LOCUS       NM_205767                516 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial contact site and cristae organizing
            system subunit 13 (MICOS13), transcript variant 2, mRNA.
ACCESSION   NM_205767 XM_058957
VERSION     NM_205767.3
KEYWORDS    RefSeq; MANE Select.
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 516)
  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   2  (bases 1 to 516)
  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   3  (bases 1 to 516)
  AUTHORS   Kishita,Y., Shimura,M., Kohda,M., Akita,M., Imai-Okazaki,A.,
            Yatsuka,Y., Nakajima,Y., Ito,T., Ohtake,A., Murayama,K. and
            Okazaki,Y.
  TITLE     A novel homozygous variant in MICOS13/QIL1 causes
            hepato-encephalopathy with mitochondrial DNA depletion syndrome
  JOURNAL   Mol Genet Genomic Med 8 (10), e1427 (2020)
   PUBMED   32749073
REFERENCE   4  (bases 1 to 516)
  AUTHORS   Stephan,T., Bruser,C., Deckers,M., Steyer,A.M., Balzarotti,F.,
            Barbot,M., Behr,T.S., Heim,G., Hubner,W., Ilgen,P., Lange,F.,
            Pacheu-Grau,D., Pape,J.K., Stoldt,S., Huser,T., Hell,S.W.,
            Mobius,W., Rehling,P., Riedel,D. and Jakobs,S.
  TITLE     MICOS assembly controls mitochondrial inner membrane remodeling and
            crista junction redistribution to mediate cristae formation
  JOURNAL   EMBO J 39 (14), e104105 (2020)
   PUBMED   32567732
REFERENCE   5  (bases 1 to 516)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 516)
  AUTHORS   Zeharia,A., Friedman,J.R., Tobar,A., Saada,A., Konen,O., Fellig,Y.,
            Shaag,A., Nunnari,J. and Elpeleg,O.
  TITLE     Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13
            (C19orf70), a MICOS complex subunit
  JOURNAL   Eur J Hum Genet 24 (12), 1778-1782 (2016)
   PUBMED   27485409
  REMARK    GeneRIF: Mitochondrial hepato-encephalopathy patients were found to
            be homozygous for the p.(Gly15Glufs*75) variant in the QIL1 .  QIL1
            deficiency is associated with disassembly of the MICOS complex,
            aberration of cristae morphology and mitochondrial respiratory
            dysfunction.
REFERENCE   7  (bases 1 to 516)
  AUTHORS   Anand,R., Strecker,V., Urbach,J., Wittig,I. and Reichert,A.S.
  TITLE     Mic13 Is Essential for Formation of Crista Junctions in Mammalian
            Cells
  JOURNAL   PLoS One 11 (8), e0160258 (2016)
   PUBMED   27479602
  REMARK    GeneRIF: MIC13 has a fundamental role in crista junction formation
            and that assembly of respiratory chain supercomplexes is
            independent of mitochondrial cristae shape.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 516)
  AUTHORS   Lee,S.Y., Kang,M.G., Park,J.S., Lee,G., Ting,A.Y. and Rhee,H.W.
  TITLE     APEX Fingerprinting Reveals the Subcellular Localization of
            Proteins of Interest
  JOURNAL   Cell Rep 15 (8), 1837-1847 (2016)
   PUBMED   27184847
REFERENCE   9  (bases 1 to 516)
  AUTHORS   Huynen,M.A., Muhlmeister,M., Gotthardt,K., Guerrero-Castillo,S. and
            Brandt,U.
  TITLE     Evolution and structural organization of the mitochondrial contact
            site (MICOS) complex and the mitochondrial intermembrane space
            bridging (MIB) complex
  JOURNAL   Biochim Biophys Acta 1863 (1), 91-101 (2016)
   PUBMED   26477565
REFERENCE   10 (bases 1 to 516)
  AUTHORS   Guarani,V., McNeill,E.M., Paulo,J.A., Huttlin,E.L., Frohlich,F.,
            Gygi,S.P., Van Vactor,D. and Harper,J.W.
  TITLE     QIL1 is a novel mitochondrial protein required for MICOS complex
            stability and cristae morphology
  JOURNAL   Elife 4, e06265 (2015)
   PUBMED   25997101
  REMARK    GeneRIF: we identified QIL1 (C19orf70) as a novel conserved MICOS
            subunit.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC009557.1.
            
            On Feb 3, 2020 this sequence version replaced NM_205767.2.
            
            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 :: CD580443.2, BC009557.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000309324.9/
                                                  ENSP00000309561.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-516               BC009557.1         15-530
FEATURES             Location/Qualifiers
     source          1..516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..516
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /note="mitochondrial contact site and cristae organizing
                     system subunit 13"
                     /db_xref="GeneID:125988"
                     /db_xref="HGNC:HGNC:33702"
                     /db_xref="MIM:616658"
     exon            1..59
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..387
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; protein QIL1; MICOS complex subunit MIC13"
                     /codon_start=1
                     /product="MICOS complex subunit MIC13 isoform 2 precursor"
                     /protein_id="NP_991330.1"
                     /db_xref="CCDS:CCDS12143.1"
                     /db_xref="GeneID:125988"
                     /db_xref="HGNC:HGNC:33702"
                     /db_xref="MIM:616658"
                     /translation="MVARVWSLMRFLIKGSVAGGAVYLVYDQELLGPSDKSQAALQKA
                     GEVVPPAMYQFSQYVCQQTGLQIPQLPAPPKIYFPIRDSWNAGIMTVMSALSVAPSKA
                     REYSKEGWEYVKARTK"
     exon            60..237
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /inference="alignment:Splign:2.1.0"
     exon            238..289
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /inference="alignment:Splign:2.1.0"
     exon            290..516
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      497..502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /note="hexamer: AATAAA"
     polyA_site      516
                     /gene="MICOS13"
                     /gene_synonym="C19orf70; MIC12; MIC13; P117; QIL1"
                     /note="major polyA site"
ORIGIN      
        1 gagtgtcctt gcgcgtggat ccgagcgacc atggtggccc gggtgtggtc gctgatgagg
       61 ttcctcatca agggaagtgt ggctgggggc gccgtctacc tggtgtacga ccaggagctg
      121 ctggggccca gcgacaagag ccaggcagcc ctacagaagg ctggggaggt ggtccccccc
      181 gccatgtacc agttcagcca gtacgtgtgt cagcagacag gcctgcagat accccagctc
      241 ccagcccctc caaagattta ctttcccatc cgtgactcct ggaatgcagg catcatgacg
      301 gtgatgtcag ctctgtcggt ggccccctcc aaggcccgcg agtactccaa ggagggctgg
      361 gagtatgtga aggcgcgcac caagtagcga gtcagcaggg gccgcctgcc ccggccagaa
      421 cgggcagggc tgccactgac ctgaagactc cggactggga ccccactccg agggcagctc
      481 ccggccttgc cggcccaata aaggacttca gaagtg
//
