InnateDB Protein
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IDBP-104209.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PPOX
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Protein Name
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protoporphyrinogen oxidase
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Synonyms
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PPO; V290M; VP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000356978
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InnateDB Gene
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IDBG-104205 (PPOX)
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Protein Structure
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Function |
Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX. {ECO:0000269PubMed:21048046, ECO:0000269PubMed:23467411, ECO:0000269PubMed:7713909}.
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Subcellular Localization |
Mitochondrion inner membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Intermembrane side {ECO:0000250}.
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Disease Associations |
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:0000269PubMed:10486317, ECO:0000269PubMed:10870850, ECO:0000269PubMed:11074242, ECO:0000269PubMed:11102990, ECO:0000269PubMed:11286631, ECO:0000269PubMed:11348478, ECO:0000269PubMed:11350188, ECO:0000269PubMed:11474578, ECO:0000269PubMed:12380696, ECO:0000269PubMed:12655566, ECO:0000269PubMed:12859407, ECO:0000269PubMed:14669009, ECO:0000269PubMed:16433813, ECO:0000269PubMed:16922948, ECO:0000269PubMed:16947091, ECO:0000269PubMed:18350656, ECO:0000269PubMed:18570668, ECO:0000269PubMed:19320019, ECO:0000269PubMed:23430901, ECO:0000269PubMed:24073655, ECO:0000269PubMed:8673113, ECO:0000269PubMed:8817334, ECO:0000269PubMed:8852667, ECO:0000269PubMed:9541112, ECO:0000269PubMed:9763307, ECO:0000269PubMed: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:0000269PubMed:10486317, ECO:0000269PubMed:9811936}.
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Tissue Specificity |
Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0004729
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oxygen-dependent protoporphyrinogen oxidase activity
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GO:0016491
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oxidoreductase activity
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GO:0050660
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flavin adenine dinucleotide binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002937
Amine oxidase
IPR004572
Protoporphyrinogen oxidase
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PFAM |
PF01593
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P50336
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PhosphoSite |
PhosphoSite-P50336
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TrEMBL |
Q96TC9
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UniProt Splice Variant |
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Entrez Gene |
5498
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UniGene |
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RefSeq |
NP_001116236
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HUGO |
HGNC:9280
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OMIM |
600923
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CCDS |
CCDS1221
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HPRD |
02953
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IMGT |
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EMBL |
AL590714
AY032686
AY032687
AY032688
BC002357
CH471121
D38537
U26446
X99450
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GenPept |
AAA67690
AAH02357
AAK50375
AAK50376
BAA07538
CAH72144
EAW52636
EAW52639
EAW52641
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