PPOX (protoporphyrinogen oxidase)

2016-01-01 Affiliation

Identity

HGNC

PPOX

LOCATION

1q23.3

LOCUSID

5498

ALIAS

PPO,V290M,VP

FUSION GENES

Show Gene Fusions

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

Other Information

Locus ID:

NCBI: 5498
MIM: 600923
HGNC: 9280
Ensembl: ENSG00000143224

Variants:

dbSNP: 5498
ClinVar: 5498
TCGA: ENSG00000143224
COSMIC: PPOX

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000143224	ENST00000352210	P50336
ENSG00000143224	ENST00000367999	P50336
ENSG00000143224	ENST00000462866	A0A1W2PQM0
ENSG00000143224	ENST00000470607	A0A1W2PRF9
ENSG00000143224	ENST00000495483	A0A1W2PNH4
ENSG00000143224	ENST00000497522	A0A1W2PPA5
ENSG00000143224	ENST00000535223	F5H825
ENSG00000143224	ENST00000537523	H0YFP3
ENSG00000143224	ENST00000537829	H0YFE1
ENSG00000143224	ENST00000539753	F5H1I5
ENSG00000143224	ENST00000544598	F5GZT7
ENSG00000143224	ENST00000650741	A0A494C1M8
ENSG00000143224	ENST00000651150	A0A494C0L4
ENSG00000143224	ENST00000652100	A0A494C0C8
ENSG00000143224	ENST00000652103	A0A494C0D4
ENSG00000143224	ENST00000652182	A0A494C146
ENSG00000143224	ENST00000652297	A0A494C134
ENSG00000143224	ENST00000652473	D3DVG2
ENSG00000143224	ENST00000652729	A0A494C0M9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Porphyrin and chlorophyll metabolism	KEGG	ko00860
Porphyrin and chlorophyll metabolism	KEGG	hsa00860
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of porphyrins	REACTOME	R-HSA-189445
Heme biosynthesis	REACTOME	R-HSA-189451

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166190681	givosiran	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
21048046	2011	Structural insight into human variegate porphyria disease.	15
14669009	2004	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.	9
12556518	2003	Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.	8
16621625	2006	Mitochondrial targeting of human protoporphyrinogen oxidase.	7
23467411	2013	Quantitative structural insight into human variegate porphyria disease.	7
14535846	2004	Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria.	6
18191920	2008	GATA-1 binding sites in exon 1 direct erythroid-specific transcription of PPOX.	3
25944804	2015	Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.	3
16947091	2006	Swiss patients with variegate porphyria have unique mutations.	2

Citation

Dessen P

PPOX (protoporphyrinogen oxidase)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55572/ppox