LOCUS       NM_006839               2689 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens inner membrane mitochondrial protein (IMMT),
            transcript variant 1, mRNA.
ACCESSION   NM_006839
VERSION     NM_006839.3
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 2689)
  AUTHORS   Liu,L., Zhao,Q., Xiong,D., Li,D., Du,J., Huang,Y., Yang,Y. and
            Chen,R.
  TITLE     Suppressing mitochondrial inner membrane protein (IMMT) inhibits
            the proliferation of breast cancer cells through mitochondrial
            remodeling and metabolic regulation
  JOURNAL   Sci Rep 14 (1), 12766 (2024)
   PUBMED   38834715
  REMARK    GeneRIF: Suppressing mitochondrial inner membrane protein (IMMT)
            inhibits the proliferation of breast cancer cells through
            mitochondrial remodeling and metabolic regulation.
            Erratum:[Sci Rep. 2024 Oct 25;14(1):25389. doi:
            10.1038/s41598-024-74030-2.. PMID: 39455609]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2689)
  AUTHORS   Miller,B., Kim,S.J., Mehta,H.H., Cao,K., Kumagai,H., Thumaty,N.,
            Leelaprachakul,N., Braniff,R.G., Jiao,H., Vaughan,J., Diedrich,J.,
            Saghatelian,A., Arpawong,T.E., Crimmins,E.M., Ertekin-Taner,N.,
            Tubi,M.A., Hare,E.T., Braskie,M.N., Decarie-Spain,L., Kanoski,S.E.,
            Grodstein,F., Bennett,D.A., Zhao,L., Toga,A.W., Wan,J., Yen,K. and
            Cohen,P.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative*
  TITLE     Mitochondrial DNA variation in Alzheimer's disease reveals a unique
            microprotein called SHMOOSE
  JOURNAL   Mol Psychiatry 28 (4), 1813-1826 (2023)
   PUBMED   36127429
  REMARK    Erratum:[Mol Psychiatry. 2023 Apr;28(4):1827. doi:
            10.1038/s41380-023-01956-w.. PMID: 36658336]
REFERENCE   3  (bases 1 to 2689)
  AUTHORS   Marco-Hernandez,A.V., Tomas-Vila,M., Montoya-Filardi,A.,
            Barranco-Gonzalez,H., Vilchez Padilla,J.J., Azorin,I., Smeyers
            Dura,P., Monfort-Membrado,S., Pitarch-Castellano,I. and
            Martinez-Castellano,F.
  TITLE     Mitochondrial developmental encephalopathy with bilateral optic
            neuropathy related to homozygous variants in IMMT gene
  JOURNAL   Clin Genet 101 (2), 233-241 (2022)
   PUBMED   34842280
  REMARK    GeneRIF: Mitochondrial developmental encephalopathy with bilateral
            optic neuropathy related to homozygous variants in IMMT gene.
REFERENCE   4  (bases 1 to 2689)
  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   5  (bases 1 to 2689)
  AUTHORS   Urbach,J., Kondadi,A.K., David,C., Naha,R., Deinert,K.,
            Reichert,A.S. and Anand,R.
  TITLE     Conserved GxxxG and WN motifs of MIC13 are essential for bridging
            two MICOS subcomplexes
  JOURNAL   Biochim Biophys Acta Biomembr 1863 (12), 183683 (2021)
   PUBMED   34271005
  REMARK    GeneRIF: Conserved GxxxG and WN motifs of MIC13 are essential for
            bridging two MICOS subcomplexes.
REFERENCE   6  (bases 1 to 2689)
  AUTHORS   Bernert,G., Fountoulakis,M. and Lubec,G.
  TITLE     Manifold decreased protein levels of matrin 3, reduced motor
            protein HMP and hlark in fetal Down's syndrome brain
  JOURNAL   Proteomics 2 (12), 1752-1757 (2002)
   PUBMED   12469345
  REMARK    GeneRIF: Data show that the nuclear matrix protein matrin 3,
            cytoskeletal motor protein HMP, and the circadian clock protein
            lark were significantly decreased in fetal Down syndrome brain.
REFERENCE   7  (bases 1 to 2689)
  AUTHORS   Liu,J., Akoulitchev,S., Weber,A., Ge,H., Chuikov,S., Libutti,D.,
            Wang,X.W., Conaway,J.W., Harris,C.C., Conaway,R.C., Reinberg,D. and
            Levens,D.
  TITLE     Defective interplay of activators and repressors with TFIH in
            xeroderma pigmentosum
  JOURNAL   Cell 104 (3), 353-363 (2001)
   PUBMED   11239393
REFERENCE   8  (bases 1 to 2689)
  AUTHORS   Gieffers,C., Korioth,F., Heimann,P., Ungermann,C. and Frey,J.
