LOCUS       NM_001861                763 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 4I1 (COX4I1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001861
VERSION     NM_001861.6
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 763)
  AUTHORS   Yu,J., Duan,Y., Lu,Q., Chen,M., Ning,F., Ye,Y., Lu,S., Ou,D.,
            Sha,X., Gan,X., Zhao,M. and Lash,G.E.
  TITLE     Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the
            proliferation, migration and invasion of trophoblast cells via
            modulating mitochondrial function
  JOURNAL   Placenta 151, 48-58 (2024)
   PUBMED   38718733
  REMARK    GeneRIF: Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the
            proliferation, migration and invasion of trophoblast cells via
            modulating mitochondrial function.
REFERENCE   2  (bases 1 to 763)
  AUTHORS   Vogt,S., Ramzan,R., Cybulski,P., Rhiel,A., Weber,P., Ruppert,V.,
            Irqsusi,M., Rohrbach,S., Niemann,B., Mirow,N. and Rastan,A.J.
  TITLE     The ratio of cytochrome c oxidase subunit 4 isoform 4I1 and 4I2
            mRNA is changed in permanent atrial fibrillation
  JOURNAL   ESC Heart Fail 11 (3), 1525-1539 (2024)
   PUBMED   38149324
  REMARK    GeneRIF: The ratio of cytochrome c oxidase subunit 4 isoform 4I1
            and 4I2 mRNA is changed in permanent atrial fibrillation.
REFERENCE   3  (bases 1 to 763)
  AUTHORS   Pinho,S.A., Costa,C.F., Deus,C.M., Pinho,S.L.C., Miranda-Santos,I.,
            Afonso,G., Bagshaw,O., Stuart,J.A., Oliveira,P.J. and
            Cunha-Oliveira,T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   4  (bases 1 to 763)
  AUTHORS   Douiev,L., Miller,C., Keller,G., Benyamini,H., Abu-Libdeh,B. and
            Saada,A.
  TITLE     Replicative Stress Coincides with Impaired Nuclear DNA Damage
            Response in COX4-1 Deficiency
  JOURNAL   Int J Mol Sci 23 (8), 4149 (2022)
   PUBMED   35456968
  REMARK    GeneRIF: Replicative Stress Coincides with Impaired Nuclear DNA
            Damage Response in COX4-1 Deficiency.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 763)
  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   6  (bases 1 to 763)
  AUTHORS   Lomax,M.I., Hewett-Emmett,D., Yang,T.L. and Grossman,L.I.
  TITLE     Rapid evolution of the human gene for cytochrome c oxidase subunit
            IV
  JOURNAL   Proc Natl Acad Sci U S A 89 (12), 5266-5270 (1992)
   PUBMED   1319058
REFERENCE   7  (bases 1 to 763)
  AUTHORS   Van Kuilenburg,A.B., Van Beeumen,J.J., Demol,H., Van den Bogert,C.,
            Schouten,I. and Muijsers,A.O.
  TITLE     Subunit IV of human cytochrome c oxidase, polymorphism and a
            putative isoform
  JOURNAL   Biochim Biophys Acta 1119 (2), 218-224 (1992)
   PUBMED   1311608
REFERENCE   8  (bases 1 to 763)
  AUTHORS   Lomax,M.I., Welch,M.D., Darras,B.T., Francke,U. and Grossman,L.I.
  TITLE     Novel use of a chimpanzee pseudogene for chromosomal mapping of
            human cytochrome c oxidase subunit IV
  JOURNAL   Gene 86 (2), 209-216 (1990)
   PUBMED   2157630
REFERENCE   9  (bases 1 to 763)
  AUTHORS   Romero,N., Marsac,C., Fardeau,M., Droste,M., Schneyder,B. and
            Kadenbach,B.
  TITLE     Immunohistochemical demonstration of fibre type-specific isozymes
            of cytochrome c oxidase in human skeletal muscle
  JOURNAL   Histochemistry 94 (2), 211-215 (1990)
   PUBMED   2162812
REFERENCE   10 (bases 1 to 763)
  AUTHORS   Zeviani,M., Nakagawa,M., Herbert,J., Lomax,M.I., Grossman,L.I.,
            Sherbany,A.A., Miranda,A.F., DiMauro,S. and Schon,E.A.
  TITLE     Isolation of a cDNA clone encoding subunit IV of human cytochrome c
            oxidase
  JOURNAL   Gene 55 (2-3), 205-217 (1987)
   PUBMED   2444497
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM835194.1, BC062437.1,
            BU599266.1, BE615615.1 and AC018695.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_001861.5.
