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PPOX (protoporphyrinogen oxidase)

Identity

Alias_namesVP
variegate porphyria
Alias_symbol (synonym)PPO
Other aliasV290M
HGNC (Hugo) PPOX
LocusID (NCBI) 5498
Atlas_Id 55572
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 161166381 and ends at 161171220 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ELK1 (Xp11.23) / PPOX (1q23.3)UHMK1 (1q23.3) / PPOX (1q23.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PPOX   9280
LRG (Locus Reference Genomic)LRG_1078
Cards
Entrez_Gene (NCBI)PPOX  5498  protoporphyrinogen oxidase
AliasesPPO; V290M; VP
GeneCards (Weizmann)PPOX
Ensembl hg19 (Hinxton)ENSG00000143224 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143224 [Gene_View]  chr1:161166381-161171220 [Contig_View]  PPOX [Vega]
ICGC DataPortalENSG00000143224
TCGA cBioPortalPPOX
AceView (NCBI)PPOX
Genatlas (Paris)PPOX
WikiGenes5498
SOURCE (Princeton)PPOX
Genetics Home Reference (NIH)PPOX
Genomic and cartography
GoldenPath hg38 (UCSC)PPOX  -     chr1:161166381-161171220 +  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPOX  -     1q23.3   [Description]    (hg19-Feb_2009)
EnsemblPPOX - 1q23.3 [CytoView hg19]  PPOX - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBIPPOX [Mapview hg19]  PPOX [Mapview hg38]
OMIM176200   600923   
Gene and transcription
Genbank (Entrez)AI357309 AK094855 AK298912 AK302298 AU076582
RefSeq transcript (Entrez)NM_000309 NM_001122764 NM_001350128 NM_001350129 NM_001350130 NM_001350131
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPOX
Cluster EST : UnigeneHs.517373 [ NCBI ]
CGAP (NCI)Hs.517373
Alternative Splicing GalleryENSG00000143224
Gene ExpressionPPOX [ NCBI-GEO ]   PPOX [ EBI - ARRAY_EXPRESS ]   PPOX [ SEEK ]   PPOX [ MEM ]
Gene Expression Viewer (FireBrowse)PPOX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5498
GTEX Portal (Tissue expression)PPOX
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50336   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50336  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50336
Splice isoforms : SwissVarP50336
PhosPhoSitePlusP50336
Domains : Interpro (EBI)Amino_oxidase    FAD/NAD-binding_dom    NAD(P)-bd_dom    PPOX_C    Protoporphyrinogen_oxidase   
Domain families : Pfam (Sanger)Amino_oxidase (PF01593)   
Domain families : Pfam (NCBI)pfam01593   
Conserved Domain (NCBI)PPOX
DMDM Disease mutations5498
Blocks (Seattle)PPOX
PDB (SRS)3NKS    4IVM    4IVO   
PDB (PDBSum)3NKS    4IVM    4IVO   
PDB (IMB)3NKS    4IVM    4IVO   
PDB (RSDB)3NKS    4IVM    4IVO   
Structural Biology KnowledgeBase3NKS    4IVM    4IVO   
SCOP (Structural Classification of Proteins)3NKS    4IVM    4IVO   
CATH (Classification of proteins structures)3NKS    4IVM    4IVO   
SuperfamilyP50336
Human Protein AtlasENSG00000143224
Peptide AtlasP50336
HPRD02953
IPIIPI00031357   IPI01010465   IPI00917087   IPI01010109   IPI00909598   IPI01012638   
Protein Interaction databases
DIP (DOE-UCLA)P50336
IntAct (EBI)P50336
FunCoupENSG00000143224
BioGRIDPPOX
STRING (EMBL)PPOX
ZODIACPPOX
Ontologies - Pathways
QuickGOP50336
Ontology : AmiGOoxygen-dependent protoporphyrinogen oxidase activity  oxygen-dependent protoporphyrinogen oxidase activity  mitochondrial intermembrane space  porphyrin-containing compound biosynthetic process  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  intrinsic component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  mitochondrial membrane  response to drug  flavin adenine dinucleotide binding  oxidation-reduction process  
Ontology : EGO-EBIoxygen-dependent protoporphyrinogen oxidase activity  oxygen-dependent protoporphyrinogen oxidase activity  mitochondrial intermembrane space  porphyrin-containing compound biosynthetic process  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  intrinsic component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  mitochondrial membrane  response to drug  flavin adenine dinucleotide binding  oxidation-reduction process  
Pathways : KEGGPorphyrin and chlorophyll metabolism   
NDEx NetworkPPOX
Atlas of Cancer Signalling NetworkPPOX
Wikipedia pathwaysPPOX
Orthology - Evolution
OrthoDB5498
GeneTree (enSembl)ENSG00000143224
Phylogenetic Trees/Animal Genes : TreeFamPPOX
HOVERGENP50336
HOGENOMP50336
Homologs : HomoloGenePPOX
Homology/Alignments : Family Browser (UCSC)PPOX
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPOX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPOX
dbVarPPOX
ClinVarPPOX
1000_GenomesPPOX 
Exome Variant ServerPPOX
ExAC (Exome Aggregation Consortium)PPOX (select the gene name)
Genetic variants : HAPMAP5498
Genomic Variants (DGV)PPOX [DGVbeta]
DECIPHERPPOX [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPOX 
Mutations
ICGC Data PortalPPOX 
TCGA Data PortalPPOX 
Broad Tumor PortalPPOX
OASIS PortalPPOX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPOX  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPOX
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PPOX
DgiDB (Drug Gene Interaction Database)PPOX
DoCM (Curated mutations)PPOX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPOX (select a term)
intoGenPPOX
Cancer3DPPOX(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176200    600923   
Orphanet11499   
MedgenPPOX
Genetic Testing Registry PPOX
NextProtP50336 [Medical]
TSGene5498
GENETestsPPOX
Target ValidationPPOX
Huge Navigator PPOX [HugePedia]
snp3D : Map Gene to Disease5498
BioCentury BCIQPPOX
ClinGenPPOX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5498
Chemical/Pharm GKB GenePA33608
Clinical trialPPOX
Miscellaneous
canSAR (ICR)PPOX (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPOX
EVEXPPOX
GoPubMedPPOX
iHOPPPOX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:25:58 CEST 2017

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