LOCUS       NM_001122764            1733 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens protoporphyrinogen oxidase (PPOX), transcript variant
            2, mRNA.
ACCESSION   NM_001122764
VERSION     NM_001122764.3
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 1733)
  AUTHORS   Novakova,Z., Mikesova,J., Ondrakova,M., Kutil,Z., Vesela,K.,
            Martasek,P. and Barinka,C.
  TITLE     Molecular characterization of a novel His333Arg variant of human
            protoporphyrinogen oxidase IX
  JOURNAL   Biochem Biophys Res Commun 588, 182-186 (2022)
   PUBMED   34968794
  REMARK    GeneRIF: Molecular characterization of a novel His333Arg variant of
            human protoporphyrinogen oxidase IX.
REFERENCE   2  (bases 1 to 1733)
  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   3  (bases 1 to 1733)
  AUTHORS   Wang,B., Zhang,Z., Zhu,H., Niu,C., Wen,X. and Xi,Z.
  TITLE     The hydrogen bonding network involved Arg59 in human
            protoporphyrinogen IX oxidase is essential for enzyme activity
  JOURNAL   Biochem Biophys Res Commun 557, 20-25 (2021)
   PUBMED   33857841
  REMARK    GeneRIF: The hydrogen bonding network involved Arg59 in human
            protoporphyrinogen IX oxidase is essential for enzyme activity.
REFERENCE   4  (bases 1 to 1733)
  AUTHORS   de Vooght,K.M., van Wijk,R. and van Solinge,W.W.
  TITLE     GATA-1 binding sites in exon 1 direct erythroid-specific
            transcription of PPOX
  JOURNAL   Gene 409 (1-2), 83-91 (2008)
   PUBMED   18191920
  REMARK    GeneRIF: GATA-1 binding sites in exon 1 constitute key regulatory
            elements in differential expression of PPOX in erythroid and
            non-erythroid cells.
REFERENCE   5  (bases 1 to 1733)
  AUTHORS   Morgan,R.R., Errington,R. and Elder,G.H.
  TITLE     Identification of sequences required for the import of human
            protoporphyrinogen oxidase to mitochondria
  JOURNAL   Biochem J 377 (Pt 2), 281-287 (2004)
   PUBMED   14535846
  REMARK    GeneRIF: Information required for targeting to the mitochondria is
            contained within the first 250 amino acid residues of human PPOX.
REFERENCE   6  (bases 1 to 1733)
  AUTHORS   Dailey,T.A., Dailey,H.A., Meissner,P. and Prasad,A.R.
  TITLE     Cloning, sequence, and expression of mouse protoporphyrinogen
            oxidase
  JOURNAL   Arch Biochem Biophys 324 (2), 379-384 (1995)
   PUBMED   8554330
REFERENCE   7  (bases 1 to 1733)
  AUTHORS   Taketani,S., Inazawa,J., Abe,T., Furukawa,T., Kohno,H.,
            Tokunaga,R., Nishimura,K. and Inokuchi,H.
  TITLE     The human protoporphyrinogen oxidase gene (PPOX): organization and
            location to chromosome 1
  JOURNAL   Genomics 29 (3), 698-703 (1995)
   PUBMED   8575762
REFERENCE   8  (bases 1 to 1733)
  AUTHORS   Nishimura,K., Taketani,S. and Inokuchi,H.
  TITLE     Cloning of a human cDNA for protoporphyrinogen oxidase by
            complementation in vivo of a hemG mutant of Escherichia coli
  JOURNAL   J Biol Chem 270 (14), 8076-8080 (1995)
   PUBMED   7713909
REFERENCE   9  (bases 1 to 1733)
  AUTHORS   Dailey,T.A., Meissner,P. and Dailey,H.A.
  TITLE     Expression of a cloned protoporphyrinogen oxidase
  JOURNAL   J Biol Chem 269 (2), 813-815 (1994)
   PUBMED   8288631
REFERENCE   10 (bases 1 to 1733)
  AUTHORS   Singal,A.K. and Anderson,K.E.
  TITLE     Variegate Porphyria
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23409300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002357.2, BX384814.2 and
            AI357309.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 22, 2018 this sequence version replaced NM_001122764.2.
            
            Summary: This gene encodes the penultimate enzyme of heme
            biosynthesis, which catalyzes the 6-electron oxidation of
            protoporphyrinogen IX to form protoporphyrin IX. Mutations in this
            gene cause variegate porphyria, an autosomal dominant disorder of
            heme metabolism resulting from a deficiency in protoporphyrinogen
            oxidase, an enzyme located on the inner mitochondrial membrane.
