LOCUS       NM_001011671            1697 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing
            7 (CHCHD7), transcript variant 6, mRNA.
ACCESSION   NM_001011671
VERSION     NM_001011671.3
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 1697)
  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 1697)
  AUTHORS   He,M., Xu,M., Zhang,B., Liang,J., Chen,P., Lee,J.Y., Johnson,T.A.,
            Li,H., Yang,X., Dai,J., Liang,L., Gui,L., Qi,Q., Huang,J., Li,Y.,
            Adair,L.S., Aung,T., Cai,Q., Cheng,C.Y., Cho,M.C., Cho,Y.S.,
            Chu,M., Cui,B., Gao,Y.T., Go,M.J., Gu,D., Gu,W., Guo,H., Hao,Y.,
            Hong,J., Hu,Z., Hu,Y., Huang,J., Hwang,J.Y., Ikram,M.K., Jin,G.,
            Kang,D.H., Khor,C.C., Kim,B.J., Kim,H.T., Kubo,M., Lee,J., Lee,J.,
            Lee,N.R., Li,R., Li,J., Liu,J., Longe,J., Lu,W., Lu,X., Miao,X.,
            Okada,Y., Ong,R.T., Qiu,G., Seielstad,M., Sim,X., Song,H.,
            Takeuchi,F., Tanaka,T., Taylor,P.R., Wang,L., Wang,W., Wang,Y.,
            Wu,C., Wu,Y., Xiang,Y.B., Yamamoto,K., Yang,H., Liao,M., Yokota,M.,
            Young,T., Zhang,X., Kato,N., Wang,Q.K., Zheng,W., Hu,F.B., Lin,D.,
            Shen,H., Teo,Y.Y., Mo,Z., Wong,T.Y., Lin,X., Mohlke,K.L., Ning,G.,
            Tsunoda,T., Han,B.G., Shu,X.O., Tai,E.S., Wu,T. and Qi,L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   3  (bases 1 to 1697)
  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.
REFERENCE   4  (bases 1 to 1697)
  AUTHORS   Cavallaro,G.
  TITLE     Genome-wide analysis of eukaryotic twin CX9C proteins
  JOURNAL   Mol Biosyst 6 (12), 2459-2470 (2010)
   PUBMED   20922212
REFERENCE   5  (bases 1 to 1697)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1697)
  AUTHORS   Zhao,J., Li,M., Bradfield,J.P., Zhang,H., Mentch,F.D., Wang,K.,
            Sleiman,P.M., Kim,C.E., Glessner,J.T., Hou,C., Keating,B.J.,
            Thomas,K.A., Garris,M.L., Deliard,S., Frackelton,E.C., Otieno,F.G.,
            Chiavacci,R.M., Berkowitz,R.I., Hakonarson,H. and Grant,S.F.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1697)
  AUTHORS   Sovio,U., Bennett,A.J., Millwood,I.Y., Molitor,J., O'Reilly,P.F.,
            Timpson,N.J., Kaakinen,M., Laitinen,J., Haukka,J., Pillas,D.,
            Tzoulaki,I., Molitor,J., Hoggart,C., Coin,L.J., Whittaker,J.,
            Pouta,A., Hartikainen,A.L., Freimer,N.B., Widen,E., Peltonen,L.,
            Elliott,P., McCarthy,M.I. and Jarvelin,M.R.
  TITLE     Genetic determinants of height growth assessed longitudinally from
            infancy to adulthood in the northern Finland birth cohort 1966
  JOURNAL   PLoS Genet 5 (3), e1000409 (2009)
   PUBMED   19266077
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1697)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   9  (bases 1 to 1697)
  AUTHORS   Lettre,G., Jackson,A.U., Gieger,C., Schumacher,F.R., Berndt,S.I.,
            Sanna,S., Eyheramendy,S., Voight,B.F., Butler,J.L., Guiducci,C.,
            Illig,T., Hackett,R., Heid,I.M., Jacobs,K.B., Lyssenko,V., Uda,M.,
            Boehnke,M., Chanock,S.J., Groop,L.C., Hu,F.B., Isomaa,B., Kraft,P.,
            Peltonen,L., Salomaa,V., Schlessinger,D., Hunter,D.J., Hayes,R.B.,
            Abecasis,G.R., Wichmann,H.E., Mohlke,K.L. and Hirschhorn,J.N.
  CONSRTM   Diabetes Genetics Initiative; FUSION; KORA; Prostate, Lung
            Colorectal and Ovarian Cancer Screening Trial; Nurses' Health
            Study; SardiNIA
  TITLE     Identification of ten loci associated with height highlights new
            biological pathways in human growth
  JOURNAL   Nat Genet 40 (5), 584-591 (2008)
   PUBMED   18391950
REFERENCE   10 (bases 1 to 1697)
  AUTHORS   Asp,J., Persson,F., Kost-Alimova,M. and Stenman,G.
  TITLE     CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic,
            intrachromosomal 8q rearrangements in pleomorphic salivary gland
            adenomas
  JOURNAL   Genes Chromosomes Cancer 45 (9), 820-828 (2006)
   PUBMED   16736500
  REMARK    GeneRIF: CHCHD7 is a newly identified member of a ubiquitously
            expressed multifamily of proteins containing a conserved (coiled
            coil 1)-(helix 1)-(coiled coil 2)-(helix 2) domain; it has not been
            previously associated with neoplasia.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX473986.1, BC002546.2, AK095922.1 and AC107952.5.