  TITLE     Mitofilin is a transmembrane protein of the inner mitochondrial
            membrane expressed as two isoforms
  JOURNAL   Exp Cell Res 232 (2), 395-399 (1997)
   PUBMED   9168817
REFERENCE   9  (bases 1 to 2689)
  AUTHORS   Icho,T., Ikeda,T., Matsumoto,Y., Hanaoka,F., Kaji,K. and
            Tsuchida,N.
  TITLE     A novel human gene that is preferentially transcribed in heart
            muscle
  JOURNAL   Gene 144 (2), 301-306 (1994)
   PUBMED   8039717
REFERENCE   10 (bases 1 to 2689)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC403234.1, BC002412.2 and BC027458.1.
            
            On Apr 29, 2020 this sequence version replaced NM_006839.2.
            
            Transcript Variant: This variant (1) encodes the longest 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 :: BC002412.2, L42572.1 [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                 :: ENST00000410111.8/
                                                  ENSP00000387262.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                DC403234.1         309-359
            52-1864             BC002412.2         1-1813
            1865-2689           BC027458.1         526-1350
FEATURES             Location/Qualifiers
     source          1..2689
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2689
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="inner membrane mitochondrial protein"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
     exon            1..125
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..2357
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="isoform 1 is encoded by transcript variant 1; motor
                     protein; mitofilin; mitochondrial inner membrane protein;
                     cell proliferation-inducing protein 52; MICOS complex
                     subunit MIC60; proliferation-inducing gene 4; cell
                     proliferation-inducing gene 4/52 protein; mitochondrial
                     inner membrane organizing system 2; heart muscle protein;
                     mitochondrial contact site and cristae organizing system
                     subunit 60"
                     /codon_start=1
                     /product="MICOS complex subunit MIC60 isoform 1"
                     /protein_id="NP_006830.2"
                     /db_xref="CCDS:CCDS46355.1"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
                     /translation="MLRACQLSGVTAAAQSCLCGKFVLRPLRPCRRYSTSGSSGLTTG
                     KIAGAGLLFVGGGIGGTILYAKWDSHFRESVEKTIPYSDKLFEMVLGPAAYNVPLPKK
                     SIQSGPLKISSVSEVMKESKQPASQLQKQKGDTPASATAPTEAAQIISAAGDTLSVPA
                     PAVQPEESLKTDHPEIGEGKPTPALSEEASSSSIRERPPEEVAARLAQQEKQEQVKIE
                     SLAKSLEDALRQTASVTLQAIAAQNAAVQAVNAHSNILKAAMDNSEIAGEKKSAQWRT
                     VEGALKERRKAVDEAADALLKAKEELEKMKSVIENAKKKEVAGAKPHITAAEGKLHNM
                     IVDLDNVVKKVQAAQSEAKVVSQYHELVVQARDDFKRELDSITPEVLPGWKGMSVSDL
                     ADKLSTDDLNSLIAHAHRRIDQLNRELAEQKATEKQHITLALEKQKLEEKRAFDSAVA
                     KALEHHRSEIQAEQDRKIEEVRDAMENEMRTQLRRQAAAHTDHLRDVLRVQEQELKSE
                     FEQNLSEKLSEQELQFRRLSQEQVDNFTLDINTAYARLRGIEQAVQSHAVAEEEARKA
                     HQLWLSVEALKYSMKTSSAETPTIPLGSAVEAIKANCSDNEFTQALTAAIPPESLTRG
                     VYSEETLRARFYAVQKLARRVAMIDETRNSLYQYFLSYLQSLLLFPPQQLKPPPELCP
                     EDINTFKLLSYASYCIEHGDLELAAKFVNQLKGESRRVAQDWLKEARMTLETKQIVEI
                     LTAYASAVGIGTTQVQPE"
     exon            126..199
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            200..389
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            390..501
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            502..639
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            640..735
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            736..872
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            873..976
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1112
