
  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   2  (bases 1 to 2536)
  AUTHORS   Xu,D., Wang,Y., Wu,J., Zhang,Z., Chen,J., Xie,M., Tang,R.,
            Cheng,C., Chen,L., Lin,S., Luo,X. and Zheng,J.
  TITLE     MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in
            hepatocellular carcinoma in vivo: Molecular mechanisms and
            therapeutic significance
  JOURNAL   Pharmacol Res 163, 105265 (2021)
   PUBMED   33129983
  REMARK    GeneRIF: MTIF2 impairs 5 fluorouracil-mediated immunogenic cell
            death in hepatocellular carcinoma in vivo: Molecular mechanisms and
            therapeutic significance.
REFERENCE   3  (bases 1 to 2536)
  AUTHORS   Gelernter,J., Kranzler,H.R., Sherva,R., Almasy,L., Koesterer,R.,
            Smith,A.H., Anton,R., Preuss,U.W., Ridinger,M., Rujescu,D.,
            Wodarz,N., Zill,P., Zhao,H. and Farrer,L.A.
  TITLE     Genome-wide association study of alcohol dependence:significant
            findings in African- and European-Americans including novel risk
            loci
  JOURNAL   Mol Psychiatry 19 (1), 41-49 (2014)
   PUBMED   24166409
  REMARK    GeneRIF: This study identified a novel GWS association (1.17 x
            10(-10)) mapped to chromosome 2 at rs1437396, between MTIF2 and
            CCDC88A, across all of the EA and AA cohorts.
REFERENCE   4  (bases 1 to 2536)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (bases 1 to 2536)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2536)
  AUTHORS   Bouwmeester,T., Bauch,A., Ruffner,H., Angrand,P.O., Bergamini,G.,
            Croughton,K., Cruciat,C., Eberhard,D., Gagneur,J., Ghidelli,S.,
            Hopf,C., Huhse,B., Mangano,R., Michon,A.M., Schirle,M., Schlegl,J.,
            Schwab,M., Stein,M.A., Bauer,A., Casari,G., Drewes,G., Gavin,A.C.,
            Jackson,D.B., Joberty,G., Neubauer,G., Rick,J., Kuster,B. and
            Superti-Furga,G.
  TITLE     A physical and functional map of the human TNF-alpha/NF-kappa B
            signal transduction pathway
  JOURNAL   Nat Cell Biol 6 (2), 97-105 (2004)
   PUBMED   14743216
  REMARK    Erratum:[Nat Cell Biol. 2004 May;6(5):465]
REFERENCE   7  (bases 1 to 2536)
  AUTHORS   Overman,R.G. Jr., Enderle,P.J., Farrow,J.M. 3rd, Wiley,J.E. and
            Farwell,M.A.
  TITLE     The human mitochondrial translation initiation factor 2 gene
            (MTIF2): transcriptional analysis and identification of a
            pseudogene
  JOURNAL   Biochim Biophys Acta 1628 (3), 195-205 (2003)
   PUBMED   12932832
REFERENCE   8  (bases 1 to 2536)
  AUTHORS   Koc,E.C. and Spremulli,L.L.
  TITLE     Identification of mammalian mitochondrial translational initiation
            factor 3 and examination of its role in initiation complex
            formation with natural mRNAs
  JOURNAL   J Biol Chem 277 (38), 35541-35549 (2002)
   PUBMED   12095986
REFERENCE   9  (bases 1 to 2536)
  AUTHORS   Bonner,D.S., Wiley,J.E. and Farwell,M.A.
  TITLE     Assignment1 of the mitochondrial translational initiation factor 2
            gene (MTIF2) to human chromosome 2 bands p16-->p14 by in situ
            hybridization and with somatic cell hybrids
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 80-81 (1998)
   PUBMED   9925935
REFERENCE   10 (bases 1 to 2536)
  AUTHORS   Ma,L. and Spremulli,L.L.
  TITLE     Cloning and sequence analysis of the human mitochondrial
            translational initiation factor 2 cDNA
  JOURNAL   J Biol Chem 270 (4), 1859-1865 (1995)
   PUBMED   7829522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB961193.1, BC064977.1,
            AF494407.1, BU684812.1 and AC012358.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002453.2.
            
            Summary: During the initiation of protein biosynthesis, initiation
            factor-2 (IF-2) promotes the binding of the initiator tRNA to the
            small subunit of the ribosome in a GTP-dependent manner.
