LOCUS       NM_001400108            2647 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens inner membrane mitochondrial protein (IMMT),
            transcript variant 18, mRNA.
ACCESSION   NM_001400108
VERSION     NM_001400108.1
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 2647)
  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 2647)
  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 2647)
  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 2647)
  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 2647)
  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 2647)
  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 2647)
  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 2647)
  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 2647)
  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 2647)
  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##
            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
            502-603             AC009309.4         49265-49366
            604-699             AC009309.4         49730-49825
            700-830             AC009309.4         53936-54066
            831-934             AC009309.4         58495-58598
            935-1070            AC009309.4         60903-61038
            1071-1200           AC009309.4         61853-61982
            1201-1215           AC009309.4         67000-67014
            1216-1439           AC009309.4         69054-69277
            1440-1571           AC009309.4         72741-72872
            1572-1701           AC009309.4         74377-74506
            1702-2647           AC009309.4         75693-76638
FEATURES             Location/Qualifiers
     source          1..2647
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..2647
                     /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..2315
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="isoform 11 is encoded by transcript variant 18;
                     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 11"
                     /protein_id="NP_001387037.1"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
                     /translation="MLRACQLSGVTAAAQSCLCGKFVLRPLRPCRRYSTSGSSGLTTG
                     KIAGAGLLFVGGGIGGTILYAKWDSHFRESVEKTIPYSDKLFEMVLGPAAYNVPLPKK
                     SIQSGPLKISSVSEVMKESKQPASQLQKQKGDTPASATGDTLSVPAPAVQPEESLKTD
                     HPEIGEGKPTPALSEEASSSSIRERPPEEVAARLAQQEKQEQVKIESKSLEDALRQTA
                     SVTLQAIAAQNAAVQAVNAHSNILKAAMDNSEIAGEKKSAQWRTVEGALKERRKAVDE
                     AADALLKAKEELEKMKSVIENAKKKEVAGAKPHITAAEGKLHNMIVDLDNVVKKVQAA
                     QSEAKVVSQYHELVVQARDDFKRELDSITPEVLPGWKGMSVSDLADKLSTDDLNSLIA
                     HAHRRIDQLNRELAEQKATEKQHITLALEKQKLEEKRAFDSAVAKALEHHRSEIQAEQ
                     DRKIEEVRDAMENEMRTQLRRQAAAHTDHLRDVLRVQEQELKSEFEQNLSEKLSEQEL
                     QFRRLSQEQVDNFTLDINTAYARLRGIEQAVQSHAVAEEEARKAHQLWLSVEALKYSM
                     KTSSAETPTIPLGSAVEAIKANCSDNEFTQALTAAIPPESLTRGVYSEETLRARFYAV
                     QKLARRVAMIDETRNSLYQYFLSYLQSLLLFPPQQLKPPPELCPEDINTFKLLSYASY
                     CIEHGDLELAAKFVNQLKGESRRVAQDWLKEARMTLETKQIVEILTAYASAVGIGTTQ
                     VQPE"
     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..603
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            604..699
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            700..830
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            831..934
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1070
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1200
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1215
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1439
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1571
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1701
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..2647
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2627..2632
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /note="hexamer: AATAAA"
     polyA_site      2647
                     /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 ggtgataccc tgtcggtccc agcccctgca gttcagcctg
      541 aggaatcttt aaaaactgat caccctgaaa ttggtgaagg aaaacccaca cctgcacttt
      601 cagaagaagc atcctcatct tctataaggg agcgaccacc tgaagaagtt gcagctcgcc
      661 ttgcacaaca ggaaaaacaa gaacaagtta aaattgagtc caagagctta gaagatgctc
      721 tgaggcaaac tgcaagtgtc actctgcagg ctattgcagc tcagaatgct gcggtccagg
      781 ctgtcaatgc acactccaac atattgaaag ccgccatgga caattctgag attgcaggcg
      841 agaagaaatc tgctcagtgg cgcacagtgg agggtgcatt gaaggaacgc agaaaggcag
      901 tagatgaagc tgccgatgcc cttctcaaag ccaaagaaga gttagagaag atgaaaagtg
      961 tgattgaaaa tgcaaagaaa aaagaggttg ctggggccaa gcctcatata actgctgcag
     1021 agggtaaact tcacaacatg atagttgatc tggataatgt ggtcaaaaag gtccaagcag
     1081 ctcagtctga ggctaaggtt gtatctcagt atcatgagct ggtggtccaa gctcgggatg
     1141 actttaaacg agagctggac agtattactc cagaagtcct tcctgggtgg aaaggaatga
     1201 gtgtttcaga cttagctgac aagctctcta ctgatgatct gaactccctc attgctcatg
     1261 cacatcgtcg tattgatcag ctgaacagag agctggcaga acagaaggcc accgaaaagc
     1321 agcacatcac gttagccttg gagaaacaaa agctggaaga aaagcgggca tttgactctg
     1381 cagtagcaaa agcattagaa catcacagaa gtgaaataca ggctgaacag gacagaaaga
     1441 tagaagaagt cagagatgcc atggaaaatg aaatgagaac ccagcttcgc cgacaggcag
     1501 ctgcccacac tgatcacttg cgagatgtcc ttagggtaca agaacaggaa ttgaagtctg
     1561 aatttgagca gaacctgtct gagaaactct ctgaacaaga attacaattt cgtcgtctca
     1621 gtcaagagca agttgacaac tttactctgg atataaatac tgcctatgcc agactcagag
     1681 gaatcgaaca ggctgttcag agccatgcag ttgctgaaga ggaagccaga aaagcccacc
     1741 aactctggct ttcagtggag gcattaaagt acagcatgaa gacctcatct gcagaaacac
     1801 ctactatccc gctgggtagt gcagttgagg ccatcaaagc caactgttct gataatgaat
     1861 tcacccaagc tttaaccgca gctatccctc cagagtccct gacccgtggg gtgtacagtg
     1921 aagagaccct tagagcccgt ttctatgctg ttcaaaaact ggcccgaagg gtagcaatga
     1981 ttgatgaaac cagaaatagc ttgtaccagt acttcctctc ctacctacag tccctgctcc
     2041 tattcccacc tcagcaactg aagccgcccc cagagctctg ccctgaggat ataaacacat
     2101 ttaaattact gtcatatgct tcctattgca ttgagcatgg tgatctggag ctagcagcaa
     2161 agtttgtcaa tcagctgaag ggggaatcca gacgagtggc acaggactgg ctgaaggaag
     2221 cccgaatgac cctagaaacg aaacagatag tggaaatcct gacagcatat gccagcgccg
     2281 taggaatagg aaccactcag gtgcagccag agtgaggttt aggaagattt tcataaagtc
     2341 atatttcatg tcaaaggaaa tcagcagtga tagatgaagg gttcgcagcg agagtcccgg
     2401 acttgtctag aaatgagcag gtttacaagt actgttctaa atgttaacac ctgttgcatt
     2461 tatattcttt ccatttgcta tcatgtcagt gaacgccagg agtgctttct ttgcaacttg
     2521 tgtaacattt tctgtttttt caggttttac tgatgaggct tgtgaggcca atcaaaataa
     2581 tgtttgtgat ctctactact gttgattttg ccctcggagc aaactgaata aagcaacaag
     2641 atgaaaa
//
