LOCUS       NM_001317178            1119 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing
            3 (CHCHD3), transcript variant 3, mRNA.
ACCESSION   NM_001317178 XM_011516364
VERSION     NM_001317178.2
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 1119)
  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 1119)
  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 1119)
  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 1119)
  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 1119)
  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 1119)
  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 1119)
  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 1119)
  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 1119)
  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 1119)
  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, AK294071.1 and
            AC008038.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001317178.1.
            
            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 (3) differs in the 3' UTR and
            coding sequence and lacks an alternate in-frame exon compared to
            variant 1. The resulting isoform (3) has a shorter and distinct
            C-terminus and lacks an internal segment compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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##
            Transcript exon combination :: AK294071.1, BM906337.1 [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
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                DC385940.1         69-118
            51-486              AK294071.1         1-436
            487-487             AC008038.1         109830-109830       c
            488-606             AK294071.1         438-556
            607-607             AC008038.1         108566-108566       c
            608-948             AK294071.1         558-898
            949-1119            AC008038.1         108054-108224       c
FEATURES             Location/Qualifiers
     source          1..1119
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.3-q33"
     gene            1..1119
                     /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"
     CDS             154..570
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /note="isoform 3 is encoded by transcript variant 3;
                     coiled-coil-helix-coiled-coil-helix domain-containing
                     protein 3, mitochondrial; mitochondrial inner membrane
                     organizing system 3; protein phosphatase 1, regulatory
                     subunit 22; MICOS complex subunit MIC19; mitochondrial
                     contact site and cristae organizing system subunit 19"
                     /codon_start=1
                     /product="MICOS complex subunit MIC19 isoform 3"
                     /protein_id="NP_001304107.1"
                     /db_xref="GeneID:54927"
                     /db_xref="HGNC:HGNC:21906"
                     /db_xref="MIM:613748"
                     /translation="MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGS
                     KSQRYSGAYGASVSDEELKRRVAEELALEQAKKESEDQKRLKQAKELDRERAAANEQL
                     TRAILRERICSEEERAKAKHLIKVELLWVKPGVLTA"
     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..1119
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      739..744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /note="hexamer: ACTAAA"
     polyA_site      759
                     /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 tgataaaagt ggagctgctc
      541 tgggtgaaac ctggagtgtt gactgcttag cctccacttc ggccttccta gaaacccaga
      601 tgttactcct cggaaccttt agtcctcatt ggagcacagt tgggaactca ctggacaggg
      661 aaaatgggac catggaatgg agaactttga actgaagagt gagggggatt ttcctagttc
      721 actaggcaat tgggaaacac taaaactttc taagaagaag gctcatttct agtctctccc
      781 attctttacc ttagtcactt ctctgaaaga ccaacccatg accagctgca aacagagaac
      841 atgaaaggaa gtccatgcgt aatgaatcag tttcttcagt gacaaatctg gggtcccggt
      901 tgcatgggca aatagtgaag ccagaataga ggtggtagac caagaaagaa atgtcagtgg
      961 actgactggc agctgcccta agaacagtac atgtgttgag tggaacaaag ggaataagag
     1021 aggtggaagc aaagtcagtc attgtgaaag gggaataatt tcagaattaa agacagtaag
     1081 ttttgagtaa ctcaactgaa aattaaattt gttgtacgt
//
