LOCUS       NM_032309                523 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing
            5 (CHCHD5), transcript variant 1, mRNA.
ACCESSION   NM_032309
VERSION     NM_032309.4
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 523)
  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 523)
  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   3  (bases 1 to 523)
  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   4  (bases 1 to 523)
  AUTHORS   Babbar,M., Huang,Y., Curtiss,C.M. and Sheikh,M.S.
  TITLE     CHTM1 regulates cancer cell sensitivity to metabolic stress via
            p38-AIF1 pathway
  JOURNAL   J Exp Clin Cancer Res 38 (1), 271 (2019)
   PUBMED   31221176
  REMARK    GeneRIF: Study reports a novel function of CHTM1 via which CHTM1
            alters lung cancer cell survival under metabolic-stress. For
            example, CHTM1 interacts with AIF1 and affects stress-induced
            cytosol/nuclear translocation of AIF1 as well as cell death. CHTM1
            appears to mediate these effects by negatively regulating the p38
            kinase. Also, CHTM1 is overexpressed in lung cancer patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 523)
  AUTHORS   Babbar,M., Huang,Y., An,J., Landas,S.K. and Sheikh,M.S.
  TITLE     CHTM1, a novel metabolic marker deregulated in human malignancies
  JOURNAL   Oncogene 37 (15), 2052-2066 (2018)
   PUBMED   29371680
  REMARK    GeneRIF: CHTM1 is a novel metabolic marker that is important for
            the growth of tumorigenic cells under limiting nutrient supplies
            and thus, links cellular metabolism and tumorigenesis.
REFERENCE   6  (bases 1 to 523)
  AUTHORS   Wu,L., Gao,L., Zhao,X., Zhang,M., Wu,J. and Mi,J.
  TITLE     A new risk locus in CHCHD5 for hypertension and obesity in a
            Chinese child population: a cohort study
  JOURNAL   BMJ Open 7 (9), e016241 (2017)
   PUBMED   28893745
  REMARK    GeneRIF: There was a statistically significant association between
            rs3748024 and systolic blood pressure (SBP) under an additive model
            adjusted for age, gender and body mass index (BMI) after correction
            for multiple testing. The SNP was also significantly associated
            with BMI, obesity, and triglycerides.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 523)
  AUTHORS   Banci,L., Bertini,I., Ciofi-Baffoni,S., Jaiswal,D., Neri,S.,
            Peruzzini,R. and Winkelmann,J.
  TITLE     Structural characterization of CHCHD5 and CHCHD7: two atypical
            human twin CX9C proteins
  JOURNAL   J Struct Biol 180 (1), 190-200 (2012)
   PUBMED   22842048
  REMARK    GeneRIF: Molecular interactions guiding the protein recognition
            between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY011716.1, BC004498.2 and AC012442.7.
            
            On Jun 2, 2019 this sequence version replaced NM_032309.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004498.2, BM423469.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324913.10/ ENSP00000325655.5
            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
            1-346               HY011716.1         168-513
            347-417             BC004498.2         497-567
            418-418             AC012442.7         142367-142367
            419-523             BC004498.2         569-673
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.1"
     gene            1..523
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /note="coiled-coil-helix-coiled-coil-helix domain
                     containing 5"
                     /db_xref="GeneID:84269"
                     /db_xref="HGNC:HGNC:17840"
                     /db_xref="MIM:616978"
     exon            1..41
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..372
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /note="isoform a is encoded by transcript variant 1;
                     coiled-coil-helix-coiled-coil-helix domain-containing
                     protein 5; mitochondrial intermembrane space cysteine
                     motif protein of 14 kDa homolog"
                     /codon_start=1
                     /product="coiled-coil-helix-coiled-coil-helix
                     domain-containing protein 5 isoform a"
                     /protein_id="NP_115685.1"
                     /db_xref="CCDS:CCDS2098.1"
                     /db_xref="GeneID:84269"
                     /db_xref="HGNC:HGNC:17840"
                     /db_xref="MIM:616978"
                     /translation="MQAALEVTARYCGRELEQYGQCVAAKPESWQRDCHYLKMSIAQC
                     TSSHPIIRQIRQACAQPFEAFEECLRQNEAAVGNCAEHMRRFLQCAEQVQPPRSPATV
                     EAQPLPAS"
     exon            42..182
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /inference="alignment:Splign:2.1.0"
     exon            183..348
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /inference="alignment:Splign:2.1.0"
     exon            349..523
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      502..507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /note="hexamer: AATAAA"
     polyA_site      523
                     /gene="CHCHD5"
                     /gene_synonym="C2orf9; CHTM1; MIC14; MIX14"
                     /note="major polyA site"
ORIGIN      
        1 gttccccccg gacagcccta cgccggcaaa ggtctcgaga tgcaggcggc cctagaggtc
       61 accgctcgct actgtggccg ggagctggag cagtatggcc agtgtgtggc ggccaagccg
      121 gaatcctggc agcgggactg tcactacctt aagatgagca ttgcccagtg cacatcctcc
      181 cacccaatca tccgccagat ccgccaggcc tgtgctcagc cttttgaggc cttcgaggag
      241 tgtcttcgac agaacgaggc agctgtgggc aactgtgcag agcatatgcg ccgcttcctg
      301 cagtgcgctg agcaggtgca gccgccacgc tcacctgcaa ctgtggaggc acagccactt
      361 cctgcctcct gaggactcct ctgacggcag gaaaactgga catgaatgac tgcccccacg
      421 cccctcccct gcagagtggc cagatggagt cctgagccct ggacatgggc ccggctttcc
      481 tggatatcag gacttccaat aaataaagac tctgtatact ggg
//
