LOCUS       NM_152912                995 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens mitochondrial translational initiation factor 3
            (MTIF3), transcript variant 2, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_152912
VERSION     NM_152912.5
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 995)
  AUTHORS   Huang,M., Coral,D., Ardalani,H., Spegel,P., Saadat,A.,
            Claussnitzer,M., Mulder,H., Franks,P.W. and Kalamajski,S.
  TITLE     Identification of a weight loss-associated causal eQTL in MTIF3 and
            the effects of MTIF3 deficiency on human adipocyte function
  JOURNAL   Elife 12, e84168 (2023)
   PUBMED   36876906
  REMARK    GeneRIF: Identification of a weight loss-associated causal eQTL in
            MTIF3 and the effects of MTIF3 deficiency on human adipocyte
            function.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 995)
  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 995)
  AUTHORS   Chicherin,I.V., Baleva,M.V., Levitskii,S.A., Dashinimaev,E.B.,
            Krasheninnikov,I.A. and Kamenski,P.
  TITLE     Initiation Factor 3 is Dispensable For Mitochondrial Translation in
            Cultured Human Cells
  JOURNAL   Sci Rep 10 (1), 7110 (2020)
   PUBMED   32346061
  REMARK    GeneRIF: Initiation Factor 3 is Dispensable For Mitochondrial
            Translation in Cultured Human Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 995)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 995)
  AUTHORS   Chicherin,I.V., Baleva,M.V., Levitskii,S.A., Dashinimaev,E.B. and
            Krasheninnikov,I.A.
  TITLE     Mitochondrial Translation Initiation Factor 3: Structure,
            Functions, Interactions, and Implication in Human Health and
            Disease
  JOURNAL   Biochemistry (Mosc) 84 (10), 1143-1150 (2019)
   PUBMED   31694510
  REMARK    GeneRIF: This is dedicated to the mitochondrial translation
            initiation factor 3 (IF3mt), which plays a key role in the protein
            synthesis in mitochondria. Involvement of IF3mt in human health and
            disease is discussed.
            Review article
REFERENCE   6  (bases 1 to 995)
  AUTHORS   Abahuni,N., Gispert,S., Bauer,P., Riess,O., Kruger,R., Becker,T.
            and Auburger,G.
  TITLE     Mitochondrial translation initiation factor 3 gene polymorphism
            associated with Parkinson's disease
  JOURNAL   Neurosci Lett 414 (2), 126-129 (2007)
   PUBMED   17267121
  REMARK    GeneRIF: the c.798C>T polymorphism of the MTIF3 gene showed allelic
            association with Parkinson's disease
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 995)
  AUTHORS   Grasso,D.G., Christian,B.E., Spencer,A. and Spremulli,L.L.
  TITLE     Overexpression and purification of mammalian mitochondrial
            translational initiation factor 2 and initiation factor 3
  JOURNAL   Methods Enzymol 430, 59-78 (2007)
   PUBMED   17913635
REFERENCE   8  (bases 1 to 995)
  AUTHORS   Bhargava,K. and Spremulli,L.L.
  TITLE     Role of the N- and C-terminal extensions on the activity of
            mammalian mitochondrial translational initiation factor 3
  JOURNAL   Nucleic Acids Res 33 (22), 7011-7018 (2005)
   PUBMED   16340009
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 995)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (bases 1 to 995)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC046166.1 and AL137059.20.
            
            On Aug 14, 2020 this sequence version replaced NM_152912.4.
            
            Summary: This gene encodes a translation initiation factor that is
            involved in mitochondrial protein synthesis. Polymorphism in this
            gene is associated with the onset of Parkinson's disease. Alternate
            splicing results in multiple transcript variants. A pseudogene of
            this gene is found on chromosome 5. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
            
            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 :: BC046166.1, BG503796.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155984 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000381120.8/
                                                  ENSP00000370512.3
            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
            1-328               BC046166.1         11-338
            329-329             AL137059.20        97649-97649
            330-854             BC046166.1         340-864
            855-855             AL137059.20        102112-102112
            856-995             BC046166.1         866-1005
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     gene            1..995
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /note="mitochondrial translational initiation factor 3"
                     /db_xref="GeneID:219402"
                     /db_xref="HGNC:HGNC:29788"
                     /db_xref="MIM:619554"
     exon            1..56
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /inference="alignment:Splign:2.1.0"
     exon            57..125
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /inference="alignment:Splign:2.1.0"
     exon            126..586
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..963
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /note="IF-3(Mt)"
                     /codon_start=1
                     /product="translation initiation factor IF-3,
                     mitochondrial"
                     /protein_id="NP_690876.3"
                     /db_xref="CCDS:CCDS9322.1"
                     /db_xref="GeneID:219402"
                     /db_xref="HGNC:HGNC:29788"
                     /db_xref="MIM:619554"
                     /translation="MAALFLKRLTLQTVKSENSCIRCFGKHILQKTAPAQLSPIASAP
                     RLSFLIHAKAFSTAEDTQNEGKKTKKNKTAFSNVGRKISQRVIHLFDEKGNDLGNMHR
                     ANVIRLMDERDLRLVQRNTSTEPAEYQLMTGLQILQERQRLREMEKANPKTGPTLRKE
                     LILSSNIGQHDLDTKTKQIQQWIKKKHLVQITIKKGKNVDVSENEMEEIFHQILQTMP
                     GIATFSSRPQAVQGGKALMCVLRAFSKNEEKAYKETQETQERDTLNKDHGNDKESNVL
                     HQ"
     exon            587..744
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /inference="alignment:Splign:2.1.0"
     exon            745..995
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /inference="alignment:Splign:2.1.0"
     regulatory      972..977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /note="hexamer: AAGAAA"
     polyA_site      995
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /note="major polyA site"
ORIGIN      
        1 gcagatccgc tgtacttgcg tccgctacag tatgtcaatc gcttgcccca gcacagctgt
       61 cattcttctc tacagaagag cttctcctca tcaactgggg atgattacag ttcttcctaa
      121 aaaaggatgg ctgctctttt tctaaagagg ttaacactac aaactgtaaa gtctgaaaat
      181 agttgcatta gatgttttgg taaacacatc ctgcaaaaga cagcaccagc acagttgtcc
      241 cctattgctt ctgccccaag actctccttc ctaattcatg caaaagcctt tagtaccgct
      301 gaagacaccc agaatgaagg aaaaaagaca aaaaagaata aaacagcttt tagtaacgtt
      361 ggaagaaaaa ttagtcagcg agttattcac ttatttgatg agaagggcaa tgatttggga
      421 aacatgcacc gagcaaatgt gattagactt atggatgagc gagacctgcg actggttcaa
      481 aggaacacca gcacagaacc tgcagagtat cagctcatga caggattgca gatcctccag
      541 gagcggcaga ggctgaggga gatggagaag gcgaacccca aaactggacc aaccctgaga
      601 aaggaactga ttttgtcttc aaatattgga caacatgatt tggacacaaa gactaaacag
      661 attcagcagt ggattaagaa aaaacaccta gtccagatta ccataaagaa aggaaaaaat
      721 gtagacgtgt cagaaaatga aatggaggag atatttcatc aaatactcca gactatgcct
      781 ggaatagcta cattctcatc taggccacaa gctgttcaag gaggaaaagc tttaatgtgt
      841 gttcttcgtg ctttcagcaa aaatgaggag aaggcatata aagaaactca agagacccag
      901 gaaagagaca ctttgaacaa agaccatgga aatgataagg aatcaaatgt tctgcatcag
      961 taattttaat aaagaaaagc atgctctgag agaaa
//
