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PPOX protoporphyrinogen oxidase [ Homo sapiens (human) ]

Gene ID: 5498, updated on 11-Sep-2019

Summary

Official Symbol
PPOXprovided by HGNC
Official Full Name
protoporphyrinogen oxidaseprovided by HGNC
Primary source
HGNC:HGNC:9280
See related
Ensembl:ENSG00000143224 MIM:600923
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; 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

Genomic context

See PPOX in Genome Data Viewer
Location:
1q23.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161165824..161178277)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161135832..161148136)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene linc-UFC1 Neighboring gene ubiquitin-fold modifier conjugating enzyme 1 Neighboring gene ubiquitin specific peptidase 21 Neighboring gene beta-1,4-galactosyltransferase 3 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 4 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S2 Neighboring gene Fc fragment of IgE 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 BioSystems

  • Heme Biosynthesis, organism-specific biosystem (from WikiPathways)
    Heme Biosynthesis, organism-specific biosystemThe enzymatic process that produces heme is properly called porphyrin synthesis, as all the intermediates are tetrapyrroles that are chemically classified are porphyrins. The process is highly conser...
  • Heme biosynthesis, organism-specific biosystem (from REACTOME)
    Heme biosynthesis, organism-specific biosystemEight enzymes are involved in heme biosynthesis, four each in the mitochondria and the cytosol. The process starts in the mitochondria with the condensation of succinyl CoA (from the TCA cycle) and g...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of porphyrins, organism-specific biosystem (from REACTOME)
    Metabolism of porphyrins, organism-specific biosystemPorphyrins are heterocyclic macrocycles, consisting of four pyrrole subunits (tetrapyrrole) linked by four methine (=CH-) bridges. The extensive conjugated porphyrin macrocycle is chromatic and the n...
  • Porphyrin and chlorophyll metabolism, organism-specific biosystem (from KEGG)
    Porphyrin and chlorophyll metabolism, organism-specific biosystem
    Porphyrin and chlorophyll metabolism
  • Porphyrin and chlorophyll metabolism, conserved biosystem (from KEGG)
    Porphyrin and chlorophyll metabolism, conserved biosystem
    Porphyrin and chlorophyll metabolism
  • heme biosynthesis, organism-specific biosystem (from BIOCYC)
    heme biosynthesis, organism-specific biosystemGeneral Background Heme (protoheme, heme b) is an iron-containing porphyrin, that belongs to the family of macrocyclic tetrapyrroles. It has a diverse range of biological functions as a prosthetic g...
  • heme biosynthesis I (aerobic), conserved biosystem (from BIOCYC)
    heme biosynthesis I (aerobic), conserved biosystemGeneral Background |FRAME: Hemes Heme| (protoheme, heme b) is an iron-containing prosthetic group found in many essential proteins including cytochromes and heme-containing globins. In addition to i...
  • heme biosynthesis from uroporphyrinogen-III I, organism-specific biosystem (from BIOCYC)
    heme biosynthesis from uroporphyrinogen-III I, organism-specific biosystemGeneral Background : Hemes Heme (protoheme, heme b) is an iron-containing prosthetic group found in many essential proteins including cytochromes and heme-containing globins. In addition to its role...
  • superpathway of heme biosynthesis from glycine, conserved biosystem (from BIOCYC)
    superpathway of heme biosynthesis from glycine, conserved biosystemGeneral Background Heme (protoheme, heme b) is an iron-containing prosthetic group found in many essential proteins including cytochromes and heme-containing globins. In addition to its role in oxi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8485

Gene Ontology Provided by GOA

Function Evidence Code Pubs
flavin adenine dinucleotide binding TAS
Traceable Author Statement
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen-dependent protoporphyrinogen oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen-dependent protoporphyrinogen oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
heme biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
porphyrin-containing compound biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic component of mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
 
mitochondrial membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
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_006711465.2
XP_006711466.2
XP_006711467.2
XP_006711469.2
XP_011507965.1
XP_011507966.1
XP_011507967.1
XP_011507968.1
XP_011507969.1
XP_011507970.1
XP_011507972.1
XP_011507973.1
XP_011507974.1
XP_011507975.1
XP_011507976.1
XP_011507980.1
XP_011507981.1
XP_011507983.1
XP_011507984.1
XP_016857048.1
XP_016857051.1
XP_016857052.1
XP_016857053.1
XP_016857055.1
XP_016857056.1
XP_016857059.1
XP_016857060.1
XP_024303632.1
XP_024303633.1
XP_024303634.1
XP_024303635.1

NCBI Reference Sequences (RefSeq)

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)

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
    P50336
    Related
    ENSP00000343943.5, ENST00000352210.9
    Conserved Domains (1) summary
    cl27533
    Location:3471
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  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
    P50336
    Related
    ENSP00000356978.4, ENST00000367999.9
    Conserved Domains (1) summary
    cl27533
    Location:3471
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  3. NM_001350128.2NP_001337057.1  protoporphyrinogen oxidase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI357309, AL590714, BC002357, BX384814, DC399187
    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
    Conserved Domains (1) summary
    cl27533
    Location:30335
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  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
    Conserved Domains (1) summary
    cl27533
    Location:4309
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  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
    Conserved Domains (1) summary
    cl27533
    Location:4309
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  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
  8. NM_001365399.1NP_001352328.1  protoporphyrinogen oxidase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL590714
    Related
    ENSP00000498884.1, ENST00000652182.1
  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
  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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    161165824..161178277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001571.1XP_016857060.1  protoporphyrinogen oxidase isoform X22

