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Aliases for PPOX Gene

Aliases for PPOX Gene

  • Protoporphyrinogen Oxidase 2 3 5
  • PPO 3 4
  • Variegate Porphyria 2
  • EC 1.3.3.4 4
  • V290M 3
  • VP 3

External Ids for PPOX Gene

Previous HGNC Symbols for PPOX Gene

  • VP

Previous GeneCards Identifiers for PPOX Gene

  • GC01P158847
  • GC01P156868
  • GC01P157914
  • GC01P158352
  • GC01P157949
  • GC01P159402
  • GC01P161136
  • GC01P132493

Summaries for PPOX Gene

Entrez Gene Summary for PPOX Gene

  • 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]

GeneCards Summary for PPOX Gene

PPOX (Protoporphyrinogen Oxidase) is a Protein Coding gene. Diseases associated with PPOX include porphyria variegata and diabetes insipidus, neurohypophyseal. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include oxidoreductase activity and oxygen-dependent protoporphyrinogen oxidase activity.

UniProtKB/Swiss-Prot for PPOX Gene

  • Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.

Gene Wiki entry for PPOX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPOX Gene

Genomics for PPOX Gene

Regulatory Elements for PPOX Gene

Promoters for PPOX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PPOX on UCSC Golden Path with GeneCards custom track

Genomic Location for PPOX Gene

Chromosome:
1
Start:
161,165,728 bp from pter
End:
161,178,277 bp from pter
Size:
12,550 bases
Orientation:
Plus strand

Genomic View for PPOX Gene

Genes around PPOX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPOX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPOX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPOX Gene

Proteins for PPOX Gene

  • Protein details for PPOX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50336-PPOX_HUMAN
    Recommended name:
    Protoporphyrinogen oxidase
    Protein Accession:
    P50336
    Secondary Accessions:
    • D3DVG0
    • Q5VTW8

    Protein attributes for PPOX Gene

    Size:
    477 amino acids
    Molecular mass:
    50765 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer. Homodimer.

    Three dimensional structures from OCA and Proteopedia for PPOX Gene

neXtProt entry for PPOX Gene

Proteomics data for PPOX Gene at MOPED

Post-translational modifications for PPOX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PPOX Gene

Domains & Families for PPOX Gene

Protein Domains for PPOX Gene

Graphical View of Domain Structure for InterPro Entry

P50336

UniProtKB/Swiss-Prot:

PPOX_HUMAN :
  • Belongs to the protoporphyrinogen oxidase family.
Family:
  • Belongs to the protoporphyrinogen oxidase family.
genes like me logo Genes that share domains with PPOX: view

No data available for Gene Families for PPOX Gene

Function for PPOX Gene

Molecular function for PPOX Gene

GENATLAS Biochemistry:
protoporphyrinogen oxidase,catalyzing protoporphyrin formation,seventh step of porphyrin biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
Protoporphyrinogen-IX + 3 O(2) = protoporphyrin-IX + 3 H(2)O(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.

Enzyme Numbers (IUBMB) for PPOX Gene

genes like me logo Genes that share phenotypes with PPOX: view

Human Phenotype Ontology for PPOX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PPOX Gene

miRTarBase miRNAs that target PPOX

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PPOX Gene

Localization for PPOX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPOX Gene

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPOX Gene COMPARTMENTS Subcellular localization image for PPOX gene
Compartment Confidence
mitochondrion 5
cytosol 3
chloroplast 2
extracellular 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PPOX: view

Pathways & Interactions for PPOX Gene

genes like me logo Genes that share pathways with PPOX: view

Pathways by source for PPOX Gene

UniProtKB/Swiss-Prot P50336-PPOX_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrin-IX from protoporphyrinogen-IX: step 1/1.

Gene Ontology (GO) - Biological Process for PPOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006783 heme biosynthetic process IEA,TAS --
GO:0042493 response to drug IEA --
GO:0046501 protoporphyrinogen IX metabolic process IEA --
genes like me logo Genes that share ontologies with PPOX: view

No data available for SIGNOR curated interactions for PPOX Gene

Drugs & Compounds for PPOX Gene

(9) Drugs for PPOX Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Protoporphyrin IX Experimental Pharma 6
heme Pharma Agonist 0
Hydrogen peroxide Pharma 46

(17) Additional Compounds for PPOX Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Protoporphyrinogen IX
  • 5,10,15,20,22,24-Hexahydro protoporphyrin IX deriv.
  • 7,12-Diethenyl-3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,18-dipropanoate
  • 7,12-Diethenyl-3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,18-dipropanoic acid
  • 7,12-Diethenyl-5,10,15,20,22,24-hexahydro-3,8,13,17-tetramethyl-21h,23h-porphine-2,18-dipropanoate
  • 7,12-Diethenyl-5,10,15,20,22,24-hexahydro-3,8,13,17-tetramethyl-21h,23h-porphine-2,18-dipropanoic acid
7412-77-3
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PPOX: view

Transcripts for PPOX Gene

Unigene Clusters for PPOX Gene

Protoporphyrinogen oxidase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PPOX Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - -
SP2:
SP3: -
SP4:
SP5: - - - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - -
SP8: -
SP9: - - - -
SP10:
SP11: -
SP12: - -
SP13:

ExUns: 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PPOX Gene

GeneLoc Exon Structure for
PPOX
ECgene alternative splicing isoforms for
PPOX

Expression for PPOX Gene

mRNA expression in normal human tissues for PPOX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPOX Gene

This gene is overexpressed in Nasal epithelium (62.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPOX Gene



SOURCE GeneReport for Unigene cluster for PPOX Gene Hs.517373

mRNA Expression by UniProt/SwissProt for PPOX Gene

P50336-PPOX_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with PPOX: view

Protein tissue co-expression partners for PPOX Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PPOX Gene

