PNPO (pyridoxamine 5-phosphate oxidase)

2004-11-01  

Identity

HGNC
PNPO
LOCATION
17q21.32
LOCUSID
55163
ALIAS
HEL-S-302,PDXPO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55163
MIM: 603287
HGNC: 30260
Ensembl: ENSG00000108439

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108439ENST00000225573Q9NVS9
ENSG00000108439ENST00000434554Q9NVS9
ENSG00000108439ENST00000582171Q9NVS9
ENSG00000108439ENST00000583599J3QQV6
ENSG00000108439ENST00000584061J3QQZ9
ENSG00000108439ENST00000585320Q9NVS9
ENSG00000108439ENST00000641323A0A286YF38
ENSG00000108439ENST00000641511A0A286YFL3
ENSG00000108439ENST00000641703A0A286YF16
ENSG00000108439ENST00000641709A0A286YFA1
ENSG00000108439ENST00000641856Q9NVS9
ENSG00000108439ENST00000642017Q9NVS9
ENSG00000108439ENST00000642017V9HW45

Expression (GTEx)

0
5
10
15
20
25
30
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

PathwaySourceExternal ID
Vitamin B6 metabolismKEGGko00750
Vitamin B6 metabolismKEGGhsa00750
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamins B6 activation to pyridoxal phosphateREACTOMER-HSA-964975

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375070192023Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain.0
375070192023Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain.0
328881892021Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.16
347694432021Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.2
328881892021Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.16
347694432021Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.2
327886302020Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.15
327886302020Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.15
309827802019Pyridoxine 5'-phosphate oxidase is correlated with human breast invasive ductal carcinoma development.10
309827802019Pyridoxine 5'-phosphate oxidase is correlated with human breast invasive ductal carcinoma development.10
288185552017Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.17
292380812017Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.22
288185552017Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.17
292380812017Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.22
265357292015Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.6

Citation

Dessen P

PNPO (pyridoxamine 5-phosphate oxidase)

Atlas Genet Cytogenet Oncol Haematol. 2004-11-01

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