            Alternatively spliced transcript variants encoding the same protein
            have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 7 encode the same protein (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 :: SRR1660809.16478.1,
                                           SRR7410571.59198.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000367999.9/
                                                  ENSP00000356978.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-186               BC002357.2         17-202
            187-247             BX384814.2         222-282
            248-1732            BC002357.2         203-1687
            1733-1733           AI357309.1         10-10               c
FEATURES             Location/Qualifiers
     source          1..1733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..1733
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /note="protoporphyrinogen oxidase"
                     /db_xref="GeneID:5498"
                     /db_xref="HGNC:HGNC:9280"
                     /db_xref="MIM:600923"
     exon            1..247
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            248..342
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..1689
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /EC_number="1.3.3.4"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="protoporphyrinogen oxidase isoform 1"
                     /protein_id="NP_001116236.1"
                     /db_xref="CCDS:CCDS1221.1"
                     /db_xref="GeneID:5498"
                     /db_xref="HGNC:HGNC:9280"
                     /db_xref="MIM:600923"
                     /translation="MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIR
                     SVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVG
                     GALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
                     LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQ
                     ALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSS
                     LEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHL
                     VPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQR
                     AQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGAS
                     YEGVAVNDCIESGRQAAVSVLGTEPNS"
     exon            343..477
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            478..593
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            594..726
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            727..871
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1062
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1123
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1242
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1353
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1503
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..1546
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1733
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1711..1716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /note="hexamer: AATAAA"
     polyA_site      1731
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP; VPCO"
                     /note="major polyA site"
ORIGIN      
        1 ggacggagcg taggagagac cgaaaaggct gggggtggga gtagcggatt tgaagcactt
       61 gttggcctac agaggtgtgg caagcagagc acctcagaac tcaggcgtac tgcccgccgc
      121 ccgagccctg cgagggccga tagcgagggt gtggccctta tctgcaccca gcagagcgcc
      181 ggcggggtac ggtcttagga cctcgatctc cttctccctc attttctctc atccctacct
      241 attgtgggtt tccgcatggg ccggaccgtg gtcgtgctgg gcggaggcat cagcggcttg
      301 gccgccagtt accacctgag ccgggccccc tgccccccta aggtggtcct agtggagagc
      361 agtgagcgtc tgggaggctg gattcgctcc gttcgaggcc ctaatggtgc tatctttgag
      421 cttggacctc ggggaattag gccagcggga gccctagggg cccggacctt gctcctggtt
      481 tctgagcttg gcttggattc agaagtgctg cctgtccggg gagaccaccc agctgcccag
      541 aacaggttcc tctacgtggg cggtgccctg catgccctac ccactggcct cagggggcta
      601 ctccgccctt cacccccctt ctccaaacct ctgttttggg ctgggctgag ggagctgacc
      661 aagccccggg gcaaagagcc tgatgagact gtgcacagtt ttgcccagcg ccgccttgga
      721 cctgaggtgg cgtctctagc catggacagt ctctgccgtg gagtgtttgc aggcaacagc
      781 cgtgagctca gcatcaggtc ctgctttccc agtctcttcc aagctgagca aacccatcgt
      841 tccatattac tgggcctgct gctgggggca gggcggaccc cacagccaga ctcagcactc
      901 attcgccagg ccttggctga gcgctggagc cagtggtcac ttcgtggagg tctagagatg
      961 ttgcctcagg cccttgaaac ccacctgact agtagggggg tcagtgttct cagaggccag
     1021 ccggtctgtg ggctcagcct ccaggcagaa gggcgctgga aggtatctct aagggacagc
     1081 agtctggagg ctgaccacgt tattagtgcc attccagctt cagtgctcag tgagctgctc
     1141 cctgctgagg ctgcccctct ggctcgtgcc ctgagtgcca tcactgcagt gtctgtagct
     1201 gtggtgaatc tgcagtacca aggagcccat ctgcctgtcc agggatttgg acatttggtg
     1261 ccatcttcag aagatccagg agtcctggga atcgtgtatg actcagttgc tttccctgag
     1321 caggacggga gcccccctgg cctcagagtg actgtgatgc tgggaggttc ctggttacag
     1381 acactggagg ctagtggctg tgtcttatct caggagctgt ttcaacagcg ggcccaggaa
     1441 gcagctgcta cacaattagg actgaaggag atgccgagcc actgcttggt ccatctacac
     1501 aagaactgca ttccccagta tacactaggt cactggcaaa aactagagtc agctaggcaa
     1561 ttcctgactg ctcacaggtt gcccctgact ctggctggag cctcctatga gggagttgct
     1621 gttaatgact gtatagagag tgggcgccag gcagcagtca gtgtcctggg cacagaacct
     1681 aacagctgat ccccaactct cattcatgaa aataaaaatt gctggagctt ggc
//
