LOCUS       NM_182523               6009 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens C-X9-C motif containing 1 (CMC1), transcript variant
            4, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_182523
VERSION     NM_182523.2
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 6009)
  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 6009)
  AUTHORS   Bourens,M. and Barrientos,A.
  TITLE     A CMC1-knockout reveals translation-independent control of human
            mitochondrial complex IV biogenesis
  JOURNAL   EMBO Rep 18 (3), 477-494 (2017)
   PUBMED   28082314
  REMARK    GeneRIF: our data indicate that CMC1 regulates turnover of newly
            synthesized COX1 prior to and during COX1 maturation, without
            affecting the rate of COX1 synthesis.
REFERENCE   3  (bases 1 to 6009)
  AUTHORS   Fischer,M., Horn,S., Belkacemi,A., Kojer,K., Petrungaro,C.,
            Habich,M., Ali,M., Kuttner,V., Bien,M., Kauff,F., Dengjel,J.,
            Herrmann,J.M. and Riemer,J.
  TITLE     Protein import and oxidative folding in the mitochondrial
            intermembrane space of intact mammalian cells
  JOURNAL   Mol Biol Cell 24 (14), 2160-2170 (2013)
   PUBMED   23676665
REFERENCE   4  (bases 1 to 6009)
  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   5  (bases 1 to 6009)
  AUTHORS   Horn,D., Al-Ali,H. and Barrientos,A.
  TITLE     Cmc1p is a conserved mitochondrial twin CX9C protein involved in
            cytochrome c oxidase biogenesis
  JOURNAL   Mol Cell Biol 28 (13), 4354-4364 (2008)
   PUBMED   18443040
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092503.2, BC052644.1 and AC098616.2.
            
            On May 17, 2019 this sequence version replaced NM_182523.1.
            
            Transcript Variant: This variant (4) lacks two alternate exons
            compared to variant 1. The resulting isoform (4) has the same N-
            and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648671.1, SRR1660807.37695.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000466830.6/
                                                  ENSP00000418348.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC092503.2         77941-77954         c
            15-640              BC052644.1         1-626
            641-6009            AC098616.2         50704-56072         c
FEATURES             Location/Qualifiers
     source          1..6009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     gene            1..6009
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /note="C-X9-C motif containing 1"
                     /db_xref="GeneID:152100"
                     /db_xref="HGNC:HGNC:28783"
                     /db_xref="MIM:615166"
     exon            1..194
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /inference="alignment:Splign:2.1.0"
     CDS             176..496
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /note="isoform 4 is encoded by transcript variant 4; CX9C
                     mitochondrial protein required for full expression of COX
                     1; mitochondrial metallochaperone-like protein; COX
                     assembly mitochondrial protein 1 homolog; C-x(9)-C motif
                     containing 1"
                     /codon_start=1
                     /product="COX assembly mitochondrial protein homolog
                     isoform 4"
                     /protein_id="NP_872329.1"
                     /db_xref="CCDS:CCDS33722.1"
                     /db_xref="GeneID:152100"
                     /db_xref="HGNC:HGNC:28783"
                     /db_xref="MIM:615166"
                     /translation="MALDPADQHLRHVEKDVLIPKIMREKAKERCSEQVQDFTKCCKN
                     SGVLMVVKCRKENSALKECLTAYYNDPAFYEECKMEYLKEREEFRKTGIPTKKRLQKL
                     PTSM"
     exon            195..284
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /inference="alignment:Splign:2.1.0"
     exon            285..375
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /inference="alignment:Splign:2.1.0"
     exon            376..6009
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      621..626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /note="hexamer: AATAAA"
