U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PPOX protoporphyrinogen oxidase [ Homo sapiens (human) ]

Gene ID: 5498, updated on 22-Sep-2022

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; 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

See PPOX in Genome Data Viewer
Location:
1q23.3
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161165728..161178013)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160303883..160308676)
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 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 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

Homology

Clone Names

  • MGC8485

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables flavin adenine dinucleotide binding TAS
Traceable Author Statement
more info
PubMed 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables oxygen-dependent protoporphyrinogen oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables oxygen-dependent protoporphyrinogen oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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
    P50336, Q5VTW8
    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
    P50336, Q5VTW8
    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
    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
    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
    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
    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
    UniProtKB/Swiss-Prot
    Q5VTW8
    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
    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
    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
    Conserved Domains (1) summary
    TIGR00562
    Location:4309
    proto_IX_ox; protoporphyrinogen oxidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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

    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

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

    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
    160303883..160308676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)