PDXK
entrez
8566
canonical
uniprot
O00764
canonical
ensembl
ENSG00000160209
resolver
ensp
ENSP00000291565
resolver
ensp
ENSP00000420708
resolver
enst
ENST00000467908
resolver
genesymbol
HEL-S-1a
resolver
genesymbol
PDXK
resolver
genesymbol_syn
C21orf124
resolver
genesymbol_syn
C21orf97
resolver
genesymbol_syn
PKH
resolver
genesymbol_syn
PNK
resolver
hgnc
HGNC:8819
resolver
uniprot
F2Z2Y4
resolver
uniprot
Q7Z2Y0
resolver
uniprot
Q9BS02
resolver
uniprot
V9HWC3
resolver
uniprot_entry
F2Z2Y4_HUMAN
resolver
uniprot_entry
PDXK_HUMAN
resolver
uniprot_entry
V9HWC3_HUMAN
resolver
uniprot_sec
Q7Z2Y0
resolver
uniprot_sec
Q9BS02
resolver
activity_regulation
ACTIVITY REGULATION: Catalytic activity is inhibited competitively by 4-deoxypyridoxine, and is also inhibited by the benzodiazepine receptor ligands 1012S and ethyl-beta-carboline-3-carboxylate (PubMed:9099727). Inhibited by ginkgotoxin, theophylline, lamotrigine, enprofylline, theobromine, and caffeine (PubMed:22879864). Activity is increased in the presence of K(+)or Na(+) (PubMed:17766369). {ECO:0000269|PubMed:17766369, ECO:0000269|PubMed:22879864, ECO:0000269|PubMed:9099727}.
uniprot
proteins
amino_acid_sequence
MEEECRVLSIQSHVIRGYVGNRAATFPLQVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL
uniprot
proteins
disease_involvement
DISEASE: Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) [MIM:618511]: An autosomal recessive neurologic disorder characterized by childhood onset of axonal, sensorimotor polyneuropathy affecting mainly the lower limbs, and adult-onset optic atrophy. Clinical features include progressive distal muscle weakness and atrophy, significant standing and walking difficulties, areflexia, neurogenic pain and progressive visual impairment. {ECO:0000269|PubMed:31187503}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.35
uniprot
proteins
function
FUNCTION: Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probable) (PubMed:10987144, PubMed:17766369, PubMed:19351586, PubMed:31187503, PubMed:9099727). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions. {ECO:0000269|PubMed:10987144, ECO:0000269|PubMed:17766369, ECO:0000269|PubMed:19351586, ECO:0000269|PubMed:31187503, ECO:0000269|PubMed:9099727, ECO:0000305}.
uniprot
proteins
mass_dalton
35102
uniprot
proteins
mutagenesis
MUTAGEN 235; /note="D->A: 15-fold decrease in pyridoxal kinase activity, and a 7-fold decrease in affinity for pyridoxal."; /evidence="ECO:0000269|PubMed:19351586"; MUTAGEN 235; /note="D->N: 2-fold decrease in pyridoxal kinase activity and pyridoxal affinity."; /evidence="ECO:0000269|PubMed:19351586
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxal: step 1/1. {ECO:0000269|PubMed:31187503, ECO:0000305|PubMed:17766369}.; PATHWAY: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxine 5'-phosphate from pyridoxine: step 1/1. {ECO:0000305|PubMed:17766369}.; PATHWAY: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxamine 5'-phosphate from pyridoxamine: step 1/1. {ECO:0000305|PubMed:17766369}.
uniprot
proteins
protein_family
Pyridoxine kinase family
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
10987144
uniprot
proteins
pubmed
15154080
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16600635
uniprot
proteins
pubmed
17766369
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19351586
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22879864
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28716709
uniprot
proteins
pubmed
31187503
uniprot
proteins
pubmed
9099727
uniprot
proteins
sequence_length
312
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:9099727}.
uniprot
proteins