            
            Summary: Cytochrome c oxidase (COX) is the terminal enzyme of the
            mitochondrial respiratory chain. It is a multi-subunit enzyme
            complex that couples the transfer of electrons from cytochrome c to
            molecular oxygen and contributes to a proton electrochemical
            gradient across the inner mitochondrial membrane. The complex
            consists of 13 mitochondrial- and nuclear-encoded subunits. The
            mitochondrially-encoded subunits perform the electron transfer and
            proton pumping activities. The functions of the nuclear-encoded
            subunits are unknown but they may play a role in the regulation and
            assembly of the complex. This gene encodes the nuclear-encoded
            subunit IV isoform 1 of the human mitochondrial respiratory chain
            enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene
            in a head-to-head orientation, and shares a promoter with it.
            Pseudogenes related to this gene are located on chromosomes 13 and
            14. Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Variants 1 and 2 encode the same isoform (1).
            
            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 :: BG714993.1, BI597728.1 [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                 :: ENST00000253452.8/
                                                  ENSP00000253452.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                BM835194.1         105-170
            67-242              BC062437.1         74-249
            243-300             BU599266.1         230-287
            301-692             BC062437.1         308-699
            693-698             BE615615.1         639-644
            699-763             AC018695.6         116896-116960
FEATURES             Location/Qualifiers
     source          1..763
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..763
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /note="cytochrome c oxidase subunit 4I1"
                     /db_xref="GeneID:1327"
                     /db_xref="HGNC:HGNC:2265"
                     /db_xref="MIM:123864"
     exon            1..58
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /inference="alignment:Splign:2.1.0"
     exon            59..132
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..569
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /EC_number="7.1.1.9"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cytochrome c oxidase polypeptide IV; cytochrome
                     c oxidase subunit IV"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 4 isoform 1,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_001852.1"
                     /db_xref="CCDS:CCDS10955.1"
                     /db_xref="GeneID:1327"
                     /db_xref="HGNC:HGNC:2265"
                     /db_xref="MIM:123864"
                     /translation="MLATRVFSLVGKRAISTSVCVRAHESVVKSEDFSLPAYMDRRDH
                     PLPEVAHVKHLSASQKALKEKEKASWSSLSMDEKVELYRIKFKESFAEMNRGSNEWKT
                     VVGGAMFFIGFTALVIMWQKHYVYGPLPQSFDKEWVAKQTKRMLDMKVNPIQGLASKW
                     DYEKNEWKK"
     exon            133..300
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /inference="alignment:Splign:2.1.0"
     exon            301..432
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /inference="alignment:Splign:2.1.0"
     exon            433..763
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /inference="alignment:Splign:2.1.0"
     regulatory      674..679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /note="hexamer: AATAAA"
     polyA_site      697
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /note="major polyA site"
     regulatory      740..745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
                     /note="hexamer: ATTAAA"
     polyA_site      763
                     /gene="COX4I1"
                     /gene_synonym="COX IV-1; COX4; COX4-1; COXIV; COXIV-1;
                     MC4DN16"
ORIGIN      
        1 ctcttccggt cgcgggacac cgggtgtaga gggcggtcgc ggcgggcagt ggcggcagaa
       61 tgttggctac cagggtattt agcctagttg gcaagcgagc aatttccacc tctgtgtgtg
      121 tacgagctca tgaaagtgtt gtgaagagcg aagacttttc gctcccagct tatatggatc
      181 ggcgtgacca ccccttgccg gaggtggccc atgtcaagca cctgtctgcc agccagaagg
      241 cattgaagga gaaggagaag gcctcctgga gcagcctctc catggatgag aaagtcgagt
      301 tgtatcgcat taagttcaag gagagctttg ctgagatgaa caggggctcg aacgagtgga
      361 agacggttgt gggcggtgcc atgttcttca tcggtttcac cgcgctcgtt atcatgtggc
      421 agaagcacta tgtgtacggc cccctcccgc aaagctttga caaagagtgg gtggccaagc
      481 agaccaagag gatgctggac atgaaggtga accccatcca gggcttagcc tccaagtggg
      541 actacgaaaa gaacgagtgg aagaagtgag agatgctggc ctgcgcctgc acctgcgcct
      601 ggctctgtca ccgccatgca actccatgcc tatttactgg aaacctgtta tgccaaacag
      661 ttgtaccact gctaataaat gaccagttta cctgaaaccc tttgtgatca gttctttaat
      721 gatacctaaa tgaaagctaa ttaaaacaat aggtttctcc caa
//
