LOCUS       NM_001400129            2725 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens inner membrane mitochondrial protein (IMMT),
            transcript variant 39, mRNA.
ACCESSION   NM_001400129
VERSION     NM_001400129.1
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 2725)
  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 2725)
  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 2725)
  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 2725)
  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 2725)
  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 2725)
  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 2725)
  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 2725)
  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 2725)
  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 2725)
  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
            AC009309.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            CDS exon combination :: BU527646.1 [ECO:0000331]
            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##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AC009309.4         25112-25236
            126-199             AC009309.4         39202-39275
            200-389             AC009309.4         40952-41141
            390-501             AC009309.4         46813-46924
            502-675             AC009309.4         49193-49366
            676-771             AC009309.4         49730-49825
            772-908             AC009309.4         53930-54066
            909-1012            AC009309.4         58495-58598
            1013-1148           AC009309.4         60903-61038
            1149-1278           AC009309.4         61853-61982
            1279-1293           AC009309.4         67000-67014
            1294-1517           AC009309.4         69054-69277
            1518-1649           AC009309.4         72741-72872
            1650-1779           AC009309.4         74377-74506
            1780-2725           AC009309.4         75693-76638
FEATURES             Location/Qualifiers
     source          1..2725
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2725
                     /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"
     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..675
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            676..771
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            772..908
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     CDS             894..2393
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="isoform 25 is encoded by transcript variant 39;
                     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 25"
                     /protein_id="NP_001387058.1"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
                     /translation="MDNSEIAGEKKSAQWRTVEGALKERRKAVDEAADALLKAKEELE
                     KMKSVIENAKKKEVAGAKPHITAAEGKLHNMIVDLDNVVKKVQAAQSEAKVVSQYHEL
                     VVQARDDFKRELDSITPEVLPGWKGMSVSDLADKLSTDDLNSLIAHAHRRIDQLNREL
                     AEQKATEKQHITLALEKQKLEEKRAFDSAVAKALEHHRSEIQAEQDRKIEEVRDAMEN
                     EMRTQLRRQAAAHTDHLRDVLRVQEQELKSEFEQNLSEKLSEQELQFRRLSQEQVDNF
                     TLDINTAYARLRGIEQAVQSHAVAEEEARKAHQLWLSVEALKYSMKTSSAETPTIPLG
                     SAVEAIKANCSDNEFTQALTAAIPPESLTRGVYSEETLRARFYAVQKLARRVAMIDET
                     RNSLYQYFLSYLQSLLLFPPQQLKPPPELCPEDINTFKLLSYASYCIEHGDLELAAKF
                     VNQLKGESRRVAQDWLKEARMTLETKQIVEILTAYASAVGIGTTQVQPE"
     exon            909..1012
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1148
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1278
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1293
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1517
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..1649
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1779
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..2725
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2705..2710
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="hexamer: AATAAA"
     polyA_site      2725
                     /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 ggaaagtata aataccatga gtaacatata tttatagcac
      541 ctacagaagc ggctcaaatt atttctgcag caggtgatac cctgtcggtc ccagcccctg
      601 cagttcagcc tgaggaatct ttaaaaactg atcaccctga aattggtgaa ggaaaaccca
      661 cacctgcact ttcagaagaa gcatcctcat cttctataag ggagcgacca cctgaagaag
      721 ttgcagctcg ccttgcacaa caggaaaaac aagaacaagt taaaattgag tctctagcca
      781 agagcttaga agatgctctg aggcaaactg caagtgtcac tctgcaggct attgcagctc
      841 agaatgctgc ggtccaggct gtcaatgcac actccaacat attgaaagcc gccatggaca
      901 attctgagat tgcaggcgag aagaaatctg ctcagtggcg cacagtggag ggtgcattga
      961 aggaacgcag aaaggcagta gatgaagctg ccgatgccct tctcaaagcc aaagaagagt
     1021 tagagaagat gaaaagtgtg attgaaaatg caaagaaaaa agaggttgct ggggccaagc
     1081 ctcatataac tgctgcagag ggtaaacttc acaacatgat agttgatctg gataatgtgg
     1141 tcaaaaaggt ccaagcagct cagtctgagg ctaaggttgt atctcagtat catgagctgg
     1201 tggtccaagc tcgggatgac tttaaacgag agctggacag tattactcca gaagtccttc
     1261 ctgggtggaa aggaatgagt gtttcagact tagctgacaa gctctctact gatgatctga
     1321 actccctcat tgctcatgca catcgtcgta ttgatcagct gaacagagag ctggcagaac
     1381 agaaggccac cgaaaagcag cacatcacgt tagccttgga gaaacaaaag ctggaagaaa
     1441 agcgggcatt tgactctgca gtagcaaaag cattagaaca tcacagaagt gaaatacagg
     1501 ctgaacagga cagaaagata gaagaagtca gagatgccat ggaaaatgaa atgagaaccc
     1561 agcttcgccg acaggcagct gcccacactg atcacttgcg agatgtcctt agggtacaag
     1621 aacaggaatt gaagtctgaa tttgagcaga acctgtctga gaaactctct gaacaagaat
     1681 tacaatttcg tcgtctcagt caagagcaag ttgacaactt tactctggat ataaatactg
     1741 cctatgccag actcagagga atcgaacagg ctgttcagag ccatgcagtt gctgaagagg
     1801 aagccagaaa agcccaccaa ctctggcttt cagtggaggc attaaagtac agcatgaaga
     1861 cctcatctgc agaaacacct actatcccgc tgggtagtgc agttgaggcc atcaaagcca
     1921 actgttctga taatgaattc acccaagctt taaccgcagc tatccctcca gagtccctga
     1981 cccgtggggt gtacagtgaa gagaccctta gagcccgttt ctatgctgtt caaaaactgg
     2041 cccgaagggt agcaatgatt gatgaaacca gaaatagctt gtaccagtac ttcctctcct
     2101 acctacagtc cctgctccta ttcccacctc agcaactgaa gccgccccca gagctctgcc
     2161 ctgaggatat aaacacattt aaattactgt catatgcttc ctattgcatt gagcatggtg
     2221 atctggagct agcagcaaag tttgtcaatc agctgaaggg ggaatccaga cgagtggcac
     2281 aggactggct gaaggaagcc cgaatgaccc tagaaacgaa acagatagtg gaaatcctga
     2341 cagcatatgc cagcgccgta ggaataggaa ccactcaggt gcagccagag tgaggtttag
     2401 gaagattttc ataaagtcat atttcatgtc aaaggaaatc agcagtgata gatgaagggt
     2461 tcgcagcgag agtcccggac ttgtctagaa atgagcaggt ttacaagtac tgttctaaat
     2521 gttaacacct gttgcattta tattctttcc atttgctatc atgtcagtga acgccaggag
     2581 tgctttcttt gcaacttgtg taacattttc tgttttttca ggttttactg atgaggcttg
     2641 tgaggccaat caaaataatg tttgtgatct ctactactgt tgattttgcc ctcggagcaa
     2701 actgaataaa gcaacaagat gaaaa
//