            Prokaryotic IF-2 is a single polypeptide, while eukaryotic
            cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver
            mitochondria contain IF-2(mt), an 85-kD monomeric protein that is
            equivalent to prokaryotic IF-2. The predicted 727-amino acid human
            protein contains a 29-amino acid presequence. Human IF-2(mt) shares
            32 to 38% amino acid sequence identity with yeast IF-2(mt) and
            several prokaryotic IF-2s, with the greatest degree of conservation
            in the G domains of the proteins. [provided by RefSeq, Mar 2016].
            
            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 :: SRR1803615.53320.1,
                                           SRR1660803.9403.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000263629.9/
                                                  ENSP00000263629.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                CB961193.1         45-87
            44-1683             BC064977.1         1-1640
            1684-1964           AF494407.1         1681-1961
            1965-2511           BU684812.1         17-563              c
            2512-2536           AC012358.9         41002-41026         c
FEATURES             Location/Qualifiers
     source          1..2536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.1"
     gene            1..2536
                     /gene="MTIF2"
                     /note="mitochondrial translational initiation factor 2"
                     /db_xref="GeneID:4528"
                     /db_xref="HGNC:HGNC:7441"
                     /db_xref="MIM:603766"
     exon            1..63
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            64..225
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            226..292
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            293..518
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             300..2483
                     /gene="MTIF2"
                     /note="isoform a precursor is encoded by transcript
                     variant 2; IF-2mt; translation initiation factor IF-2,
                     mitochondrial"
                     /codon_start=1
                     /product="translation initiation factor IF-2,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_002444.2"
                     /db_xref="CCDS:CCDS1853.1"
                     /db_xref="GeneID:4528"
                     /db_xref="HGNC:HGNC:7441"
                     /db_xref="MIM:603766"
                     /translation="MNQKLLKLENLLRFHTIYRQLHSLCQRRALRQWRHGFSSAYPVW
                     TAQLCAWPWPTDVLTGAALSQYRLLVTKKEEGPWKSQLSSTKSKKVVEVWIGMTIEEL
                     ARAMEKNTDYVYEALLNTDIDIDSLEADSHLDEVWIKEVITKAGMKLKWSKLKQDKVR
                     KNKDAVRRPQADPALLTPRSPVVTIMGHVDHGKTTLLDKFRKTQVAAVETGGITQHIG
                     AFLVSLPSGEKITFLDTPGHAAFSAMRARGAQVTDIVVLVVAADDGVMKQTVESIQHA
                     KDAQVPIILAVNKCDKAEADPEKVKKELLAYDVVCEDYGGDVQAVPVSALTGDNLMAL
                     AEATVALAEMLELKADPNGPVEGTVIESFTDKGRGLVTTAIIQRGTLRKGSVLVAGKC
                     WAKVRLMFDENGKTIDEAYPSMPVGITGWRDLPSAGEEILEVESEPRAREVVDWRKYE
                     QEQEKGQEDLKIIEEKRKEHKEAHQKAREKYGHLLWKKRSILRFLERKEQIPLKPKEK
                     RERDSNVLSVIIKGDVDGSVEAILNIIDTYDASHECELELVHFGVGDVSANDVNLAET
                     FDGVIYGFNVNAGNVIQQSAAKKGVKIKLHKIIYRLVEDLQEELSSRLPCAVEEHPVG
                     EASILATFSVTEGKKKVPVAGCRVQKGQLEKQKKFKLTRNGHVIWKGSLTSLKHHKDD
                     ISIVKTGMDCGLSLDEDNMEFQVGDRIVCYEEKQIQAKTSWDPGF"
     exon            519..630
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            631..802
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            803..963
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1140
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1280
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1405