            
            On May 17, 2019 this sequence version replaced NM_001011671.2.
            
            Transcript Variant: This variant (6) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream translation
            start site compared to variant 2. The encoded isoform (f) has a
            shorter N-terminus compared to variant 2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK095922.1, SRR1803617.56390.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355315.8/ ENSP00000347469.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                BX473986.1         35-83
            50-1507             BC002546.2         168-1625
            1508-1686           AK095922.1         1508-1686
            1687-1697           AC107952.5         82391-82401
FEATURES             Location/Qualifiers
     source          1..1697
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..1697
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="coiled-coil-helix-coiled-coil-helix domain
                     containing 7"
                     /db_xref="GeneID:79145"
                     /db_xref="HGNC:HGNC:28314"
                     /db_xref="MIM:611238"
     exon            1..49
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /inference="alignment:Splign:2.1.0"
     exon            50..119
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..323
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="isoform f is encoded by transcript variant 6;
                     coiled-coil-helix-coiled-coil-helix domain-containing
                     protein 7; COX23 cytochrome c oxidase assembly homolog"
                     /codon_start=1
                     /product="coiled-coil-helix-coiled-coil-helix
                     domain-containing protein 7 isoform f"
                     /protein_id="NP_001011671.1"
                     /db_xref="CCDS:CCDS34896.1"
                     /db_xref="GeneID:79145"
                     /db_xref="HGNC:HGNC:28314"
                     /db_xref="MIM:611238"
                     /translation="MPSVTQRLRDPDINPCLSESDASTRCLDENNYDRERCSTYFLRY
                     KNCRRFWNSIVMQRRKNGVKPFMPTAAERDEILRAVGNMPY"
     exon            120..218
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /inference="alignment:Splign:2.1.0"
     exon            219..1697
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      332..337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="hexamer: ATTAAA"
     polyA_site      354
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
     regulatory      1490..1495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="hexamer: AATGAA"
     polyA_site      1507
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="major polyA site"
     regulatory      1545..1550
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="hexamer: ATTAAA"
     polyA_site      1567
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
ORIGIN      
        1 gtgtttggag ctggagacgg cctgggtgct ggcgaagcgg aggccggagt aagaagactg
       61 ttagaatgcc ctcggtaaca cagaggctga gagatcctga cataaatcct tgtttgtcgg
      121 aatctgatgc ttccaccaga tgtctggatg aaaataacta tgacagggaa aggtgttcca
      181 cttacttctt gaggtacaaa aactgccgga gattctggaa ttctatcgtg atgcagagaa
      241 gaaagaacgg agtgaagcca tttatgccta cggcagcaga aagagatgaa atcttgagag
      301 cagtgggaaa tatgccctat tgaatgtttg cattaaaagt gtttatataa cttagaagca
      361 gatgaatatt tctaataaat gattgctgta atatttaaga ctgtacaccc ctcacccaga
      421 cagaccttaa gttcttcaag tggagacagt gaagtcaccc cgtgtccttt ttgcttgctc
      481 tcagtgccat gccgatggta tgttgctgtt ggctgtgttg tggcatgagt ttgcatgact
      541 ttctggaggc atggagttag gtaaggctac atgagaaatt gagcttttcc actgggtttt
      601 gaaagaagag tatgatgtga acaagtaaag actgaatggg gctgagatga aggcaatgtt
      661 tccaaggaaa ggaaatgtta tgagcaagag tgtgaggcaa gagaagctgg aaccacattc
      721 agagagtatc ctgtagattg ctccacctag aatctcaggt gggtggagca gtggtgggag
      781 aagactggaa aggtaagttg aaggtaagga atgtgtggtg ggcctcagat cccaggctca
      841 ttcctcaaat cacttcttac ttccctcact tatctttgtt taaataaggt tagtacattc
      901 actaggggca aatgggtttt tctaaataaa tgacataaaa aagaactggt tgtctttctt
      961 taaagaaagt cttagttaca ggattctgtg attaaaatcc ttaaatattg ggttgccttc
     1021 tgcagctgta gtatcagttt ttgaaccaca gtaatgggaa gaaagacaaa tggattccct
     1081 tagaagtaag atttctattt gcaggatgag ttgggcaggg aaaagggtca gggttcatca
     1141 ggtgaactca acactgggat gagactagaa cttcacttta tgatataaac acaatacgat
     1201 tattcaatgt ggtgactggg gtagactgtg aagcagccct ccttatgccc actgcctttt
     1261 agaatcgttt gttttattca tggtagtttt atgaagacat actattattg aatgaaattt
     1321 aatgtgtact tgaaaacatt gcttttgtcc cttctcttca tctggtcttg ggtcaagaac
     1381 attgttttaa tggctgccga caatgaactg tctgtctgag tctaaaacca agctcaggtt
     1441 tctaagccac atgaccttga ttgttaaatg tagttatatt tgaataaaaa atgaatcatt
     1501 tccaaaattc ttttgatttg tattgactgc tataaaaatg atggattaaa ataggaccag
     1561 aaaagaatga atgcctacct gtgtaagaag tatttttgta tttttaagca cacttgttaa
     1621 agggcttgga attttaatgt cactcctttg aaggtacata ccaatatcaa cattcatctt
     1681 gtaactagtt gtcctga
//
