PNPO (pyridoxamine 5-phosphate oxidase)

2004-11-01 Affiliation

Identity

HGNC

PNPO

LOCATION

17q21.32

LOCUSID

55163

ALIAS

HEL-S-302,PDXPO

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: 55163
MIM: 603287
HGNC: 30260
Ensembl: ENSG00000108439

Variants:

dbSNP: 55163
ClinVar: 55163
TCGA: ENSG00000108439
COSMIC: PNPO

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108439	ENST00000225573	Q9NVS9
ENSG00000108439	ENST00000434554	Q9NVS9
ENSG00000108439	ENST00000582171	Q9NVS9
ENSG00000108439	ENST00000583599	J3QQV6
ENSG00000108439	ENST00000584061	J3QQZ9
ENSG00000108439	ENST00000585320	Q9NVS9
ENSG00000108439	ENST00000641323	A0A286YF38
ENSG00000108439	ENST00000641511	A0A286YFL3
ENSG00000108439	ENST00000641703	A0A286YF16
ENSG00000108439	ENST00000641709	A0A286YFA1
ENSG00000108439	ENST00000641856	Q9NVS9
ENSG00000108439	ENST00000642017	Q9NVS9
ENSG00000108439	ENST00000642017	V9HW45

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
Vitamin B6 metabolism	KEGG	ko00750
Vitamin B6 metabolism	KEGG	hsa00750
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Vitamins B6 activation to pyridoxal phosphate	REACTOME	R-HSA-964975

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
15772097	2005	Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.	55
22949513	2012	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.	42
24645144	2014	Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.	33
24658933	2014	Pyridoxine responsiveness in novel mutations of the PNPO gene.	17
15182361	2004	Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5'-phosphate oxidase.	14
18485777	2008	PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.	14
19759001	2009	Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.	12
21283685	2011	It takes two to tango: defining an essential second active site in pyridoxal 5'-phosphate synthase.	11
29238081	2017	Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.	7
28818555	2017	Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.	6

Citation

Dessen P

PNPO (pyridoxamine 5-phosphate oxidase)

Atlas Genet Cytogenet Oncol Haematol. 2004-11-01

Online version: http://atlasgeneticsoncology.org/gene/42948/pnpo