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    PPOX protoporphyrinogen oxidase [ Homo sapiens (human) ]

    Gene ID: 5498, updated on 11-Apr-2024

    Summary

    Official Symbol
    PPOXprovided by HGNC
    Official Full Name
    protoporphyrinogen oxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:9280
    See related
    Ensembl:ENSG00000143224 MIM:600923; AllianceGenome:HGNC:9280
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VP; PPO; VPCO; V290M
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.3), skin (RPKM 3.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1q23.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161165728..161178013)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160303185..160315736)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161136216..161141010)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:161123368-161124567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1470 Neighboring gene ubiquitin-fold modifier conjugating enzyme 1 Neighboring gene ubiquitin specific peptidase 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161137271-161137934 Neighboring gene beta-1,4-galactosyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1471 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:161146985-161147484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161148623-161149124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1983 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161162728-161163541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161166678-161167583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161170109-161170830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1985 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161187006-161187992 Neighboring gene Fc epsilon receptor Ig

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC8485

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in heme A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme B biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme O biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heme biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in porphyrin-containing compound biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    protoporphyrinogen oxidase
    NP_000300.1
    NP_001116236.1
    NP_001337057.1
    NP_001337058.1
    NP_001337059.1
    NP_001337060.1
    NP_001352327.1
    NP_001352328.1
    NP_001352329.1
    NP_001352330.1
    XP_005245348.2
    XP_005245352.2
    XP_006711467.3
    XP_011507965.1
    XP_011507966.1
    XP_011507967.1
    XP_011507969.1
    XP_011507970.1
    XP_011507972.1
    XP_011507973.1
    XP_011507974.2
    XP_011507975.1
    XP_011507976.1
    XP_011507980.1
    XP_016857055.1
    XP_024303632.2
    XP_047279525.1
    XP_047279537.1
    XP_047279548.1
    XP_047279560.1
    XP_054193244.1
    XP_054193245.1
    XP_054193246.1
    XP_054193247.1
    XP_054193248.1
    XP_054193249.1
    XP_054193250.1
    XP_054193251.1
    XP_054193252.1
    XP_054193253.1
    XP_054193254.1
    XP_054193255.1
    XP_054193256.1
    XP_054193257.1
    XP_054193258.1
    XP_054193259.1
    XP_054193260.1
    XP_054193261.1
    XP_054193262.1
    XP_054193263.1
    XP_054193264.1
    XP_054193265.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012877.2 RefSeqGene

      Range
      5036..9830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1078

    mRNA and Protein(s)

    1. NM_000309.5NP_000300.1  protoporphyrinogen oxidase isoform 1

      See identical proteins and their annotated locations for NP_000300.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 7 encode the same protein (isoform 1).
      Source sequence(s)
      AI357309, BC002357
      Consensus CDS
      CCDS1221.1
      UniProtKB/Swiss-Prot
      D3DVG0, P50336, Q5VTW8
      UniProtKB/TrEMBL
      A0A494C146
      Related
      ENSP00000343943.5, ENST00000352210.9
      Conserved Domains (1) summary
      TIGR00562
      Location:3471
      proto_IX_ox; protoporphyrinogen oxidase
    2. NM_001122764.3NP_001116236.1  protoporphyrinogen oxidase isoform 1

