LOCUS       NM_001400117            2582 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens inner membrane mitochondrial protein (IMMT),
            transcript variant 27, mRNA.
ACCESSION   NM_001400117
VERSION     NM_001400117.1
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 2582)
  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 2582)
  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 2582)
  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 2582)
  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 2582)
  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 2582)
  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 2582)
  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 2582)
  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 2582)
  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 2582)
  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 :: AK299596.1 [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
            126-315             AC009309.4         40952-41141
            316-427             AC009309.4         46813-46924
            428-532             AC009309.4         49262-49366
            533-628             AC009309.4         49730-49825
            629-765             AC009309.4         53930-54066
            766-869             AC009309.4         58495-58598
            870-1005            AC009309.4         60903-61038
            1006-1135           AC009309.4         61853-61982
            1136-1150           AC009309.4         67000-67014
            1151-1374           AC009309.4         69054-69277
            1375-1506           AC009309.4         72741-72872
            1507-1636           AC009309.4         74377-74506
            1637-2582           AC009309.4         75693-76638
FEATURES             Location/Qualifiers
     source          1..2582
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2582
                     /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..315
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     CDS             268..2250
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="isoform 19 is encoded by transcript variant 27;
                     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 19"
                     /protein_id="NP_001387046.1"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
                     /translation="MVLGPAAYNVPLPKKSIQSGPLKISSVSEVMKESKQPASQLQKQ
                     KGDTPASATAGDTLSVPAPAVQPEESLKTDHPEIGEGKPTPALSEEASSSSIRERPPE
                     EVAARLAQQEKQEQVKIESLAKSLEDALRQTASVTLQAIAAQNAAVQAVNAHSNILKA
                     AMDNSEIAGEKKSAQWRTVEGALKERRKAVDEAADALLKAKEELEKMKSVIENAKKKE
                     VAGAKPHITAAEGKLHNMIVDLDNVVKKVQAAQSEAKVVSQYHELVVQARDDFKRELD
                     SITPEVLPGWKGMSVSDLADKLSTDDLNSLIAHAHRRIDQLNRELAEQKATEKQHITL
                     ALEKQKLEEKRAFDSAVAKALEHHRSEIQAEQDRKIEEVRDAMENEMRTQLRRQAAAH
                     TDHLRDVLRVQEQELKSEFEQNLSEKLSEQELQFRRLSQEQVDNFTLDINTAYARLRG
                     IEQAVQSHAVAEEEARKAHQLWLSVEALKYSMKTSSAETPTIPLGSAVEAIKANCSDN
                     EFTQALTAAIPPESLTRGVYSEETLRARFYAVQKLARRVAMIDETRNSLYQYFLSYLQ
                     SLLLFPPQQLKPPPELCPEDINTFKLLSYASYCIEHGDLELAAKFVNQLKGESRRVAQ
                     DWLKEARMTLETKQIVEILTAYASAVGIGTTQVQPE"
     exon            316..427
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            428..532
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            533..628
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            629..765
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            766..869
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            870..1005
