LOCUS       NM_017812               1604 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing
            3 (CHCHD3), transcript variant 2, mRNA.
ACCESSION   NM_017812
VERSION     NM_017812.4
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 1604)
  AUTHORS   Pintacuda,G., Hsu,Y.H., Tsafou,K., Li,K.W., Martin,J.M.,
            Riseman,J., Biagini,J.C., Ching,J.K.T., Mena,D.,
            Gonzalez-Lozano,M.A., Egri,S.B., Jaffe,J., Smit,A.B., Fornelos,N.,
            Eggan,K.C. and Lage,K.
  TITLE     Protein interaction studies in human induced neurons indicate
            convergent biology underlying autism spectrum disorders
  JOURNAL   Cell Genom 3 (3), 100250 (2023)
   PUBMED   36950384
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1604)
  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   3  (bases 1 to 1604)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1604)
  AUTHORS   Hu,C., Shu,L., Huang,X., Yu,J., Li,L., Gong,L., Yang,M., Wu,Z.,
            Gao,Z., Zhao,Y., Chen,L. and Song,Z.
  TITLE     OPA1 and MICOS Regulate mitochondrial crista dynamics and formation
  JOURNAL   Cell Death Dis 11 (10), 940 (2020)
   PUBMED   33130824
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1604)
  AUTHORS   Darshi,M., Mendiola,V.L., Mackey,M.R., Murphy,A.N., Koller,A.,
            Perkins,G.A., Ellisman,M.H. and Taylor,S.S.
  TITLE     ChChd3, an inner mitochondrial membrane protein, is essential for
            maintaining crista integrity and mitochondrial function
  JOURNAL   J Biol Chem 286 (4), 2918-2932 (2011)
   PUBMED   21081504
  REMARK    GeneRIF: ChChd3 is a scaffolding protein that stabilizes protein
            complexes involved in maintaining crista architecture and protein
            import and is thus essential for maintaining mitochondrial
            structure and function.
REFERENCE   6  (bases 1 to 1604)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1604)
  AUTHORS   Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
            Nicolaescu,E., Lesage,B. and Bollen,M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   8  (bases 1 to 1604)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (bases 1 to 1604)
  AUTHORS   Xie,J., Marusich,M.F., Souda,P., Whitelegge,J. and Capaldi,R.A.
  TITLE     The mitochondrial inner membrane protein mitofilin exists as a
            complex with SAM50, metaxins 1 and 2, coiled-coil-helix
            coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11
  JOURNAL   FEBS Lett 581 (18), 3545-3549 (2007)
   PUBMED   17624330
  REMARK    GeneRIF: mitofilin helps regulate mitochondrial morphology and at
            least four of the associated proteins (metaxins 1 and 2, SAM50 and
            CHCHD3) have been implicated in protein import
REFERENCE   10 (bases 1 to 1604)
  AUTHORS   Nousiainen,M., Sillje,H.H., Sauer,G., Nigg,E.A. and Korner,R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC385940.1 and BC014839.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017812.3.
            
            Summary: The protein encoded by this gene is an inner mitochondrial
            membrane scaffold protein. Absence of the encoded protein affects
            the structural integrity of mitochondrial cristae and leads to
            reductions in ATP production, cell growth, and oxygen consumption.
            This protein is part of the mitochondrial contact site and cristae
            organizing system (MICOS). Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2015].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            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 :: SRR3476690.848083.1,
                                           SRR5189655.137554.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 17624330, 21081504;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000262570.10/
                                                  ENSP00000262570.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DC385940.1         69-76
            9-1604              BC014839.1         1-1596
FEATURES             Location/Qualifiers
     source          1..1604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.3-q33"
     gene            1..1604
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /note="coiled-coil-helix-coiled-coil-helix domain
                     containing 3"
                     /db_xref="GeneID:54927"
                     /db_xref="HGNC:HGNC:21906"
                     /db_xref="MIM:613748"
     exon            1..234
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     exon            235..322
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     exon            323..404
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     exon            405..522
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     exon            523..606
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     exon            607..677
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     exon            678..813
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     exon            814..1604
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1587..1592
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /note="hexamer: AATATA"
     polyA_site      1604
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /note="major polyA site"
ORIGIN      
        1 aggaccggcg ccttctcctt gcttctgggg gtcgtggcct tgctcccgct gtgcgggaaa
       61 agaatccagg cccttccacg cgcgtgtggg tgcgggggcc ccgaagtgct cgtggttccc
      121 cgctaggtct ccgctggggc aggaaccgga atcatgggtg ggaccaccag cacccgccgg
      181 gtcaccttcg aggcggacga gaatgagaac atcaccgtgg tgaagggcat ccggctttcg
      241 gaaaatgtga ttgatcgaat gaaggaatcc tctccatctg gttcgaagtc tcagcggtat
      301 tctggtgctt atggtgcctc agtttctgat gaagaattga aaagaagagt agctgaggag
      361 ctggcattgg agcaagccaa gaaagaatcc gaagatcaga aacgactaaa gcaagccaaa
      421 gagctggacc gagagagggc tgctgccaat gagcagttaa ccagagccat ccttcgggag
      481 aggatatgta gcgaggagga acgcgctaag gcaaagcacc tggctaggca gctggaagag
      541 aaagaccgag tgctaaagaa gcaggatgca ttctacaaag aacagctggc tagactggag
      601 gagaggagct cagagttcta cagagtcacc actgaacaat atcagaaagc tgctgaagag
      661 gtggaagcaa agttcaagcg atatgagtct catccagtct gtgctgatct gcaggccaaa
      721 attcttcagt gttaccgtga gaacacccac cagaccctca aatgctccgc tctggccacc
      781 cagtatatgc actgtgtcaa tcatgccaaa cagagcatgc ttgagaaggg aggataaaaa
      841 ctttcagaat gagcaaaaca ccatcaacgt taattccaga gatggaacat tttttttcct
      901 agtgagaaaa caacccattt gaagagaaga ccactaatga gaagaccact aaagagagac
      961 atcaagaatg gattcagcag aatcatttca cgttttgaac agcagcagtt tgaagggcca
     1021 aagccttgat cagggatcag tcattaaagg acactcttga gtattagtaa accctcttat
     1081 gatgattaaa agagaagggc agccctctcc accttttggt actttctatt caacttgcac
     1141 tgaccataaa atgtttctct tctgaacaag ccccatcatt tggtgaacct ccaccctaac
     1201 aaagtaggat ggggttgggg gctaaattaa ttggagtggg gcgaggagag agccagaaaa
     1261 catagatccg agggcagcag tgctgggtgg agagagccag aaaacagatc tggaggcagc
     1321 agtgctggat ggaattgtct aggctgtggc atgttggttt tgtctttctt ttctcctttg
     1381 attatgtaag agctatttca ttataactta ttatggtgat tatacaggca agaagacaaa
     1441 aaggagagaa aatgtacctc ttctactgga ataatgttta tgattacaag tgagataagg
     1501 tatttttatc aatatgaagg caaccttggc tgataaaacc tctatagtga atactcacat
     1561 ctttacttca ctcactatca ataataaata tattttctga caaa
//