      See identical proteins and their annotated locations for NP_001116236.1

      Status: REVIEWED

      Description
      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).
      Source sequence(s)
      AI357309, BC002357, BX384814
      Consensus CDS
      CCDS1221.1
      UniProtKB/Swiss-Prot
      D3DVG0, P50336, Q5VTW8
      UniProtKB/TrEMBL
      A0A494C146
      Related
      ENSP00000356978.4, ENST00000367999.9
      Conserved Domains (1) summary
      TIGR00562
      Location:3471
      proto_IX_ox; protoporphyrinogen oxidase
    3. NM_001350128.2NP_001337057.1  protoporphyrinogen oxidase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AI357309, AL590714, BC002357, BX384814, DC399187
      UniProtKB/TrEMBL
      A0A494C0D4, B4DY76
      Conserved Domains (1) summary
      cl27533
      Location:3438
      HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
    4. NM_001350129.2NP_001337058.1  protoporphyrinogen oxidase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: Variants 4 and 9 encode the same protein (isoform 3).
      Source sequence(s)
      AI357309, BC002357, DA061615, DA745403, DC399187
      UniProtKB/TrEMBL
      A0A494C0D4
      Conserved Domains (1) summary
      TIGR00562
      Location:30335
      proto_IX_ox; protoporphyrinogen oxidase
    5. NM_001350130.2NP_001337059.1  protoporphyrinogen oxidase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: Variants 5, 6 and 10 encode the same protein (isoform 4).
      Source sequence(s)
      AI357309, BC002357, EL954312
      UniProtKB/TrEMBL
      A0A494C0D4
      Conserved Domains (1) summary
      TIGR00562
      Location:4309
      proto_IX_ox; protoporphyrinogen oxidase
    6. NM_001350131.2NP_001337060.1  protoporphyrinogen oxidase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: Variants 5, 6 and 10 encode the same protein (isoform 4).
      Source sequence(s)
      AI357309, BC002357, DA268550
      UniProtKB/TrEMBL
      A0A494C0D4
      Conserved Domains (1) summary
      TIGR00562
      Location:4309
      proto_IX_ox; protoporphyrinogen oxidase
    7. NM_001365398.1NP_001352327.1  protoporphyrinogen oxidase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1, 2 and 7 encode the same protein (isoform 1).
      Source sequence(s)
      AL590714
      Consensus CDS
      CCDS1221.1
      UniProtKB/Swiss-Prot
      D3DVG0, P50336, Q5VTW8
      UniProtKB/TrEMBL
      A0A494C146
      Conserved Domains (1) summary
      TIGR00562
      Location:3471
      proto_IX_ox; protoporphyrinogen oxidase
    8. NM_001365399.1NP_001352328.1  protoporphyrinogen oxidase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL590714
      UniProtKB/TrEMBL
      A0A494C146
      Related
      ENSP00000498884.1, ENST00000652182.1
      Conserved Domains (1) summary
      COG1232
      Location:5434
      HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
    9. NM_001365400.1NP_001352329.1  protoporphyrinogen oxidase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: Variants 4 and 9 encode the same protein (isoform 3).
      Source sequence(s)
      AL590714
      UniProtKB/TrEMBL
      A0A494C0D4
      Conserved Domains (1) summary
      TIGR00562
      Location:30335
      proto_IX_ox; protoporphyrinogen oxidase
    10. NM_001365401.1NP_001352330.1  protoporphyrinogen oxidase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: Variants 5, 6 and 10 encode the same protein (isoform 4).
      Source sequence(s)
      AL590714
      UniProtKB/TrEMBL
      A0A494C0D4
      Conserved Domains (1) summary
      TIGR00562
      Location:4309
      proto_IX_ox; protoporphyrinogen oxidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161165728..161178013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423581.1XP_047279537.1  protoporphyrinogen oxidase isoform X5

    2. XM_011509674.3XP_011507976.1  protoporphyrinogen oxidase isoform X12

      Conserved Domains (2) summary
      COG1232
      Location:43317
      HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
      pfam13450
      Location:45103
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
    3. XM_011509670.3XP_011507972.1  protoporphyrinogen oxidase isoform X6

      Conserved Domains (2) summary
      pfam13450
      Location:45103
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:232366
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. XM_011509673.3XP_011507975.1  protoporphyrinogen oxidase isoform X11

      Conserved Domains (2) summary
      pfam13450
      Location:45103
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:182316
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    5. XM_011509663.3XP_011507965.1  protoporphyrinogen oxidase isoform X1

      Conserved Domains (2) summary
      pfam13450
      Location:45103
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:270404
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    6. XM_011509665.3XP_011507967.1  protoporphyrinogen oxidase isoform X3

      Conserved Domains (2) summary
      pfam13450
      Location:45103
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:270404
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    7. XM_011509664.2XP_011507966.1  protoporphyrinogen oxidase isoform X2

      Conserved Domains (2) summary
      pfam13450
      Location:45103
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:265399
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    8. XM_047423569.1XP_047279525.1  protoporphyrinogen oxidase isoform X4

    9. XM_011509671.2XP_011507973.1  protoporphyrinogen oxidase isoform X9

      UniProtKB/TrEMBL
      A0A494C146
      Conserved Domains (3) summary
      TIGR00562
      Location:41509
      proto_IX_ox; protoporphyrinogen oxidase
      pfam13450
      Location:45103
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:265399
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    10. XM_011509672.4XP_011507974.2  protoporphyrinogen oxidase isoform X10

      UniProtKB/TrEMBL
      B4DY76
    11. XM_006711404.5XP_006711467.3  protoporphyrinogen oxidase isoform X8

