LOCUS       NM_024122               1122 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.
ACCESSION   NM_024122
VERSION     NM_024122.5
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 1122)
  AUTHORS   Peifer-Weiss,L., Kurban,M., David,C., Lubeck,M., Kondadi,A.K.,
            Nemer,G., Reichert,A.S. and Anand,R.
  TITLE     A X-linked nonsense APOO/MIC26 variant causes a lethal
            mitochondrial disease with progeria-like phenotypes
  JOURNAL   Clin Genet 104 (6), 659-668 (2023)
   PUBMED   37649161
  REMARK    GeneRIF: A X-linked nonsense APOO/MIC26 variant causes a lethal
            mitochondrial disease with progeria-like phenotypes.
REFERENCE   2  (bases 1 to 1122)
  AUTHORS   Liu,Y., Xiong,Z., Zhou,W., Chen,Y., Huang,Q. and Wu,Y.
  TITLE     Role of apolipoprotein O in autophagy via the p38 mitogen-activated
            protein kinase signaling pathway in myocardial infarction
  JOURNAL   Clinics (Sao Paulo) 77, 100046 (2022)
   PUBMED   35588578
  REMARK    GeneRIF: Role of apolipoprotein O in autophagy via the p38
            mitogen-activated protein kinase signaling pathway in myocardial
            infarction.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1122)
  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   4  (bases 1 to 1122)
  AUTHORS   Beninca,C., Zanette,V., Brischigliaro,M., Johnson,M., Reyes,A.,
            Valle,D.A.D., J Robinson,A., Degiorgi,A., Yeates,A., Telles,B.A.,
            Prudent,J., Baruffini,E., S F Santos,M.L., R de Souza,R.L.,
            Fernandez-Vizarra,E., Whitworth,A.J. and Zeviani,M.
  TITLE     Mutation in the MICOS subunit gene APOO (MIC26) associated with an
            X-linked recessive mitochondrial myopathy, lactic acidosis,
            cognitive impairment and autistic features
  JOURNAL   J Med Genet 58 (3), 155-167 (2021)
   PUBMED   32439808
  REMARK    GeneRIF: Mutation in the MICOS subunit gene APOO (MIC26) associated
            with an X-linked recessive mitochondrial myopathy, lactic acidosis,
            cognitive impairment and autistic features.
REFERENCE   5  (bases 1 to 1122)
  AUTHORS   Anand,R., Kondadi,A.K., Meisterknecht,J., Golombek,M., Nortmann,O.,
            Riedel,J., Peifer-Weiss,L., Brocke-Ahmadinejad,N., Schlutermann,D.,
            Stork,B., Eichmann,T.O., Wittig,I. and Reichert,A.S.
  TITLE     MIC26 and MIC27 cooperate to regulate cardiolipin levels and the
            landscape of OXPHOS complexes
  JOURNAL   Life Sci Alliance 3 (10), e202000711 (2020)
   PUBMED   32788226
  REMARK    GeneRIF: MIC26 and MIC27 cooperate to regulate cardiolipin levels
            and the landscape of OXPHOS complexes.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1122)
  AUTHORS   Zhao,X., Leon,I.R., Bak,S., Mogensen,M., Wrzesinski,K., Hojlund,K.
            and Jensen,O.N.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   7  (bases 1 to 1122)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 1122)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1122)
  AUTHORS   Chapuis,J., Hot,D., Hansmannel,F., Kerdraon,O., Ferreira,S.,
            Hubans,C., Maurage,C.A., Huot,L., Bensemain,F., Laumet,G.,
            Ayral,A.M., Fievet,N., Hauw,J.J., DeKosky,S.T., Lemoine,Y.,
            Iwatsubo,T., Wavrant-Devrieze,F., Dartigues,J.F., Tzourio,C.,
            Buee,L., Pasquier,F., Berr,C., Mann,D., Lendon,C., Alperovitch,A.,
            Kamboh,M.I., Amouyel,P. and Lambert,J.C.
  TITLE     Transcriptomic and genetic studies identify IL-33 as a candidate
            gene for Alzheimer's disease
  JOURNAL   Mol Psychiatry 14 (11), 1004-1016 (2009)
   PUBMED   19204726
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1122)
  AUTHORS   Lamant,M., Smih,F., Harmancey,R., Philip-Couderc,P., Pathak,A.,
            Roncalli,J., Galinier,M., Collet,X., Massabuau,P., Senard,J.M. and
            Rouet,P.
