LOCUS       NM_001100170            2656 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens inner membrane mitochondrial protein (IMMT),
            transcript variant 3, mRNA.
ACCESSION   NM_001100170
VERSION     NM_001100170.2
KEYWORDS    RefSeq.
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 2656)
  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 2656)
  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 2656)
  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 2656)
  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 2656)
  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 2656)
  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 2656)
  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 2656)
  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 2656)
  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 2656)
  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, AK225780.1 and BC027458.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001100170.1.
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the mid-coding region, compared to variant 1,
            resulting in a protein (isoform 3) that is shorter than 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 :: AK225780.1, BX537369.1 [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
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                DC403234.1         309-359
            52-450              BC002412.2         1-399
            451-905             AK225780.1         426-880
            906-1831            BC002412.2         888-1813
            1832-2656           BC027458.1         526-1350
FEATURES             Location/Qualifiers
     source          1..2656
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2656
                     /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..2324
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="isoform 3 is encoded by transcript variant 3; 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 3"
                     /protein_id="NP_001093640.1"
                     /db_xref="CCDS:CCDS46357.1"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
                     /translation="MLRACQLSGVTAAAQSCLCGKFVLRPLRPCRRYSTSGSSGLTTG
                     KIAGAGLLFVGGGIGGTILYAKWDSHFRESVEKTIPYSDKLFEMVLGPAAYNVPLPKK
                     SIQSGPLKISSVSEVMKESKQPASQLQKQKGDTPASATAGDTLSVPAPAVQPEESLKT
                     DHPEIGEGKPTPALSEEASSSSIRERPPEEVAARLAQQEKQEQVKIESLAKSLEDALR
                     QTASVTLQAIAAQNAAVQAVNAHSNILKAAMDNSEIAGEKKSAQWRTVEGALKERRKA
                     VDEAADALLKAKEELEKMKSVIENAKKKEVAGAKPHITAAEGKLHNMIVDLDNVVKKV
                     QAAQSEAKVVSQYHELVVQARDDFKRELDSITPEVLPGWKGMSVSDLADKLSTDDLNS
                     LIAHAHRRIDQLNRELAEQKATEKQHITLALEKQKLEEKRAFDSAVAKALEHHRSEIQ
                     AEQDRKIEEVRDAMENEMRTQLRRQAAAHTDHLRDVLRVQEQELKSEFEQNLSEKLSE
                     QELQFRRLSQEQVDNFTLDINTAYARLRGIEQAVQSHAVAEEEARKAHQLWLSVEALK
                     YSMKTSSAETPTIPLGSAVEAIKANCSDNEFTQALTAAIPPESLTRGVYSEETLRARF
                     YAVQKLARRVAMIDETRNSLYQYFLSYLQSLLLFPPQQLKPPPELCPEDINTFKLLSY
                     ASYCIEHGDLELAAKFVNQLKGESRRVAQDWLKEARMTLETKQIVEILTAYASAVGIG
                     TTQVQPE"
     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..606
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            607..702
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            703..839
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            840..943
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1079
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1209
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1224
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1448
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1580
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1581..1710
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1711..2656
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2636..2641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="hexamer: AATAAA"
     polyA_site      2656
                     /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 gcaggtgata ccctgtcggt cccagcccct gcagttcagc
      541 ctgaggaatc tttaaaaact gatcaccctg aaattggtga aggaaaaccc acacctgcac
      601 tttcagaaga agcatcctca tcttctataa gggagcgacc acctgaagaa gttgcagctc
      661 gccttgcaca acaggaaaaa caagaacaag ttaaaattga gtctctagcc aagagcttag
      721 aagatgctct gaggcaaact gcaagtgtca ctctgcaggc tattgcagct cagaatgctg
      781 cggtccaggc tgtcaatgca cactccaaca tattgaaagc cgccatggac aattctgaga
      841 ttgcaggcga gaagaaatct gctcagtggc gcacagtgga gggtgcattg aaggaacgca
      901 gaaaggcagt agatgaagct gccgatgccc ttctcaaagc caaagaagag ttagagaaga
      961 tgaaaagtgt gattgaaaat gcaaagaaaa aagaggttgc tggggccaag cctcatataa
     1021 ctgctgcaga gggtaaactt cacaacatga tagttgatct ggataatgtg gtcaaaaagg
     1081 tccaagcagc tcagtctgag gctaaggttg tatctcagta tcatgagctg gtggtccaag
     1141 ctcgggatga ctttaaacga gagctggaca gtattactcc agaagtcctt cctgggtgga
     1201 aaggaatgag tgtttcagac ttagctgaca agctctctac tgatgatctg aactccctca
     1261 ttgctcatgc acatcgtcgt attgatcagc tgaacagaga gctggcagaa cagaaggcca
     1321 ccgaaaagca gcacatcacg ttagccttgg agaaacaaaa gctggaagaa aagcgggcat
     1381 ttgactctgc agtagcaaaa gcattagaac atcacagaag tgaaatacag gctgaacagg
     1441 acagaaagat agaagaagtc agagatgcca tggaaaatga aatgagaacc cagcttcgcc
     1501 gacaggcagc tgcccacact gatcacttgc gagatgtcct tagggtacaa gaacaggaat
     1561 tgaagtctga atttgagcag aacctgtctg agaaactctc tgaacaagaa ttacaatttc
     1621 gtcgtctcag tcaagagcaa gttgacaact ttactctgga tataaatact gcctatgcca
     1681 gactcagagg aatcgaacag gctgttcaga gccatgcagt tgctgaagag gaagccagaa
     1741 aagcccacca actctggctt tcagtggagg cattaaagta cagcatgaag acctcatctg
     1801 cagaaacacc tactatcccg ctgggtagtg cagttgaggc catcaaagcc aactgttctg
     1861 ataatgaatt cacccaagct ttaaccgcag ctatccctcc agagtccctg acccgtgggg
     1921 tgtacagtga agagaccctt agagcccgtt tctatgctgt tcaaaaactg gcccgaaggg
     1981 tagcaatgat tgatgaaacc agaaatagct tgtaccagta cttcctctcc tacctacagt
     2041 ccctgctcct attcccacct cagcaactga agccgccccc agagctctgc cctgaggata
     2101 taaacacatt taaattactg tcatatgctt cctattgcat tgagcatggt gatctggagc
     2161 tagcagcaaa gtttgtcaat cagctgaagg gggaatccag acgagtggca caggactggc
     2221 tgaaggaagc ccgaatgacc ctagaaacga aacagatagt ggaaatcctg acagcatatg
     2281 ccagcgccgt aggaatagga accactcagg tgcagccaga gtgaggttta ggaagatttt
     2341 cataaagtca tatttcatgt caaaggaaat cagcagtgat agatgaaggg ttcgcagcga
     2401 gagtcccgga cttgtctaga aatgagcagg tttacaagta ctgttctaaa tgttaacacc
     2461 tgttgcattt atattctttc catttgctat catgtcagtg aacgccagga gtgctttctt
     2521 tgcaacttgt gtaacatttt ctgttttttc aggttttact gatgaggctt gtgaggccaa
     2581 tcaaaataat gtttgtgatc tctactactg ttgattttgc cctcggagca aactgaataa
     2641 agcaacaaga tgaaaa
//