Orthologs for PPOX Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPOX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPOX 35
  • 89.45 (n)
  • 91.61 (a)
PPOX 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPOX 35
  • 88.33 (n)
  • 89.31 (a)
PPOX 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppox 35
  • 85.53 (n)
  • 88.68 (a)
Ppox 16
Ppox 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPOX 35
  • 99.72 (n)
  • 100 (a)
PPOX 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppox 35
  • 85.26 (n)
  • 87.63 (a)
oppossum
(Monodelphis domestica)
Mammalia PPOX 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPOX 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppox 35
  • 56 (n)
  • 51.48 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24954 35
zebrafish
(Danio rerio)
Actinopterygii ppox 35
  • 56.31 (n)
  • 54.47 (a)
ppox 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta protoporphyrinogen-oxidase 37
  • 36 (a)
Ppox 35
  • 44.93 (n)
  • 38.95 (a)
Ppox 36
  • 37 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003704 35
  • 47.84 (n)
  • 40.88 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR021W 35
  • 39.94 (n)
  • 28.88 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11616g 35
  • 41.16 (n)
  • 31.15 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM14 35
  • 40.71 (n)
  • 27.98 (a)
HEM14 36
  • 22 (a)
OneToOne
HEM14 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PPOX 35
  • 43.34 (n)
  • 32.56 (a)
rice
(Oryza sativa)
Liliopsida Os01g0286600 35
  • 42.22 (n)
  • 32.41 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09113 35
  • 42.04 (n)
  • 31.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem14 35
  • 41.99 (n)
  • 34.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
CSA.6925 36
  • 34 (a)
OneToMany
Species with no ortholog for PPOX:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPOX Gene

ENSEMBL:
Gene Tree for PPOX (if available)
TreeFam:
Gene Tree for PPOX (if available)

Paralogs for PPOX Gene

No data available for Paralogs for PPOX Gene

Variants for PPOX Gene

Sequence variations from dbSNP and Humsavar for PPOX Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_003686 Variegate porphyria (VP)
VAR_003687 Variegate porphyria (VP)
VAR_003688 Variegate porphyria (VP)
VAR_003689 Variegate porphyria (VP)
rs36013429 - 161,169,948(-) GGGCA(C/T)GAGCC intron-variant, reference, missense

Variation tolerance for PPOX Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPOX Gene

HapMap Linkage Disequilibrium report
PPOX
Human Gene Mutation Database (HGMD)
PPOX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PPOX Gene

Disorders for PPOX Gene

MalaCards: The human disease database

(12) MalaCards diseases for PPOX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria variegata
  • variegate porphyria
diabetes insipidus, neurohypophyseal
  • neurohypophyseal diabetes insipidus
porphyria
  • disorder of porphyrin and hem metabolism
porphyria, acute intermittent
  • porphyria, acute intermittent, nonerythroid variant
protoporphyria, erythropoietic, autosomal recessive
  • erythropoietic protoporphyria
- elite association - COSMIC cancer census association via MalaCards
Search PPOX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPOX_HUMAN
  • Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. {ECO:0000269 PubMed:10486317, ECO:0000269 PubMed:10870850, ECO:0000269 PubMed:11074242, ECO:0000269 PubMed:11102990, ECO:0000269 PubMed:11286631, ECO:0000269 PubMed:11348478, ECO:0000269 PubMed:11350188, ECO:0000269 PubMed:11474578, ECO:0000269 PubMed:12380696, ECO:0000269 PubMed:12655566, ECO:0000269 PubMed:12859407, ECO:0000269 PubMed:14669009, ECO:0000269 PubMed:16433813, ECO:0000269 PubMed:16922948, ECO:0000269 PubMed:16947091, ECO:0000269 PubMed:18350656, ECO:0000269 PubMed:18570668, ECO:0000269 PubMed:19320019, ECO:0000269 PubMed:23430901, ECO:0000269 PubMed:24073655, ECO:0000269 PubMed:8673113, ECO:0000269 PubMed:8817334, ECO:0000269 PubMed:8852667, ECO:0000269 PubMed:9541112, ECO:0000269 PubMed:9763307, ECO:0000269 PubMed:9811936}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations leading to severe PPOX deficiency cause the rare homozygous variant form of VP. Missense mutations that preserve 10%-25% of wild-type activity may not cause clinically overt VP in heterozygotes (PubMed:9811936). Mutations with intermediate effect on catalytic activity may cause VP, but with a low clinical penetrance (PubMed:10486317). {ECO:0000269 PubMed:10486317, ECO:0000269 PubMed:9811936}.

Relevant External Links for PPOX

Genetic Association Database (GAD)
PPOX
Human Genome Epidemiology (HuGE) Navigator
PPOX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPOX
genes like me logo Genes that share disorders with PPOX: view

No data available for Genatlas for PPOX Gene

Publications for PPOX Gene

  1. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. (PMID: 7713909) Nishimura K. … Inokuchi H. (J. Biol. Chem. 1995) 3 4 23 67
  2. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. (PMID: 10457135) Frank J. … Christiano A.M. (Clin. Exp. Dermatol. 1999) 2 3 23
  3. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. (PMID: 8575762) Taketani S. … Inokuchi H. (Genomics 1995) 2 3 23
  4. Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications. (PMID: 19656457) Van Tuyll Van Serooskerke A.M. … Minder E.I. (Cell. Mol. Biol. (Noisy-le-grand) 2009) 3 23
  5. GATA-1 binding sites in exon 1 direct erythroid-specific transcription of PPOX. (PMID: 18191920) de Vooght K.M. … van Solinge W.W. (Gene 2008) 3 23

Products for PPOX Gene

Sources for PPOX Gene

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