LOCUS       NM_001400122            2560 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens inner membrane mitochondrial protein (IMMT),
            transcript variant 32, mRNA.
ACCESSION   NM_001400122 XM_005264114
VERSION     NM_001400122.1
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 2560)
  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 2560)
  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 2560)
  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 2560)
  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 2560)
  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 2560)
  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 2560)
  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 2560)
  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 2560)
  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 2560)
  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.
            
            On Jan 20, 2022 this sequence version replaced XM_005264114.2.
            
            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##
            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
            502-606             AC009309.4         49262-49366
            607-743             AC009309.4         53930-54066
            744-847             AC009309.4         58495-58598
            848-983             AC009309.4         60903-61038
            984-1113            AC009309.4         61853-61982
            1114-1128           AC009309.4         67000-67014
            1129-1352           AC009309.4         69054-69277
            1353-1484           AC009309.4         72741-72872
            1485-1614           AC009309.4         74377-74506
            1615-2560           AC009309.4         75693-76638
FEATURES             Location/Qualifiers
     source          1..2560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2560
                     /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..2228
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="isoform 23 is encoded by transcript variant 32;
                     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 23"
                     /protein_id="NP_001387051.1"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
                     /translation="MLRACQLSGVTAAAQSCLCGKFVLRPLRPCRRYSTSGSSGLTTG
                     KIAGAGLLFVGGGIGGTILYAKWDSHFRESVEKTIPYSDKLFEMVLGPAAYNVPLPKK
                     SIQSGPLKISSVSEVMKESKQPASQLQKQKGDTPASATAGDTLSVPAPAVQPEESLKT
                     DHPEIGEGKPTPALSALAKSLEDALRQTASVTLQAIAAQNAAVQAVNAHSNILKAAMD
                     NSEIAGEKKSAQWRTVEGALKERRKAVDEAADALLKAKEELEKMKSVIENAKKKEVAG
                     AKPHITAAEGKLHNMIVDLDNVVKKVQAAQSEAKVVSQYHELVVQARDDFKRELDSIT
                     PEVLPGWKGMSVSDLADKLSTDDLNSLIAHAHRRIDQLNRELAEQKATEKQHITLALE
                     KQKLEEKRAFDSAVAKALEHHRSEIQAEQDRKIEEVRDAMENEMRTQLRRQAAAHTDH
                     LRDVLRVQEQELKSEFEQNLSEKLSEQELQFRRLSQEQVDNFTLDINTAYARLRGIEQ
                     AVQSHAVAEEEARKAHQLWLSVEALKYSMKTSSAETPTIPLGSAVEAIKANCSDNEFT
                     QALTAAIPPESLTRGVYSEETLRARFYAVQKLARRVAMIDETRNSLYQYFLSYLQSLL
                     LFPPQQLKPPPELCPEDINTFKLLSYASYCIEHGDLELAAKFVNQLKGESRRVAQDWL
                     KEARMTLETKQIVEILTAYASAVGIGTTQVQPE"
     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..743
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            744..847
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            848..983
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1113
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1128
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1352
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1484
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1614
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..2560
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2540..2545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="hexamer: AATAAA"
     polyA_site      2560
                     /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 tttcagctct agccaagagc ttagaagatg ctctgaggca aactgcaagt gtcactctgc
      661 aggctattgc agctcagaat gctgcggtcc aggctgtcaa tgcacactcc aacatattga
      721 aagccgccat ggacaattct gagattgcag gcgagaagaa atctgctcag tggcgcacag
      781 tggagggtgc attgaaggaa cgcagaaagg cagtagatga agctgccgat gcccttctca
      841 aagccaaaga agagttagag aagatgaaaa gtgtgattga aaatgcaaag aaaaaagagg
      901 ttgctggggc caagcctcat ataactgctg cagagggtaa acttcacaac atgatagttg
      961 atctggataa tgtggtcaaa aaggtccaag cagctcagtc tgaggctaag gttgtatctc
     1021 agtatcatga gctggtggtc caagctcggg atgactttaa acgagagctg gacagtatta
     1081 ctccagaagt ccttcctggg tggaaaggaa tgagtgtttc agacttagct gacaagctct
     1141 ctactgatga tctgaactcc ctcattgctc atgcacatcg tcgtattgat cagctgaaca
     1201 gagagctggc agaacagaag gccaccgaaa agcagcacat cacgttagcc ttggagaaac
     1261 aaaagctgga agaaaagcgg gcatttgact ctgcagtagc aaaagcatta gaacatcaca
     1321 gaagtgaaat acaggctgaa caggacagaa agatagaaga agtcagagat gccatggaaa
     1381 atgaaatgag aacccagctt cgccgacagg cagctgccca cactgatcac ttgcgagatg
     1441 tccttagggt acaagaacag gaattgaagt ctgaatttga gcagaacctg tctgagaaac
     1501 tctctgaaca agaattacaa tttcgtcgtc tcagtcaaga gcaagttgac aactttactc
     1561 tggatataaa tactgcctat gccagactca gaggaatcga acaggctgtt cagagccatg
     1621 cagttgctga agaggaagcc agaaaagccc accaactctg gctttcagtg gaggcattaa
     1681 agtacagcat gaagacctca tctgcagaaa cacctactat cccgctgggt agtgcagttg
     1741 aggccatcaa agccaactgt tctgataatg aattcaccca agctttaacc gcagctatcc
     1801 ctccagagtc cctgacccgt ggggtgtaca gtgaagagac ccttagagcc cgtttctatg
     1861 ctgttcaaaa actggcccga agggtagcaa tgattgatga aaccagaaat agcttgtacc
     1921 agtacttcct ctcctaccta cagtccctgc tcctattccc acctcagcaa ctgaagccgc
     1981 ccccagagct ctgccctgag gatataaaca catttaaatt actgtcatat gcttcctatt
     2041 gcattgagca tggtgatctg gagctagcag caaagtttgt caatcagctg aagggggaat
     2101 ccagacgagt ggcacaggac tggctgaagg aagcccgaat gaccctagaa acgaaacaga
     2161 tagtggaaat cctgacagca tatgccagcg ccgtaggaat aggaaccact caggtgcagc
     2221 cagagtgagg tttaggaaga ttttcataaa gtcatatttc atgtcaaagg aaatcagcag
     2281 tgatagatga agggttcgca gcgagagtcc cggacttgtc tagaaatgag caggtttaca
     2341 agtactgttc taaatgttaa cacctgttgc atttatattc tttccatttg ctatcatgtc
     2401 agtgaacgcc aggagtgctt tctttgcaac ttgtgtaaca ttttctgttt tttcaggttt
     2461 tactgatgag gcttgtgagg ccaatcaaaa taatgtttgt gatctctact actgttgatt
     2521 ttgccctcgg agcaaactga ataaagcaac aagatgaaaa
//
