LOCUS       NM_000097               2709 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_000097
VERSION     NM_000097.7
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 2709)
  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 2709)
  AUTHORS   Hong,S., Dobricic,V., Ohlei,O., Bos,I., Vos,S.J.B., Prokopenko,D.,
            Tijms,B.M., Andreasson,U., Blennow,K., Vandenberghe,R., Gabel,S.,
            Scheltens,P., Teunissen,C.E., Engelborghs,S., Frisoni,G., Blin,O.,
            Richardson,J.C., Bordet,R., Lleo,A., Alcolea,D., Popp,J., Clark,C.,
            Peyratout,G., Martinez-Lage,P., Tainta,M., Dobson,R.J.B.,
            Legido-Quigley,C., Sleegers,K., Van Broeckhoven,C., Tanzi,R.E., Ten
            Kate,M., Wittig,M., Franke,A., Lill,C.M., Barkhof,F., Lovestone,S.,
            Streffer,J., Zetterberg,H., Visser,P.J. and Bertram,L.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative (ADNI)
  TITLE     TMEM106B and CPOX are genetic determinants of cerebrospinal fluid
            Alzheimer's disease biomarker levels
  JOURNAL   Alzheimers Dement 17 (10), 1628-1640 (2021)
   PUBMED   33991015
  REMARK    GeneRIF: TMEM106B and CPOX are genetic determinants of
            cerebrospinal fluid Alzheimer's disease biomarker levels.
REFERENCE   3  (bases 1 to 2709)
  AUTHORS   Loskove,Y., Yasuda,M., Chen,B., Nazarenko,I., Cody,N. and
            Desnick,R.J.
  TITLE     Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane
            synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen
            oxidase novel mutations
  JOURNAL   Mol Genet Metab 128 (3), 352-357 (2019)
   PUBMED   30385147
  REMARK    GeneRIF: Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 29
            unrelated Hereditary Coproporphyria individuals with 11 previously
            unreported CPOX mutations.
REFERENCE   4  (bases 1 to 2709)
  AUTHORS   Kim,D.H., Hino,R., Adachi,Y., Kobori,A. and Taketani,S.
  TITLE     The enzyme engineering of mutant homodimer and heterodimer of
            coproporphyinogen oxidase contributes to new insight into
            hereditary coproporphyria and harderoporphyria
  JOURNAL   J Biochem 154 (6), 551-559 (2013)
   PUBMED   24078084
  REMARK    GeneRIF: The monomer form of mutated CPOX did not show any activity
            and homodimeric enzymes derived from Hereditary coproporphyria
            (HCP) mutant showed low activity (<20% of the control).
REFERENCE   5  (bases 1 to 2709)
  AUTHORS   Woods,J.S., Heyer,N.J., Echeverria,D., Russo,J.E., Martin,M.D.,
            Bernardo,M.F., Luis,H.S., Vaz,L. and Farin,F.M.
  TITLE     Modification of neurobehavioral effects of mercury by a genetic
            polymorphism of coproporphyrinogen oxidase in children
  JOURNAL   Neurotoxicol Teratol 34 (5), 513-521 (2012)
   PUBMED   22765978
  REMARK    GeneRIF: Polymorphism of coproporphyrinogen oxidase is associated
            with genetic susceptibility to the adverse neurobehavioral effects
            of Hg exposure in children.
REFERENCE   6  (bases 1 to 2709)
  AUTHORS   Lamoril,J., Martasek,P., Deybach,J.C., Da Silva,V., Grandchamp,B.
            and Nordmann,Y.
  TITLE     A molecular defect in coproporphyrinogen oxidase gene causing
            harderoporphyria, a variant form of hereditary coproporphyria
  JOURNAL   Hum Mol Genet 4 (2), 275-278 (1995)
   PUBMED   7757079
REFERENCE   7  (bases 1 to 2709)
  AUTHORS   Cacheux,V., Martasek,P., Fougerousse,F., Delfau,M.H., Druart,L.,
            Tachdjian,G. and Grandchamp,B.
