• Gene id: 5498

Gene Summary

• Gene Symbol: PPOX   Gene   UCSC   Ensembl
• Aliases: PPO, V290M, VP
• Gene name: protoporphyrinogen oxidase
• Alternate names: protoporphyrinogen oxidase,
• Gene location: 1q23.3 (34438924: 34472059)     Exons: 13     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 600923

SNPs

rs4045481

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

Protein Summary

• Protein general information: P50336  
  • Name: Protoporphyrinogen oxidase (PPO) (EC 1.3.3.4)
  • Length: 477  
  • Mass: 50,765
• Sequence:

  MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLV
  SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFA
  QRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWS
  QWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAA
  PLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQ
  TLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGAS
  YEGVAVNDCIESGRQAAVSVLGTEPNS

• Structural information:
  • Interpro: IPR002937  IPR036188  IPR004572  
  • PDB: 3NKS 4IVM 4IVO
  • PDBsum: 3NKS 4IVM 4IVO
  • STRING: ENSP00000343943
• Other Databases: GeneCards:  PPOX  Malacards:  PPOX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	IDA	molecular function
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	TAS	molecular function
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0006779	porphyrin-containing compound biosynthetic process	IDA	biological process
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	IDA	biological process
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0031304	intrinsic component of mitochondrial inner membrane	ISS	cellular component
GO:0031305	integral component of mitochondrial inner membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IMP	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0050660	flavin adenine dinucleotide binding	TAS	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	IEA	molecular function
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	IEA	molecular function
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	IEA	molecular function
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	IDA	molecular function
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IDA	biological process
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	IDA	biological process
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0031304	intrinsic component of mitochondrial inner membrane	IEA	cellular component
GO:0031304	intrinsic component of mitochondrial inner membrane	ISS	cellular component
GO:0031305	integral component of mitochondrial inner membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IMP	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0046501	protoporphyrinogen IX metabolic process	IEA	biological process
GO:0050660	flavin adenine dinucleotide binding	TAS	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	IDA	molecular function
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity	TAS	molecular function
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0006779	porphyrin-containing compound biosynthetic process	IDA	biological process
GO:0006783	heme biosynthetic process	IDA	biological process
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0031304	intrinsic component of mitochondrial inner membrane	ISS	cellular component
GO:0031966	mitochondrial membrane	IMP	cellular component
GO:0050660	flavin adenine dinucleotide binding	TAS	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Hepatic porphyria	KEGG: H00202
Porphyria	OMIM: 600923
Male factor infertility	MIK: 24082556
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 24082556

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24082556	Male infertility		Northea st Indi a	70 (50 infertile individuals, 20 fertile donors)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881