LOCUS       NM_001319040            1114 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 7A2 like (COX7A2L),
            transcript variant 5, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001319040
VERSION     NM_001319040.2
KEYWORDS    RefSeq.
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 1114)
  AUTHORS   Fernandez-Vizarra,E., Lopez-Calcerrada,S., Sierra-Magro,A.,
            Perez-Perez,R., Formosa,L.E., Hock,D.H., Illescas,M., Penas,A.,
            Brischigliaro,M., Ding,S., Fearnley,I.M., Tzoulis,C.,
            Pitceathly,R.D.S., Arenas,J., Martin,M.A., Stroud,D.A., Zeviani,M.,
            Ryan,M.T. and Ugalde,C.
  TITLE     Two independent respiratory chains adapt OXPHOS performance to
            glycolytic switch
  JOURNAL   Cell Metab 34 (11), 1792-1808 (2022)
   PUBMED   36198313
REFERENCE   2  (bases 1 to 1114)
  AUTHORS   Benegiamo,G., Bou Sleiman,M., Wohlwend,M., Rodriguez-Lopez,S.,
            Goeminne,L.J.E., Laurila,P.P., Klevjer,M., Salonen,M.K., Lahti,J.,
            Jha,P., Cogliati,S., Enriquez,J.A., Brumpton,B.M., Bye,A.,
            Eriksson,J.G. and Auwerx,J.
  TITLE     COX7A2L genetic variants determine cardiorespiratory fitness in
            mice and human
  JOURNAL   Nat Metab 4 (10), 1336-1351 (2022)
   PUBMED   36253618
  REMARK    GeneRIF: COX7A2L genetic variants determine cardiorespiratory
            fitness in mice and human.
REFERENCE   3  (bases 1 to 1114)
  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   4  (bases 1 to 1114)
  AUTHORS   Balsa,E., Soustek,M.S., Thomas,A., Cogliati,S., Garcia-Poyatos,C.,
            Martin-Garcia,E., Jedrychowski,M., Gygi,S.P., Enriquez,J.A. and
            Puigserver,P.
  TITLE     ER and Nutrient Stress Promote Assembly of Respiratory Chain
            Supercomplexes through the PERK-eIF2alpha Axis
  JOURNAL   Mol Cell 74 (5), 877-890 (2019)
   PUBMED   31023583
REFERENCE   5  (bases 1 to 1114)
  AUTHORS   Lobo-Jarne,T., Nyvltova,E., Perez-Perez,R., Timon-Gomez,A.,
            Molinie,T., Choi,A., Mourier,A., Fontanesi,F., Ugalde,C. and
            Barrientos,A.
  TITLE     Human COX7A2L Regulates Complex III Biogenesis and Promotes
            Supercomplex Organization Remodeling without Affecting
            Mitochondrial Bioenergetics
  JOURNAL   Cell Rep 25 (7), 1786-1799 (2018)
   PUBMED   30428348
  REMARK    GeneRIF: COX7A2L establishes a regulatory checkpoint for the
            biogenesis of Complex III and specific supercomplexes.
REFERENCE   6  (bases 1 to 1114)
  AUTHORS   Schmidt,T.R., Doan,J.W., Goodman,M. and Grossman,L.I.
  TITLE     Retention of a duplicate gene through changes in subcellular
            targeting: an electron transport protein homologue localizes to the
            golgi
  JOURNAL   J Mol Evol 57 (2), 222-228 (2003)
   PUBMED   14562965
REFERENCE   7  (bases 1 to 1114)
  AUTHORS   Lee,N., Daly,M.J., Delmonte,T., Lander,E.S., Xu,F., Hudson,T.J.,
            Mitchell,G.A., Morin,C.C., Robinson,B.H. and Rioux,J.D.
  TITLE     A genomewide linkage-disequilibrium scan localizes the
            Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16
  JOURNAL   Am J Hum Genet 68 (2), 397-409 (2001)
   PUBMED   11156535
REFERENCE   8  (bases 1 to 1114)
  AUTHORS   Schmidt,T.R., Goodman,M. and Grossman,L.I.
  TITLE     Molecular evolution of the COX7A gene family in primates
  JOURNAL   Mol Biol Evol 16 (5), 619-626 (1999)
   PUBMED   10335655
REFERENCE   9  (bases 1 to 1114)
  AUTHORS   Watanabe,T., Inoue,S., Hiroi,H., Orimo,A., Kawashima,H. and
            Muramatsu,M.
  TITLE     Isolation of estrogen-responsive genes with a CpG island library
  JOURNAL   Mol Cell Biol 18 (1), 442-449 (1998)
   PUBMED   9418891
REFERENCE   10 (bases 1 to 1114)
  AUTHORS   Segade,F., Hurle,B., Claudio,E., Ramos,S. and Lazo,P.S.
  TITLE     Identification of an additional member of the cytochrome c oxidase
            subunit VIIa family of proteins
  JOURNAL   J Biol Chem 271 (21), 12343-12349 (1996)
   PUBMED   8647836
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF130603.1, CD700827.1,
            BC005251.1 and AA890657.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001319040.1.