  TITLE     Localization of the human coproporphyrinogen oxidase gene to
            chromosome band 3q12
  JOURNAL   Hum Genet 94 (5), 557-559 (1994)
   PUBMED   7959694
REFERENCE   8  (bases 1 to 2709)
  AUTHORS   Fujita,H., Kondo,M., Taketani,S., Nomura,N., Furuyama,K., Akagi,R.,
            Nagai,T., Terajima,M., Galbraith,R.A. and Sassa,S.
  TITLE     Characterization and expression of cDNA encoding coproporphyrinogen
            oxidase from a patient with hereditary coproporphyria
  JOURNAL   Hum Mol Genet 3 (10), 1807-1810 (1994)
   PUBMED   7849704
REFERENCE   9  (bases 1 to 2709)
  AUTHORS   Delfau-Larue,M.H., Martasek,P. and Grandchamp,B.
  TITLE     Coproporphyrinogen oxidase: gene organization and description of a
            mutation leading to exon 6 skipping
  JOURNAL   Hum Mol Genet 3 (8), 1325-1330 (1994)
   PUBMED   7987309
REFERENCE   10 (bases 1 to 2709)
  AUTHORS   Wang,B. and Bissell,D.M.
  TITLE     Hereditary Coproporphyria
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23236641
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290140.1, BC017210.2 and
            BC023551.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 31, 2018 this sequence version replaced NM_000097.6.
            
            Summary: The protein encoded by this gene is the sixth enzyme of
            the heme biosynthetic pathway. The encoded enzyme is soluble and
            found in the intermembrane space of mitochondria. This enzyme
            catalyzes the stepwise oxidative decarboxylation of
            coproporphyrinogen III to protoporphyrinogen IX, a precursor of
            heme. Defects in this gene are a cause of hereditary coproporphyria
            (HCP).[provided by RefSeq, Oct 2009].
            
            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 :: BC023551.2, BC017210.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151358, SAMEA2153307
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647941.2/ ENSP00000497326.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1784              AK290140.1         1-1784
            1785-2050           BC017210.2         1736-2001
            2051-2440           BC017210.2         2008-2397
            2441-2705           BC017210.2         2399-2663
            2706-2709           BC023551.2         2698-2701
FEATURES             Location/Qualifiers
     source          1..2709
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..2709
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="coproporphyrinogen oxidase"
                     /db_xref="GeneID:1371"
                     /db_xref="HGNC:HGNC:2321"
                     /db_xref="MIM:612732"
     exon            1..663
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1472
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /EC_number="1.3.3.3"
                     /note="coproporphyrinogenase; coprogen oxidase;
                     oxygen-dependent coproporphyrinogen-III oxidase,
                     mitochondrial; homozygous coproporphyria"
                     /codon_start=1
                     /product="oxygen-dependent coproporphyrinogen-III oxidase,
                     mitochondrial precursor"
                     /protein_id="NP_000088.3"
                     /db_xref="CCDS:CCDS2932.1"
                     /db_xref="GeneID:1371"
                     /db_xref="HGNC:HGNC:2321"
                     /db_xref="MIM:612732"
                     /translation="MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAA
                     GRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEML
                     PKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQ
                     AQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEA
                     AKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWW
                     FGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGI
                     GGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRY
                     VEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPR
