PDXK

Protein identityUniProt · HPA

UniProt accession

O00764

Gene

PDXK

Ensembl

ENSG00000160209

Chromosome

21

Canonical length

312 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

312 residues, UniProt reviewed canonical sequence.

>O00764|PDXK
     1  MEEECRVLSI QSHVIRGYVG NRAATFPLQV LGFEIDAVNS VQFSNHTGYA HWKGQVLNSD
    61  ELQELYEGLR LNNMNKYDYV LTGYTRDKSF LAMVVDIVQE LKQQNPRLVY VCDPVLGDKW
   121  DGEGSMYVPE DLLPVYKEKV VPLADIITPN QFEAELLSGR KIHSQEEALR VMDMLHSMGP
   181  DTVVITSSDL PSPQGSNYLI VLGSQRRRNP AGSVVMERIR MDIRKVDAVF VGTGDLFAAM
   241  LLAWTHKHPN NLKVACEKTV STLHHVLQRT IQCAKAQAGE GVRPSPMQLE LRMVQSKRDI
   301  EDPEIVVQAT VL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDXK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

73 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDXK.

Disease | AllUniProt

Conditions PDXK is implicated in, by any mechanism.

• Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) MIM:618511

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 104 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
• PDXK-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.44

gnomAD pLI

0.75

gnomAD missense Z

1.87

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• pyridoxamine metabolic process
• pyridoxal 5'-phosphate salvage
• pyridoxal metabolic process

Molecular functions

• ATP binding
• lithium ion binding
• magnesium ion binding
• potassium ion binding
• protein homodimerization activity
• pyridoxal phosphate binding
• sodium ion binding
• zinc ion binding
• pyridoxal kinase activity

Cellular components

• cytosol
• extracellular exosome
• extracellular region
• nucleoplasm
• nucleus
• secretory granule lumen
• specific granule lumen

Protein domainsUniProt · Pfam · InterPro

• Ribokinase-like
• Pyridoxine kinase
• Pyridoxamine kinase/Phosphomethylpyrimidine kinase
• Phosphomethylpyrimidine kinase

KeywordsUniProt

• Acetylation
• ATP-binding
• Charcot-Marie-Tooth disease
• Cobalt
• Cytoplasm
• Kinase
• Magnesium
• Manganese
• Metal-binding
• Neurodegeneration
• Neuropathy
• Nucleotide-binding
• Phosphoprotein
• Sodium
• Transferase
• Zinc