  2. XM_011509674.2XP_011507976.1  protoporphyrinogen oxidase isoform X14

    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_011509666.2XP_011507968.1  protoporphyrinogen oxidase isoform X4

    Conserved Domains (3) summary
    COG1232
    Location:43399
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
    pfam13450
    Location:45103
    NAD_binding_8; NAD(P)-binding Rossmann-like domain
    cl21454
    Location:270371
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  4. XM_011509670.2XP_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
  5. XM_011509673.2XP_011507975.1  protoporphyrinogen oxidase isoform X12

    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
  6. XM_011509663.2XP_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
  7. XM_011509665.2XP_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
  8. XM_017001559.1XP_016857048.1  protoporphyrinogen oxidase isoform X10

  9. XM_011509672.3XP_011507974.1  protoporphyrinogen oxidase isoform X11

    Conserved Domains (3) summary
    TIGR00562
    Location:41476
    proto_IX_ox; protoporphyrinogen oxidase
    pfam13450
    Location:45103
    NAD_binding_8; NAD(P)-binding Rossmann-like domain
    cl21454
    Location:232366
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  10. XM_006711404.4XP_006711467.2  protoporphyrinogen oxidase isoform X8

  11. XM_024447864.1XP_024303632.1  protoporphyrinogen oxidase isoform X16

    Related
    ENSP00000498501.1, ENST00000652103.1
    Conserved Domains (1) summary
    cl27533
    Location:41426
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  12. XM_006711406.2XP_006711469.2  protoporphyrinogen oxidase isoform X17

    See identical proteins and their annotated locations for XP_006711469.2

    Conserved Domains (1) summary
    cl27533
    Location:30236
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  13. XM_011509664.1XP_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
  14. XM_011509671.1XP_011507973.1  protoporphyrinogen oxidase isoform X9

    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
  15. XM_006711403.2XP_006711466.2  protoporphyrinogen oxidase isoform X7

    See identical proteins and their annotated locations for XP_006711466.2

    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
  16. XM_011509678.1XP_011507980.1  protoporphyrinogen oxidase isoform X17

    See identical proteins and their annotated locations for XP_011507980.1

    Conserved Domains (1) summary
    cl27533
    Location:30236
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  17. XM_024447866.1XP_024303634.1  protoporphyrinogen oxidase isoform X17

    Conserved Domains (1) summary
    cl27533
    Location:30236
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  18. XM_017001563.2XP_016857052.1  protoporphyrinogen oxidase isoform X18

    Conserved Domains (1) summary
    cl21454
    Location:65199
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  19. XM_011509667.2XP_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
  20. XM_006711402.2XP_006711465.2  protoporphyrinogen oxidase isoform X5

    See identical proteins and their annotated locations for XP_006711465.2

    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
  21. XM_017001566.2XP_016857055.1  protoporphyrinogen oxidase isoform X19

    Conserved Domains (1) summary
    cl27533
    Location:30335
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  22. XM_024447867.1XP_024303635.1  protoporphyrinogen oxidase isoform X19

    Conserved Domains (1) summary
    cl27533
    Location:30335
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  23. XM_005245291.4XP_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
  24. XM_017001570.1XP_016857059.1  protoporphyrinogen oxidase isoform X21

    Conserved Domains (1) summary
    cl21454
    Location:2127
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  25. XM_011509682.1XP_011507984.1  protoporphyrinogen oxidase isoform X21

    Conserved Domains (1) summary
    cl21454
    Location:2127
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  26. XM_005245295.3XP_005245352.2  protoporphyrinogen oxidase isoform X17

    See identical proteins and their annotated locations for XP_005245352.2

    Conserved Domains (1) summary
    cl27533
    Location:30236
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  27. XM_017001567.1XP_016857056.1  protoporphyrinogen oxidase isoform X19

    Conserved Domains (1) summary
    cl27533
    Location:30335
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  28. XM_011509681.1XP_011507983.1  protoporphyrinogen oxidase isoform X18

    Conserved Domains (1) summary
    cl21454
    Location:65199
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  29. XM_024447865.1XP_024303633.1  protoporphyrinogen oxidase isoform X17

    Conserved Domains (1) summary
    cl27533
    Location:30236
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  30. XM_017001562.1XP_016857051.1  protoporphyrinogen oxidase isoform X17

    Conserved Domains (1) summary
    cl27533
    Location:30236
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  31. XM_011509679.1XP_011507981.1  protoporphyrinogen oxidase isoform X17

    See identical proteins and their annotated locations for XP_011507981.1

    Conserved Domains (1) summary
    cl27533
    Location:30236
    HemY; Protoporphyrinogen oxidase [Coenzyme transport and metabolism]
  32. XM_011509668.2XP_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
  33. XM_017001564.1XP_016857053.1  protoporphyrinogen oxidase isoform X18

    Conserved Domains (1) summary
    cl21454
    Location:65199
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. XR_921850.2 RNA Sequence

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