                     DWVR"
     exon            664..807
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /inference="alignment:Splign:2.1.0"
     exon            808..918
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1060
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1279
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1384
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..2709
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2682..2687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="hexamer: AATAAA"
     polyA_site      2705
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="major polyA site"
ORIGIN      
        1 ctttccgcct gtgcagctcg ccggctcaat actccggggg tctgggtggg gggctcaaac
       61 gcagggctct gggacgcagg cactgctcca ggtgatagtg cgggaacatg gccttgcagc
      121 tgggcaggct gagctcgggc ccctgctggc tcgtggcgcg gggcggctgc ggagggcccc
      181 gcgcctggtc ccagtgcggc ggcggagggc tccgagcctg gtcccagcgc agcgcagccg
      241 gacgcgtctg ccggccccct ggcccggctg gcacggagca gagccgcggg ctggggcacg
      301 gctcgacgtc gagaggcggc ccctgggtgg ggacagggct ggccgcggcg ctggcggggt
      361 tggtggggct ggccaccgcc gccttcgggc atgtgcagcg ggcggagatg ttgcctaaga
      421 cctcggggac gcgggccact tcgctgggga ggccggagga ggaggaggat gagctggccc
      481 accgctgcag cagcttcatg gccccgcctg tgaccgacct gggcgagctg cgaaggaggc
      541 cgggcgacat gaagaccaag atggagctgc tgattctgga gacccaggcc caggtgtgcc
      601 aggctctggc acaggtagac gggggcgcca acttttctgt ggaccggtgg gagaggaagg
      661 aaggaggtgg cggcatcagc tgtgtacttc aagatgggtg tgttttcgaa aaggctgggg
      721 tgagcatttc tgttgttcat ggaaatcttt cagaggaagc tgcaaaacaa atgagaagca
      781 gaggaaaagt tctgaagact aaagatggta aattgccatt ttgtgctatg ggcgtgagct
      841 ctgttatcca ccccaagaat cctcatgctc ctactatcca tttcaactac agatactttg
      901 aagtagaaga agctgatggc aacaagcagt ggtggtttgg tggtggatgt gacctcactc
      961 caacatactt gaatcaagaa gacgctgtcc attttcacag aactctgaag gaggcttgtg
     1021 accagcatgg tccagatctc taccccaaat ttaaaaaatg gtgtgatgat tacttcttta
     1081 tagcccatcg tggagaacgg cggggcattg gtggtatctt ttttgatgat cttgactctc
     1141 cgtccaagga ggaggtgttt cgctttgtac agagctgtgc cagggctgta gttccttctt
     1201 acattcccct tgtgaaaaag cactgtgatg actcattcac cccccaggag aagctgtggc
     1261 agcagctcag aagaggacgg tatgtagaat ttaatctgct gtatgatcgg ggcacaaagt
     1321 ttggcctctt cactccagga tccagaattg aaagtatctt gatgtcttta cctctaactg
     1381 cccgatggga gtacatgcat tcaccctcag agaattccaa agaagctgaa attctggaag
     1441 ttctacgcca tccaagggac tgggtgcgtt gatgcaggca gaatggctgt gcaggggttt
     1501 ggagggcaca cgatgtgtgc tccccatgcc actggtcggc actttgccac tgtgtggcag
     1561 ttacccgtgc cttagtcttc tccactctgc accctacctc gtgggcagat gataacatgt
     1621 tttggatgct gtcagtgatg aatggtgaga tggcagattg tcagagtcaa ttgattaaac
     1681 ctcatttata cttctagtgt cattttatat gactagttta caaaatagga cattgagttt
     1741 ccaagtattg agataaggga atataaatag tattatatgt atcaggaaat ctctcatctt
     1801 gtttttgttt catgtatttt ttaaagtttt catttgtgcc acaaaaatct gtcgtggaat
     1861 atattttatt ttcattaatt cagtgaagtt gagacttcat agtaatttta gaatgcaact
     1921 tgaaggtaaa aattttactt tgtcaatact gaagtctctg ctgtaatcct tatatatctt
     1981 tctccagaga acataatatt gtcaaataga tacacatttt tctaataggt atttagaagc
     2041 acttgaaata atctctgcat gtgttacaat tcagttattt ctgtagtttg taaactctaa
     2101 agtgacatta ctattatttt agagatgtct aagttgtaat tttgattttt gtggaaccat
     2161 tgtttgttaa tgttgggatt ctctgcactt ttgaatgtga aagcttatat ccctgaattc
     2221 tgatacttaa gagttttcta tttcagacat ctctgtgtgg aagttgagac taagaataat
     2281 cctagggatg tcatgaattt aggcaatgtt tctcatttgg aaaatgaaat gagaaataat
     2341 ttccttcttt aaagcaagta tatatagtat gagaaacttg gaggcatttc atacacacgt
     2401 ttcttaggaa aatggacaca ttgaaaatgt cctctttttt atattagaga ttctgcagct
     2461 ctttgctctt aagagcaaat cacaacagga ttcttaatgt atgatttctt tgttcatata
     2521 ttatgaatgt attattttat ttgcttcgta ataaagttta taaggaagag catctcatac
     2581 atatcattat cgtggaacac gttgaatgtt tgtgattctg tgtggccttt ttggggctgg
     2641 aaaatgtatg aattcttcaa ctgtcttaca agagatctgc taataaattt tattattaaa
     2701 taagactaa
//