     polyA_site      640
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /note="major polyA site"
     regulatory      5251..5256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /note="hexamer: AGTAAA"
     polyA_site      5270
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
     regulatory      5654..5659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /note="hexamer: AATACA"
     regulatory      5671..5676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
                     /note="hexamer: AATAAA"
     polyA_site      5676
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
     polyA_site      5696
                     /gene="CMC1"
                     /gene_synonym="C3orf68; cmc1p"
ORIGIN      
        1 agcctgggaa ggaagaggga acgggtcctg gcggtgcttt gcaaagggcc cgtgtttctg
       61 ttgcgggaag ctcccggggg tcgcacgtgc gtccgagccc aagcccctcc cctccactcc
      121 ccttcctgcg tgccccggag ccgccaagcg gctacgttct tctcggcccg ccgagatggc
      181 gctcgacccc gcagaccagc atctcagaca tgtcgaaaaa gatgttttga tccctaaaat
      241 aatgagagaa aaggccaaag agaggtgttc tgaacaagtt caagatttta ccaaatgttg
      301 caagaactct ggagttctta tggtagtaaa atgccggaaa gaaaattctg cattgaaaga
      361 atgtctaact gcttactata atgatccagc cttttatgaa gaatgcaaaa tggaatacct
      421 gaaggaaagg gaagaattca gaaaaactgg aattcctaca aagaaaaggc tacagaagct
      481 tccaacaagc atgtaggcag atactcaaat gacattcagg aactctaata ttcatggaag
      541 tcattttata gtccttaaat aatggactca agcatatatg tttgctttac cttaattatg
      601 gaaatattaa ctttatctga aataaatatt ttatttcaaa gttttggttt cttaaatggg
      661 aaaggagtag ttactgaatt gggatatggt tttcctggtc attctggacc ttttgaaagt
      721 tttcccacaa ctatagttct ataacagtga tactgatttt ttagagttca atatggtcct
      781 tatattattt ttttccagtg tatatgctaa tggctaatca tgggagccaa aactaaagaa
      841 aagcaggaat ggacaacctt caaaggtgtt aataataact aggcagtata gcagaatggc
      901 tatgaaccag aatccttcct gattctacca cttattagct atacagctgt ggaagtaaat
      961 ctaatacagt ttgtgaggat gtactgagta ttgcatatag caggtacacg tacagtgtat
     1021 aagacagtgc ttcagacctg gtacatgctc ttatattggt agttactgtt agtagtagta
     1081 gaggcttatt tggaaactat cttagtccat tttctgttgc tatgggagaa tacccaagac
     1141 caggtaattt ataagaaaag tttgtttggc tcacagttct ggagtttatt tgccagcagc
     1201 ttctggcaag ggttttcata ctgcatcaaa acataatagg gtgtaaaaaa tagaaggaca
     1261 aacaagtgtg ggcaaacttt tataacagcc cgctctcttg agaactaata cctgtaataa
     1321 tggcataaat ccattcacga gggctccagc ctcatcaccc tattacctct taaaggctcc
     1381 atttcttagt cctgttaaat tagcaactaa gtttccaaca catgaactct tgggggacac
     1441 atcaaaccat agcagaacca tagataagga gatacctact tatatgaatt aattttactt
     1501 acatctttga tgtagaattt tctaaaacat aatgttctta acctgataac ttgttagtcc
     1561 tttaatcttt cattttgaaa agttatattt ctaagtgaat taccattctg taacatagta
     1621 atggactcag gaagtagtat aaaaaattta tgtcccaatt taataatttg agcttttata
     1681 ttaaaagtta ttttttcccc atgagctgtt aactcttcca cagccattgt aactagtttc
     1741 aagataagta aattttacgt atattttcac agtcctcatt aaaatcacaa atagaaatta
     1801 ctacccacta agacaaggtt taactttccc taatcccatg caatagatct gagagatttt
     1861 tttttaagaa agaatttaaa taggacacta aagaatcaat tcaagttcca cactttactc
     1921 ttgagtgaac cactcaaaaa actattttac ttttatttga aatacaaaga aaccacattt
     1981 tcccaggcca cagatcaaaa ggagggagat tactagagca gacaaaagca aagcaaatat
     2041 agaaatctag agaccacaca gcataggggc aaacatgccc atatttccac attgaccttt
     2101 ggtattggtg catttcctag agcacaggaa gttaactgtt tttagagata aatgaaaatg
     2161 gaagagttac tttaagaagc tagtgaaata tacaatctat tttatagctt tgattaaaat
     2221 cagaagtagc ccacttcatg tagaaaattc acttatgtac atgttgcttt ccccatagaa
     2281 gccagattag attacacagt ataaataata tgttcatcct ccttatgtca aagactaaac
     2341 cattcattgt agccttcaga atacccatgt gtatccatac tgaagatttt tttcacctgg
     2401 tacatctgtc tcagttgtgt cttgcttgct tatgggtgcc tctgttgata ttattccctg
     2461 ttaatatgtg gtaacccaca ggttttttac cccttaagat acaccttctc caagtagcct
     2521 ttctgaatta agatcagtac tttgttgtca catgattcag ctcttcaagt ctgaattttc
     2581 ccatttattt tggttttcta atgtttcaca taggcatgtt cctgctttta agaattcagt
     2641 tccattttgg cagcaactca gtaagtctta cagatgtaaa ttttacttta gctaataagg
