LOCUS       NM_213720                700 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing
            10 (CHCHD10), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_213720
VERSION     NM_213720.3
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 700)
  AUTHORS   Yu,X., Jiang,H., Li,J., Ding,J., Chen,K., Ding,Z. and Xu,X.
  TITLE     NDV inhibited IFN-beta secretion through impeding CHCHD10-mediated
            mitochondrial fusion to promote viral proliferation
  JOURNAL   Vet Microbiol 290, 109973 (2024)
   PUBMED   38211361
  REMARK    GeneRIF: NDV inhibited IFN-beta secretion through impeding
            CHCHD10-mediated mitochondrial fusion to promote viral
            proliferation.
REFERENCE   2  (bases 1 to 700)
  AUTHORS   Liu,T., Wetzel,L., Zhu,Z., Kumaraguru,P., Gorthi,V., Yan,Y.,
            Bukhari,M.Z., Ermekbaeva,A., Jeon,H., Kee,T.R., Woo,J.A. and
            Kang,D.E.
  TITLE     Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by
            CHCHD10 Mutations or CHCHD10 Depletion
  JOURNAL   Cells 12 (24), 2781 (2023)
   PUBMED   38132101
  REMARK    GeneRIF: Disruption of Mitophagy Flux through the PARL-PINK1
            Pathway by CHCHD10 Mutations or CHCHD10 Depletion.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 700)
  AUTHORS   Alici,H., Uversky,V.N., Kang,D.E., Woo,J.A. and Coskuner-Weber,O.
  TITLE     Effects of the Jokela type of spinal muscular atrophy-related G66V
            mutation on the structural ensemble characteristics of CHCHD10
  JOURNAL   Proteins 91 (6), 739-749 (2023)
   PUBMED   36625206
  REMARK    GeneRIF: Effects of the Jokela type of spinal muscular
            atrophy-related G66V mutation on the structural ensemble
            characteristics of CHCHD10.
REFERENCE   4  (bases 1 to 700)
  AUTHORS   Chaussenot,A., Le Ber,I., Ait-El-Mkadem,S., Camuzat,A., de
            Septenville,A., Bannwarth,S., Genin,E.C., Serre,V., Auge,G.,
            Brice,A., Pouget,J. and Paquis-Flucklinger,V.
  CONSRTM   French research network on FTD and FTD-ALS
  TITLE     Screening of CHCHD10 in a French cohort confirms the involvement of
            this gene in frontotemporal dementia with amyotrophic lateral
            sclerosis patients
  JOURNAL   Neurobiol Aging 35 (12), 2884 (2014)
   PUBMED   25155093
  REMARK    GeneRIF: CHCHD10 encodes a protein located in the mitochondrial
            intermembrane space and is likely involved in mitochondrial genome
            stability and maintenance of cristae junctions.
REFERENCE   5  (bases 1 to 700)
  AUTHORS   Bannwarth,S., Ait-El-Mkadem,S., Chaussenot,A., Genin,E.C.,
            Lacas-Gervais,S., Fragaki,K., Berg-Alonso,L., Kageyama,Y.,
            Serre,V., Moore,D.G., Verschueren,A., Rouzier,C., Le Ber,I.,
            Auge,G., Cochaud,C., Lespinasse,F., N'Guyen,K., de Septenville,A.,
            Brice,A., Yu-Wai-Man,P., Sesaki,H., Pouget,J. and
            Paquis-Flucklinger,V.
  TITLE     A mitochondrial origin for frontotemporal dementia and amyotrophic
            lateral sclerosis through CHCHD10 involvement
  JOURNAL   Brain 137 (Pt 8), 2329-2345 (2014)
   PUBMED   24934289
  REMARK    GeneRIF: Mitochondrial disease (CHCHD10 mutation) may be at the
            origins of some frontotemporal dementia and amyotrophic lateral
            sclerosis phenotypes.
REFERENCE   6  (bases 1 to 700)
  AUTHORS   Chen,H.Y., Zhu,B.H., Zhang,C.H., Yang,D.J., Peng,J.J., Chen,J.H.,
            Liu,F.K. and He,Y.L.
  TITLE     High CpG island methylator phenotype is associated with lymph node
            metastasis and prognosis in gastric cancer
  JOURNAL   Cancer Sci 103 (1), 73-79 (2012)
   PUBMED   22017425
REFERENCE   7  (bases 1 to 700)
  AUTHORS   Martherus,R.S., Sluiter,W., Timmer,E.D., VanHerle,S.J., Smeets,H.J.
            and Ayoubi,T.A.