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1610
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1863
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..2004
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2005..2169
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2170..2310
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2311..2536
                     /gene="MTIF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2490..2495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTIF2"
                     /note="hexamer: ATTAAA"
     polyA_site      2511
                     /gene="MTIF2"
                     /note="major polyA site"
ORIGIN      
        1 attcttccgg gtccagaagg tgatctccgc ccgtgctcag aatccagggg cccggggctg
       61 tagattcctt gacaaggata tcctagcggc gaaacaacac cgtactggga gtcagaacgt
      121 ctgggttcta gtcttgactg ccattaacta gcggtatgac attggagaag cttttttgac
      181 ccttctggat ttccgtttcc ttttctgtaa aatgaggagc ttggaagatc cggaaaatga
      241 ggcccatagg aaacaagtga cttgctgagt ccagataaca ctgactgtca gagagaaaca
      301 tgaaccagaa gctactgaag ttggagaact tgctacgatt tcacactatt tataggcaac
      361 tgcacagtct gtgtcaaaga agagcattaa gacagtggag gcatgggttt tcatctgctt
      421 accctgtgtg gacagctcaa ctgtgtgcct ggccctggcc aacagatgtg ctcactgggg
      481 ctgctttatc tcagtatagg cttctagtaa caaaaaagga agaaggacca tggaaatctc
      541 agttatcttc aacaaaatct aaaaaggtgg tagaagtatg gattggaatg actattgagg
      601 aactggccag ggcaatggaa aaaaacacag attatgtata tgaagcttta ttgaacactg
      661 atattgacat agattcactg gaagcagact cacatttaga tgaagtctgg atcaaagaag
      721 tgataacgaa ggcagggatg aagttaaagt ggagtaaatt aaaacaggac aaagtcagaa
      781 aaaataaaga tgctgtaaga aggccccagg cagatccagc tttattaacc ccaaggtccc
      841 cagttgttac tataatgggc catgttgatc acgggaaaac gacattactt gacaaatttc
      901 gaaaaactca agtggcagca gtggaaactg gaggcatcac tcagcacatt ggtgcctttc
      961 ttgtctctct gccttctggg gaaaagataa cttttcttga tactccagga catgctgctt
     1021 tctcagcaat gagagccaga ggtgctcagg tcactgacat tgtcgtattg gttgtagctg
     1081 cagatgatgg agtgatgaaa caaactgtag aatctattca gcatgccaaa gatgcacagg
     1141 ttcctattat ccttgccgta aataaatgtg acaaagctga ggctgatcct gagaaagtga
     1201 aaaaagagct gctggcttac gatgtggtat gtgaagatta tggaggtgat gttcaagcag
     1261 tgcctgtctc cgcacttacg ggcgataatc tgatggcttt ggcagaagca acagttgctc
     1321 ttgcagaaat gttagaattg aaagcagatc ccaatggtcc agtggaagga acagtaatag
     1381 agtctttcac agacaaagga agaggtcttg ttactacagc tataattcaa agaggaactt
     1441 taagaaaagg ctctgttctg gttgctggaa aatgttgggc aaaagtacgc ttaatgtttg
     1501 atgaaaatgg aaaaacaatt gatgaggcct atcccagcat gccagtggga attacaggct
     1561 ggagagacct tccttctgca ggagaagaaa ttcttgaagt agaatctgag ccaagggcac
     1621 gtgaagttgt tgactggagg aaatatgaac aagaacagga gaaaggtcag gaggatctga
     1681 aaataataga agaaaagcga aaggaacaca aagaagcaca tcagaaagcc cgtgagaagt
     1741 atggccatct actgtggaag aagagatcaa ttctacggtt tttagaaaga aaagaacaaa
     1801 tacccttaaa gccaaaagag aaaagggaaa gagattcaaa tgtactttct gtgattatta
     1861 aaggtgatgt tgatggttct gttgaggcca ttttgaacat tatagatacc tatgatgctt
     1921 cacacgagtg tgaactagaa ttagtacatt ttggagtggg tgatgtaagt gcaaatgatg
     1981 ttaaccttgc tgaaacattt gatggtgtta tatatggctt taatgtgaat gcaggcaatg
     2041 ttatccaaca gtcagctgca aaaaaaggag taaaaattaa acttcacaaa ataatttacc
     2101 gtcttgttga agatttgcaa gaggaactga gcagcagatt accctgtgct gtggaagagc
     2161 acccagtagg tgaggcatct atactagcta ccttctctgt aacagaaggg aagaaaaaag
     2221 ttcctgtggc tggctgcaga gtccaaaagg gacagttaga aaaacaaaaa aaatttaaac
     2281 taacccgtaa tggacatgta atttggaagg gctcattaac ctcattgaaa caccataaag
     2341 atgacatttc aattgtcaaa acgggaatgg attgtggtct cagtttagat gaagacaata
     2401 tggaatttca agtgggagac agaattgttt gttatgaaga aaagcaaatt caagccaaga
     2461 cttcttggga tccaggattt taaaattaca ttaaaaatgt aaataactca acgtgttgtt
     2521 tgtttgaagg tagaaa
//
