PNPO

GENERAL INFORMATION

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Gene name

PNPO

Gene description

Pyridoxamine 5'-phosphate oxidase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic and nuclear expression at variable levels in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA023204 , HPA027776
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Thyroid gland

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PNPO (HGNC Symbol)

Synonyms

PDXPO

Description

Pyridoxamine 5'-phosphate oxidase (HGNC Symbol)

Entrez gene summary

The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]

Chromosome

17

Cytoband

q21.32

Chromosome location (bp)

47941506 - 47948288

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108439 (version 78.38)

Entrez gene

55163

UniProt

Q9NVS9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NVS9

Antibodypedia

PNPO antibodies


PROTEIN BROWSER

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ENST00000225573
 
ENST00000434554
 
ENST00000583599
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPO-001 ENSP00000225573
ENST00000225573
Q9NVS9
Show all »
Show » Show » 261 30 No 0
PNPO-002 ENSP00000399960
ENST00000434554
Q9NVS9
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Show » Show » 218 25.2 No 0
PNPO-008 ENSP00000463919
ENST00000583599
J3QQV6
Show all »
Show » Show » 120 13.9 No 0