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1135
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1150
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1374
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..1506
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1636
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..2582
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2562..2567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="hexamer: AATAAA"
     polyA_site      2582
                     /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 cccaggttga ctactggcaa aattgctgga gctggccttt tgtttgttgg tggaggtatt
      181 ggtggcacta tcctatatgc caaatgggat tcccatttcc gggaaagtgt agagaaaacc
      241 ataccttact cagacaaact cttcgagatg gttcttggtc ctgcagctta taatgttcca
      301 ttgccaaaga aatcgattca gtcgggtcca ctaaaaatct ctagtgtatc agaagtaatg
      361 aaagaatcta aacagcctgc ctcacaactc caaaaacaaa agggagatac tccagcttca
      421 gcaacagcag gtgataccct gtcggtccca gcccctgcag ttcagcctga ggaatcttta
      481 aaaactgatc accctgaaat tggtgaagga aaacccacac ctgcactttc agaagaagca
      541 tcctcatctt ctataaggga gcgaccacct gaagaagttg cagctcgcct tgcacaacag
      601 gaaaaacaag aacaagttaa aattgagtct ctagccaaga gcttagaaga tgctctgagg
      661 caaactgcaa gtgtcactct gcaggctatt gcagctcaga atgctgcggt ccaggctgtc
      721 aatgcacact ccaacatatt gaaagccgcc atggacaatt ctgagattgc aggcgagaag
      781 aaatctgctc agtggcgcac agtggagggt gcattgaagg aacgcagaaa ggcagtagat
      841 gaagctgccg atgcccttct caaagccaaa gaagagttag agaagatgaa aagtgtgatt
      901 gaaaatgcaa agaaaaaaga ggttgctggg gccaagcctc atataactgc tgcagagggt
      961 aaacttcaca acatgatagt tgatctggat aatgtggtca aaaaggtcca agcagctcag
     1021 tctgaggcta aggttgtatc tcagtatcat gagctggtgg tccaagctcg ggatgacttt
     1081 aaacgagagc tggacagtat tactccagaa gtccttcctg ggtggaaagg aatgagtgtt
     1141 tcagacttag ctgacaagct ctctactgat gatctgaact ccctcattgc tcatgcacat
     1201 cgtcgtattg atcagctgaa cagagagctg gcagaacaga aggccaccga aaagcagcac
     1261 atcacgttag ccttggagaa acaaaagctg gaagaaaagc gggcatttga ctctgcagta
     1321 gcaaaagcat tagaacatca cagaagtgaa atacaggctg aacaggacag aaagatagaa
     1381 gaagtcagag atgccatgga aaatgaaatg agaacccagc ttcgccgaca ggcagctgcc
     1441 cacactgatc acttgcgaga tgtccttagg gtacaagaac aggaattgaa gtctgaattt
     1501 gagcagaacc tgtctgagaa actctctgaa caagaattac aatttcgtcg tctcagtcaa
     1561 gagcaagttg acaactttac tctggatata aatactgcct atgccagact cagaggaatc
     1621 gaacaggctg ttcagagcca tgcagttgct gaagaggaag ccagaaaagc ccaccaactc
     1681 tggctttcag tggaggcatt aaagtacagc atgaagacct catctgcaga aacacctact
     1741 atcccgctgg gtagtgcagt tgaggccatc aaagccaact gttctgataa tgaattcacc
     1801 caagctttaa ccgcagctat ccctccagag tccctgaccc gtggggtgta cagtgaagag
     1861 acccttagag cccgtttcta tgctgttcaa aaactggccc gaagggtagc aatgattgat
     1921 gaaaccagaa atagcttgta ccagtacttc ctctcctacc tacagtccct gctcctattc
     1981 ccacctcagc aactgaagcc gcccccagag ctctgccctg aggatataaa cacatttaaa
     2041 ttactgtcat atgcttccta ttgcattgag catggtgatc tggagctagc agcaaagttt
     2101 gtcaatcagc tgaaggggga atccagacga gtggcacagg actggctgaa ggaagcccga
     2161 atgaccctag aaacgaaaca gatagtggaa atcctgacag catatgccag cgccgtagga
     2221 ataggaacca ctcaggtgca gccagagtga ggtttaggaa gattttcata aagtcatatt
     2281 tcatgtcaaa ggaaatcagc agtgatagat gaagggttcg cagcgagagt cccggacttg
     2341 tctagaaatg agcaggttta caagtactgt tctaaatgtt aacacctgtt gcatttatat
     2401 tctttccatt tgctatcatg tcagtgaacg ccaggagtgc tttctttgca acttgtgtaa
     2461 cattttctgt tttttcaggt tttactgatg aggcttgtga ggccaatcaa aataatgttt
     2521 gtgatctcta ctactgttga ttttgccctc ggagcaaact gaataaagca acaagatgaa
     2581 aa
//