            
            Summary: Cytochrome c oxidase (COX), the terminal component of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. This component is a
            heteromeric complex consisting of 3 catalytic subunits encoded by
            mitochondrial genes and multiple structural subunits encoded by
            nuclear genes. The mitochondrially-encoded subunits function in
            electron transfer, and the nuclear-encoded subunits may function in
            the regulation and assembly of the complex. This nuclear gene
            encodes a protein similar to polypeptides 1 and 2 of subunit VIIa
            in the C-terminal region, and also highly similar to the mouse
            Sig81 protein sequence. This gene is expressed in all tissues, and
            upregulated in a breast cancer cell line after estrogen treatment.
            It is possible that this gene represents a regulatory subunit of
            COX and mediates the higher level of energy production in target
            cells by estrogen. Several transcript variants, some protein-coding
            and others non-protein coding, have been found for this gene.
            [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (5) uses an alternate splice
            junction in the 3' end compared to variant 1, that causes a
            frameshift. The resulting isoform (d) has a shorter and distinct
            C-terminus compared to 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 :: SRR5189661.147234.1,
                                           SRR1163655.627783.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467148 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BF130603.1         27-34
            9-410               CD700827.1         20-421
            411-1107            BC005251.1         404-1100
            1108-1114           AA890657.1         20-26               c
FEATURES             Location/Qualifiers
     source          1..1114
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..1114
                     /gene="COX7A2L"
                     /gene_synonym="COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81"
                     /note="cytochrome c oxidase subunit 7A2 like"
                     /db_xref="GeneID:9167"
                     /db_xref="HGNC:HGNC:2289"
                     /db_xref="MIM:605771"
     exon            1..128
                     /gene="COX7A2L"
                     /gene_synonym="COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..284
                     /gene="COX7A2L"
                     /gene_synonym="COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81"
                     /note="isoform d is encoded by transcript variant 5;
                     estrogen receptor binding CpG island; cytochrome c oxidase
                     subunit VII-related protein; cytochrome c oxidase subunit
                     7A-related protein, mitochondrial; COX7a-related protein;
                     cytochrome c oxidase subunit VIIa-related protein;
                     cytochrome c oxidase subunit VIIa polypeptide 2 like;
                     supercomplex assembly factor 1; cytochrome c oxidase
                     subunit 7A2-like, mitochondrial"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 7A2-like,
                     mitochondrial isoform d"
                     /protein_id="NP_001305969.1"
                     /db_xref="GeneID:9167"
                     /db_xref="HGNC:HGNC:2289"
                     /db_xref="MIM:605771"
                     /translation="MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTK
                     LTSDSTVYDYAGKNKVPELQKFFQLMVCPST"
     exon            129..260
                     /gene="COX7A2L"
                     /gene_synonym="COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81"
                     /inference="alignment:Splign:2.1.0"
     exon            261..1114
                     /gene="COX7A2L"
                     /gene_synonym="COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1098..1103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX7A2L"
                     /gene_synonym="COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81"
                     /note="hexamer: AATACA"
     polyA_site      1114
                     /gene="COX7A2L"
                     /gene_synonym="COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81"
                     /note="major polyA site"
ORIGIN      
        1 ccttctctgg ggcggtcgcg ttggcagcgg atgcgggaag ccggactctg ggcgtcatgt
       61 actacaagtt tagtggcttc acgcagaagt tggcaggagc atgggcttcg gaggcctata
      121 gcccgcaggg attaaagcct gtggtttcca cagaagcacc acctatcata tttgccacac
      181 caactaaact gacctccgat tccacagtgt atgattatgc tgggaaaaac aaagttccag
      241 agctacaaaa gtttttccag ctgatggtgt gcccgtctac ctgaaacgag gcctgcctga
      301 ccaaatgctt taccggacca ccatggcgct gactgtggga gggaccatct actgcctgat
      361 cgccctctac atggcttcgc agcccaaaaa caaatgagtt aggctgcaga ggactggttt
      421 gttttttggc ataaaccctt tgaagttcct ttttcattgt taaattaaaa tttttttttt
      481 tacttggatg gcttaacatt tttgcaagaa aaataggaag atatgaagat gatgttttgg
      541 tttgtttatg aaatgcatat ggcttgtcag agctcattcg acagttaaag ccattgttta
      601 aagaaatggt gctttgctct gtgtttgtgc tcctgatttc cctggaggtt ctggatgaag
      661 gctgaacaca ggcttgttaa tgtcagtctg tgctgaggac ctcagggact tgaggttgca
      721 tttttgagca tggggtgcag gagcctttct ggatttggat gtggctatgg aaagaacaca
      781 gaagccaagg tcatgtgcat gaaatgagga gtttgagtta gtcacctcgg ggattttttc
      841 cattttgcag taaaatgtta aattaatgta gcctgcctct atttgttggg caggtaattt
      901 caaagggtta tttgcctcat ctcctatctt tagtgaaatc ttatgtgtaa ttattccacc
      961 gtgggaacag agaatacctg tttagtgttg cactttagac tggtgtctgt tttgttaatg
     1021 cagctgtgcc acaaattctc ctttatcttt taaaaatgtt atagctttaa attttgattt
     1081 attttgactg tggaataaat acatgaatga aaaa
//