  TITLE     ApoO, a novel apolipoprotein, is an original glycoprotein
            up-regulated by diabetes in human heart
  JOURNAL   J Biol Chem 281 (47), 36289-36302 (2006)
   PUBMED   16956892
  REMARK    GeneRIF: apolipoprotein O is the first chondroitin sulfate chain
            containing apolipoprotein
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079376.26 and BC010102.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_024122.4.
            
            Summary: This gene is a member of the apolipoprotein family.
            Members of this protein family are involved in the transport and
            metabolism of lipids. The encoded protein associates with HDL, LDL
            and VLDL lipoproteins and is characterized by chondroitin-sulfate
            glycosylation. This protein may be involved in preventing lipid
            accumulation in the myocardium in obese and diabetic patients.
            Alternative splicing results in multiple transcript variants.
            Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and
            16.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and is predicted to encode the functional protein.
            
            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 :: BC002333.2, SRR5189652.85266.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379226.9/ ENSP00000368528.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AC079376.26        118419-118439
            22-1122             BC010102.2         4-1104
FEATURES             Location/Qualifiers
     source          1..1122
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.11"
     gene            1..1122
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /note="apolipoprotein O"
                     /db_xref="GeneID:79135"
                     /db_xref="HGNC:HGNC:28727"
                     /db_xref="MIM:300753"
     exon            1..245
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     CDS             237..833
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /note="family with sequence similarity 121B; brain my025;
                     MICOS complex subunit MIC23; MICOS complex subunit MIC26;
                     mitochondrial contact site and cristae organizing system
                     subunit 26"
                     /codon_start=1
                     /product="MICOS complex subunit MIC26 precursor"
                     /protein_id="NP_077027.1"
                     /db_xref="CCDS:CCDS14208.1"
                     /db_xref="GeneID:79135"
                     /db_xref="HGNC:HGNC:28727"
                     /db_xref="MIM:300753"
                     /translation="MFKVIQRSVGPASLSLLTFKVYAAPKKDSPPKNSVKVDELSLYS
                     VPEGQSKYVEEARSQLEESISQLRHYCEPYTTWCQETYSQTKPKMQSLVQWGLDSYDY
                     LQNAPPGFFPRLGVIGFAGLIGLLLARGSKIKKLVYPPGFMGLAASLYYPQQAIVFAQ
                     VSGERLYDWGLRGYIVIEDLWKENFQKPGNVKNSPGTK"
     exon            246..353
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     exon            354..473
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     exon            474..528
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     exon            529..624
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     exon            625..716
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     exon            717..797
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     exon            798..862
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1122
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1103
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /note="major polyA site"
ORIGIN      
        1 gtttgcgttc acccgctgcc cgggcgcgac gcgctgcggc tcagcgacgc ggcttctaga
       61 accgggtgat tgaactaaac cttcgccgca ccgagtttgc agtacggccg tcacccgcac
      121 cgctgcctgc ttgcggttgg agaaatcaag gccctaccgg gcctccgtag tcacctctct
      181 atagtgggcg tggccgaggc cggggtgacc ctgccggagc ctccgctgcc agcgacatgt
      241 tcaaggtaat tcagaggtcc gtggggccag ccagcctgag cttgctcacc ttcaaagtct
      301 atgcagcacc aaaaaaggac tcacctccca aaaattccgt gaaggttgat gagctttcac
      361 tctactcagt tcctgagggt caatcgaagt atgtggagga ggcaaggagc cagcttgaag
      421 aaagcatctc acagctccga cactattgcg agccatacac aacctggtgt caggaaacgt
      481 actcccaaac taagcccaag atgcaaagtt tggttcaatg ggggttagac agctatgact
      541 atctccaaaa tgcacctcct ggattttttc cgagacttgg tgttattggt tttgctggcc
      601 ttattggact ccttttggct agaggttcaa aaataaagaa gctagtgtat ccgcctggtt
      661 tcatgggatt agctgcctcc ctctattatc cacaacaagc catcgtgttt gcccaggtca
      721 gtggggagag attatatgac tggggtttac gaggatatat agtcatagaa gatttgtgga
      781 aggagaactt tcaaaagcca ggaaatgtga agaattcacc tggaactaag tagaaaactc
      841 catgctctgc catcttaatc agttataggt aaacattgga aactccatag aataaatcag
      901 tatttctaca gaaaaatggc atagaagtca gtattgaatg tattaaattg gctttcttct
      961 tcaggaaaaa ctagaccaga cctctgttat cttctgtgaa atcatcctac aagcaaacta
     1021 acctggaatc ccttcaccta gagataatgt acaagcctta gaactcctca ttctcatgtt
     1081 gctatttatg tacctaatta aaacccaagt taaaaaaaaa aa
//