    12. XM_024447864.2XP_024303632.2  protoporphyrinogen oxidase isoform X13

      Related
      ENSP00000498501.1, ENST00000652103.1
    13. XM_011509667.3XP_011507969.1  protoporphyrinogen oxidase isoform X5

      See identical proteins and their annotated locations for XP_011507969.1

      Conserved Domains (2) summary
      pfam13450
      Location:765
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:232366
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    14. XM_005245291.5XP_005245348.2  protoporphyrinogen oxidase isoform X7

      See identical proteins and their annotated locations for XP_005245348.2

      Conserved Domains (2) summary
      pfam13450
      Location:765
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:227361
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    15. XM_011509668.3XP_011507970.1  protoporphyrinogen oxidase isoform X5

      See identical proteins and their annotated locations for XP_011507970.1

      Conserved Domains (2) summary
      pfam13450
      Location:765
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:232366
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    16. XM_005245295.4XP_005245352.2  protoporphyrinogen oxidase isoform X14

      See identical proteins and their annotated locations for XP_005245352.2

      UniProtKB/TrEMBL
      B3KT30
      Conserved Domains (1) summary
      TIGR00562
      Location:30236
      proto_IX_ox; protoporphyrinogen oxidase
    17. XM_011509678.2XP_011507980.1  protoporphyrinogen oxidase isoform X14

      See identical proteins and their annotated locations for XP_011507980.1

      UniProtKB/TrEMBL
      B3KT30
      Conserved Domains (1) summary
      TIGR00562
      Location:30236
      proto_IX_ox; protoporphyrinogen oxidase
    18. XM_017001566.3XP_016857055.1  protoporphyrinogen oxidase isoform X15

      UniProtKB/TrEMBL
      A0A494C0D4
      Conserved Domains (1) summary
      TIGR00562
      Location:30335
      proto_IX_ox; protoporphyrinogen oxidase
    19. XM_047423604.1XP_047279560.1  protoporphyrinogen oxidase isoform X16

    20. XM_047423592.1XP_047279548.1  protoporphyrinogen oxidase isoform X14

    RNA

    1. XR_007061329.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160303185..160315736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337275.1XP_054193250.1  protoporphyrinogen oxidase isoform X5

    2. XM_054337282.1XP_054193257.1  protoporphyrinogen oxidase isoform X12

    3. XM_054337276.1XP_054193251.1  protoporphyrinogen oxidase isoform X6

    4. XM_054337281.1XP_054193256.1  protoporphyrinogen oxidase isoform X11

    5. XM_054337269.1XP_054193244.1  protoporphyrinogen oxidase isoform X1

    6. XM_054337271.1XP_054193246.1  protoporphyrinogen oxidase isoform X3

    7. XM_054337270.1XP_054193245.1  protoporphyrinogen oxidase isoform X2

    8. XM_054337272.1XP_054193247.1  protoporphyrinogen oxidase isoform X4

    9. XM_054337279.1XP_054193254.1  protoporphyrinogen oxidase isoform X9

    10. XM_054337280.1XP_054193255.1  protoporphyrinogen oxidase isoform X10

      UniProtKB/TrEMBL
      B4DY76
    11. XM_054337278.1XP_054193253.1  protoporphyrinogen oxidase isoform X8

    12. XM_054337284.1XP_054193259.1  protoporphyrinogen oxidase isoform X13

    13. XM_054337273.1XP_054193248.1  protoporphyrinogen oxidase isoform X5

    14. XM_054337277.1XP_054193252.1  protoporphyrinogen oxidase isoform X7

    15. XM_054337274.1XP_054193249.1  protoporphyrinogen oxidase isoform X5

    16. XM_054337288.1XP_054193263.1  protoporphyrinogen oxidase isoform X14

    17. XM_054337286.1XP_054193261.1  protoporphyrinogen oxidase isoform X14

    18. XM_054337283.1XP_054193258.1  protoporphyrinogen oxidase isoform X17

    19. XM_054337287.1XP_054193262.1  protoporphyrinogen oxidase isoform X14

    20. XM_054337285.1XP_054193260.1  protoporphyrinogen oxidase isoform X18

    21. XM_054337289.1XP_054193264.1  protoporphyrinogen oxidase isoform X15

    22. XM_054337290.1XP_054193265.1  protoporphyrinogen oxidase isoform X16

    RNA

    1. XR_008486082.1 RNA Sequence