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1242
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1257
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1481
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1613
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1614..1743
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..2689
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2669..2674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="hexamer: AATAAA"
     polyA_site      2689
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="major polyA site"
ORIGIN      
        1 acacacgcaa gcacgcctcc acttaactcg cgccgccgcg gcagctcgag tccaccagca
       61 gcgccgtccg cttgaccgag atgctgcggg cctgtcagtt atcgggtgtg accgccgccg
      121 cccagagttg tctctgtggg aagtttgtcc tccgtccatt gcgaccatgc cgcagatact
      181 ctacttcagg cagctctggg ttgactactg gcaaaattgc tggagctggc cttttgtttg
      241 ttggtggagg tattggtggc actatcctat atgccaaatg ggattcccat ttccgggaaa
      301 gtgtagagaa aaccatacct tactcagaca aactcttcga gatggttctt ggtcctgcag
      361 cttataatgt tccattgcca aagaaatcga ttcagtcggg tccactaaaa atctctagtg
      421 tatcagaagt aatgaaagaa tctaaacagc ctgcctcaca actccaaaaa caaaagggag
      481 atactccagc ttcagcaaca gcacctacag aagcggctca aattatttct gcagcaggtg
      541 ataccctgtc ggtcccagcc cctgcagttc agcctgagga atctttaaaa actgatcacc
      601 ctgaaattgg tgaaggaaaa cccacacctg cactttcaga agaagcatcc tcatcttcta
      661 taagggagcg accacctgaa gaagttgcag ctcgccttgc acaacaggaa aaacaagaac
      721 aagttaaaat tgagtctcta gccaagagct tagaagatgc tctgaggcaa actgcaagtg
      781 tcactctgca ggctattgca gctcagaatg ctgcggtcca ggctgtcaat gcacactcca
      841 acatattgaa agccgccatg gacaattctg agattgcagg cgagaagaaa tctgctcagt
      901 ggcgcacagt ggagggtgca ttgaaggaac gcagaaaggc agtagatgaa gctgccgatg
      961 cccttctcaa agccaaagaa gagttagaga agatgaaaag tgtgattgaa aatgcaaaga
     1021 aaaaagaggt tgctggggcc aagcctcata taactgctgc agagggtaaa cttcacaaca
     1081 tgatagttga tctggataat gtggtcaaaa aggtccaagc agctcagtct gaggctaagg
     1141 ttgtatctca gtatcatgag ctggtggtcc aagctcggga tgactttaaa cgagagctgg
     1201 acagtattac tccagaagtc cttcctgggt ggaaaggaat gagtgtttca gacttagctg
     1261 acaagctctc tactgatgat ctgaactccc tcattgctca tgcacatcgt cgtattgatc
     1321 agctgaacag agagctggca gaacagaagg ccaccgaaaa gcagcacatc acgttagcct
     1381 tggagaaaca aaagctggaa gaaaagcggg catttgactc tgcagtagca aaagcattag
     1441 aacatcacag aagtgaaata caggctgaac aggacagaaa gatagaagaa gtcagagatg
     1501 ccatggaaaa tgaaatgaga acccagcttc gccgacaggc agctgcccac actgatcact
     1561 tgcgagatgt ccttagggta caagaacagg aattgaagtc tgaatttgag cagaacctgt
     1621 ctgagaaact ctctgaacaa gaattacaat ttcgtcgtct cagtcaagag caagttgaca
     1681 actttactct ggatataaat actgcctatg ccagactcag aggaatcgaa caggctgttc
     1741 agagccatgc agttgctgaa gaggaagcca gaaaagccca ccaactctgg ctttcagtgg
     1801 aggcattaaa gtacagcatg aagacctcat ctgcagaaac acctactatc ccgctgggta
     1861 gtgcagttga ggccatcaaa gccaactgtt ctgataatga attcacccaa gctttaaccg
     1921 cagctatccc tccagagtcc ctgacccgtg gggtgtacag tgaagagacc cttagagccc
     1981 gtttctatgc tgttcaaaaa ctggcccgaa gggtagcaat gattgatgaa accagaaata
     2041 gcttgtacca gtacttcctc tcctacctac agtccctgct cctattccca cctcagcaac
     2101 tgaagccgcc cccagagctc tgccctgagg atataaacac atttaaatta ctgtcatatg
     2161 cttcctattg cattgagcat ggtgatctgg agctagcagc aaagtttgtc aatcagctga
     2221 agggggaatc cagacgagtg gcacaggact ggctgaagga agcccgaatg accctagaaa
     2281 cgaaacagat agtggaaatc ctgacagcat atgccagcgc cgtaggaata ggaaccactc
     2341 aggtgcagcc agagtgaggt ttaggaagat tttcataaag tcatatttca tgtcaaagga
     2401 aatcagcagt gatagatgaa gggttcgcag cgagagtccc ggacttgtct agaaatgagc
     2461 aggtttacaa gtactgttct aaatgttaac acctgttgca tttatattct ttccatttgc
     2521 tatcatgtca gtgaacgcca ggagtgcttt ctttgcaact tgtgtaacat tttctgtttt
     2581 ttcaggtttt actgatgagg cttgtgaggc caatcaaaat aatgtttgtg atctctacta
     2641 ctgttgattt tgccctcgga gcaaactgaa taaagcaaca agatgaaaa
//