  TITLE     Functional annotation of heart enriched mitochondrial genes GBAS
            and CHCHD10 through guilt by association
  JOURNAL   Biochem Biophys Res Commun 402 (2), 203-208 (2010)
   PUBMED   20888800
  REMARK    GeneRIF: CHCHD10 and GBAS are involved in oxidative
            phosphorylation; CHCHD10 plays role in complex IV activity.
            GeneRIF: Functional annotation of CHCHD10 as mitochondrial protein
            with function related to cytochrome-c-oxidase (complex IV)
            activity.
REFERENCE   8  (bases 1 to 700)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 700)
  AUTHORS   Ait-El-Mkadem Saadi,S., Chaussenot,A., Bannwarth,S., Rouzier,C. and
            Paquis-Flucklinger,V.
  TITLE     CHCHD10-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26131548
REFERENCE   10 (bases 1 to 700)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB112856.1 and BC065232.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_213720.2.
            
            Summary: This gene encodes a mitochondrial protein that is enriched
            at cristae junctions in the intermembrane space. It may play a role
            in cristae morphology maintenance or oxidative phosphorylation.
            Mutations in this gene cause frontotemporal dementia and/or
            amyotrophic lateral sclerosis-2. Alternative splicing of this gene
            results in multiple transcript variants. Related pseudogenes have
            been identified on chromosomes 7 and 19. [provided by RefSeq, Aug
            2014].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1,
            resulting in an isoform (b) that is shorter than isoform a.
            
            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 :: BC065232.1, BQ894168.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2152568
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 24934289; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000484558.3/
                                                  ENSP00000418428.3
            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
            1-18                CB112856.1         1-18
            19-700              BC065232.1         1-682
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..700
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /note="coiled-coil-helix-coiled-coil-helix domain
                     containing 10"
                     /db_xref="GeneID:400916"
                     /db_xref="HGNC:HGNC:15559"
                     /db_xref="MIM:615903"
     exon            1..139
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..527
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; coiled-coil-helix-coiled-coil-helix
                     domain-containing protein 10, mitochondrial; MIX17 homolog
                     A"
                     /codon_start=1
                     /product="coiled-coil-helix-coiled-coil-helix
                     domain-containing protein 10, mitochondrial isoform b
                     precursor"
                     /protein_id="NP_998885.1"
                     /db_xref="CCDS:CCDS13815.1"
                     /db_xref="GeneID:400916"
                     /db_xref="HGNC:HGNC:15559"
                     /db_xref="MIM:615903"
                     /translation="MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGL
                     MAQMATTAAGVAVGSAVGHVMGSALTGAFSGGSSEPSQPAVQQAPTPAAPQPLQMGPC
                     AYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP"
     exon            140..359
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /inference="alignment:Splign:2.1.0"
     exon            360..507
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /inference="alignment:Splign:2.1.0"
     exon            508..700
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      677..682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /note="hexamer: ATTAAA"
     polyA_site      700
                     /gene="CHCHD10"
                     /gene_synonym="C22orf16; FTDALS2; IMMD; MIX17A; N27C7-4;
                     SMAJ"
                     /note="major polyA site"
ORIGIN      
        1 cttttttgcg ccggctgtga caagcgctgc ggcatttgtc cccgcgacag caccgctgcc
       61 gccgtctcta aggtcgcccg ggtcccaccg ccgccaccat gcctcgggga agccgcagcg
      121 cggcctcccg gccagccagc cgcccagccg cgccctctgc ccacccgccc gcgcacccac
      181 cgccctcggc agccgcccca gcccccgccc cttcgggcca gccggggctc atggctcaga
      241 tggcgaccac ggccgcaggg gtagccgtgg gctcggctgt gggacacgtc atgggcagcg
      301 ccctgaccgg agccttcagc ggggggagct cggagccctc ccagcctgct gtccagcagg
      361 cccccacccc cgctgccccc cagcccctgc agatggggcc ctgcgcctac gagatcaggc
      421 agttcctgga ctgttccacc actcagagtg acctgtccct gtgtgagggc ttcagcgagg
      481 ccctgaagca gtgcaagtac taccatggtc tgagctccct gccctgaaga ggtcggtgca
      541 gactcggggg ccagtcctgc acccacctct acccctcgcc gacagccaga ccacaacacc
      601 agattgtacc cagatagctg ggattggaag tgaggaggtt tctcacccca cagataaccc
      661 aagacacaaa tgtgcaatta aaagtttatt ttagaccaca
//