     2701 gagcaagagg aaggaatagg tggctttttg ttatgttttc ttcattctgt cgatttatgg
     2761 atgtactgaa ttgaacctta taaaaagaaa tctaaagatt ccaaaggaag ctctttagag
     2821 caagtttcag ctagtatgaa agaagtcaac ataaaatatt caattttaaa tagattcata
     2881 agctacagat gggccactgt tttttggttg tttgaatttt acctagaaca gagatatcaa
     2941 gtgtagattt aaaagcttct agctgggtaa aaaatttttg gctaatcttt ccttactaaa
     3001 gaaccttata catcatttgt ctaacacttt aaactgtcac agtcactgac tttttagtat
     3061 acctgtttga tagctatcat cactgtactg tttaaatgga aaataatttt ctccactcaa
     3121 aagctggttt aacaaatgtc tattgtatga atcatattaa caaccaacaa ttagtactag
     3181 attttgagat ctataggcaa ggacaatatt tcacatccac ttcaatttca aacaaaaata
     3241 tttattttaa ttaaacaatt tcttggtatt gttcaaaaca ttaatcaagc aattatctca
     3301 taagactttt tttctttaca aaggaaaatt tccaattttg gttttaaaaa aggcaaacca
     3361 gtaagctaca ttagagatca gatataatat acagcctatg cagccacatg agaaatagtt
     3421 tttgctgctt tgttattaca caggtagttg cttccttcag ctaaagcctg gagtattgta
     3481 tttcttttat gcatattggg tttggttcta ttacttggca ggagattgta ctcccctgag
     3541 tcagctgtgt tcattggtca gaataaattc cagcatctga caccaattcc attaatcaca
     3601 gacaagcttg aataagtgta agataataga aaaaaatatc tagtgaatgg cgaacattgt
     3661 ctatgtatgt atgctattca gtaatacagt agaagagatc tgagatattg agttcaagat
     3721 atatgaaact gtctatcaaa aaggataaaa gtcctcctac atgaaatact ttaattcagg
     3781 caaaaggtgt atgaaccaag taaatctcca ccctgaaaga acttaaattt ccatgtgaag
     3841 ccatctttat ttccttcttt atttccaaat aattggccac ttagaataag tgtggacatt
     3901 tcatgatcga caatatcaat acagcccaaa ccctgatttc tatgattaaa aataataatt
     3961 ttaaatcact ttctcaataa atagaatatt acatttcaac acaaagtcta acaatttaga
     4021 agctgctcta cacaatgtgc agctagctgt agtctctttg aagaaaatga ctttttatca
     4081 ttacacacat ttatgtttat attatggccc acagaagggc agattagact gaaatctgtg
     4141 tgatgctcct tctactactt attgaatagt gtgtagggtt acaatcattt gtttacaccc
     4201 cagagttttt caactatttc attttttttt ttttttttcc caattaggac ttaaggaatg
     4261 tgctgggaca aagttggctt cagtgatcag gttgtttcaa gtcttagaat tcaaacttca
     4321 attctaaaaa aattttatca acaaaacact gtgaccaaaa aatcacttta aatcttaaat
     4381 attgaaacgc aatagcatat aaagatggta taacctaaga tgcttttatt tcattatatt
     4441 ttcaatatct ttacgcatta taacaacaga aatgtaacct actcacattg ccatttgttc
     4501 cattatgcaa tttgaagaaa catgttttcc ttttattttt atgaacagat atttagacat
     4561 ttcacatttt gtaaaaccac gtctacaatc tccaattcca ttcttctgag aggcaaaatt
     4621 ttacaattaa tatagaaggc agagtttttt aaacacctta agtttactta ttaattagta
     4681 tagtagcata tttcagattc ttagaatatg gagctagagg gtgctctttc atactagaaa
     4741 accaactatg ttggtttttg tactattgta cagtgtgttc aaatatagat actgaagacc
     4801 tctgcaaaat tttaatcaaa atctcctttc agtttgttaa ataatttctt gggaggacca
     4861 ctgaaagaga taagtgtcct catggtgaaa tcgtgaatct cttccaaatt aattcttata
     4921 aaggcagttc tgattatgtt gatccaagta atgcagtggt ggaaggttgg gtaaaggcaa
     4981 agttttagtt ttagtttccc caaatgctgt ctcacttgat ttaggaggac ttggaaatac
     5041 ccaggaattg tcttccagag aatttctgcc ataagaactg tgttcctgaa agcatgtacc
     5101 atcattagga atggatctct cattgtctgt ccatgattgg aggattgctt tctctgataa
     5161 aacctttaca tctcctggta aaggggaaga tgtggtatga caaagagctt tgccatttgg
     5221 taagagaggg ggatgtcttg tgtatgttgc agtaaaattc atcaagtgca gttttgtgct
     5281 gtctcttcca aggtcttcac tgcatcctac aggggcacag gctaaaaaga aaacacagac
     5341 taaatgtcag ttttcattac atttgtgatc ataaaattcg ataacacttc accaatttga
     5401 attctagaac tggtgatgaa attaagattt ccaagttagt gtgatcattg aggcactgtg
     5461 actaggagat aaatgacaga tgatctgagt tttaatcctg gatcagcaat ttactgtgac
     5521 tttagatatt tgtctcttag ctgctcctga tgtctctttc cttgtctgca gaatggatat
     5581 agaattcctg tcccaactat gtcatagagc ttttaaaaga tgaagaacta catattttta
     5641 aaagttggaa actaatacag ttaaaataca aataaagatc ctgttcttgg ctcttattgt
     5701 ggctggagaa ggattgcaga ctgttcacat gtcagtgggg actgagacag ttcttaagtt
     5761 ttagcatttt ttagttaaat ataatattcc tttgctcaaa ctctttgtcc acaggcagtc
     5821 caaaagcaaa ttttttagaa ataattgcat ttttaattgg tgagacccaa atgaagtttt
     5881 tatatatcaa aggcttttat ggataaagca gtttaaataa aatttgtgaa atcttgtttc
     5941 ttgtaaaaca cagcaaatgt taatgctact gtggtcacaa tgtaggtaaa gtaaaaaaaa
     6001 aaaaaaaaa
//
