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. [provide... See more...

Aliases for PDXK Gene

Aliases for PDXK Gene

  • Pyridoxal Kinase 2 3 4 5
  • PKH 2 3 4
  • PNK 2 3 4
  • Pyridoxal (Pyridoxine, Vitamin B6) Kinase 2 3
  • Pyridoxine Kinase 3 4
  • EC 2.7.1.35 4 51
  • C21orf124 3 4
  • C21orf97 3 4
  • PRED79 2 3
  • Epididymis Secretory Sperm Binding Protein Li 1a 3
  • Chromosome 21 Open Reading Frame 124 2
  • Chromosome 21 Open Reading Frame 97 2
  • Pyridoxamine Kinase 3
  • Vitamin B6 Kinase 3
  • HEL-S-1a 3
  • FLJ21324 2
  • FLJ31940 2
  • MGC15873 2
  • HMSN6C 3
  • PDXK 5

External Ids for PDXK Gene

Previous HGNC Symbols for PDXK Gene

  • C21orf97
  • C21orf124

Previous GeneCards Identifiers for PDXK Gene

  • GC21P041648
  • GC21P043996
  • GC21P043997
  • GC21P043998
  • GC21P043964
  • GC21P043965
  • GC21P045138
  • GC21P030506

Summaries for PDXK Gene

Entrez Gene Summary for PDXK 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]

GeneCards Summary for PDXK Gene

PDXK (Pyridoxal Kinase) is a Protein Coding gene. Diseases associated with PDXK include Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy and Polyneuropathy. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin B6 metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding.

UniProtKB/Swiss-Prot Summary for PDXK Gene

  • 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 (PubMed:9099727, PubMed:10987144, PubMed:17766369, PubMed:19351586, PubMed:31187503) (Probable). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions.

Gene Wiki entry for PDXK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDXK Gene

Genomics for PDXK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDXK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDXK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDXK

Top Transcription factor binding sites by QIAGEN in the PDXK gene promoter:
  • AP-1
  • Arnt
  • ATF-2
  • c-Jun
  • c-Myc
  • HEN1
  • HNF-1
  • HNF-1A
  • Max1
  • Sox9

Genomic Locations for PDXK Gene

Genomic Locations for PDXK Gene
chr21:43,719,094-43,762,307
(GRCh38/hg38)
Size:
43,214 bases
Orientation:
Plus strand
chr21:45,138,975-45,182,188
(GRCh37/hg19)
Size:
43,214 bases
Orientation:
Plus strand

Genomic View for PDXK Gene

Genes around PDXK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDXK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDXK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDXK Gene

Proteins for PDXK Gene

  • Protein details for PDXK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00764-PDXK_HUMAN
    Recommended name:
    Pyridoxal kinase
    Protein Accession:
    O00764
    Secondary Accessions:
    • Q7Z2Y0
    • Q9BS02

    Protein attributes for PDXK Gene

    Size:
    312 amino acids
    Molecular mass:
    35102 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Cofactor:
    Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PDXK Gene

    Alternative splice isoforms for PDXK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDXK Gene

Selected DME Specific Peptides for PDXK Gene

O00764:
  • HVLQRTI
  • ADIITPN
  • VFVGTGDLFAAMLLAWTHKHP
  • LSIQSHV
  • YDYVLTGYTRDKSFLAMVVDIV

Post-translational modifications for PDXK Gene

  • Ubiquitination at Lys139, Lys76, and Lys275
  • Modification sites at PhosphoSitePlus

Domains & Families for PDXK Gene

Gene Families for PDXK Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PDXK Gene

Suggested Antigen Peptide Sequences for PDXK Gene

GenScript: Design optimal peptide antigens:
  • Pyridoxine kinase (PDXK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00764

UniProtKB/Swiss-Prot:

PDXK_HUMAN :
  • Belongs to the pyridoxine kinase family.
Family:
  • Belongs to the pyridoxine kinase family.
genes like me logo Genes that share domains with PDXK: view

Function for PDXK Gene

Molecular function for PDXK Gene

UniProtKB/Swiss-Prot 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 (PubMed:9099727, PubMed:10987144, PubMed:17766369, PubMed:19351586, PubMed:31187503) (Probable). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + pyridoxal = ADP + H(+) + pyridoxal 5'-phosphate; Xref=Rhea:RHEA:10224, ChEBI:CHEBI:15378, ChEBI:CHEBI:17310, ChEBI:CHEBI:30616, ChEBI:CHEBI:456216, ChEBI:CHEBI:597326; EC=2.7.1.35; Evidence={ECO:0000269|PubMed:10987144, ECO:0000269|PubMed:17766369, ECO:0000269|PubMed:19351586, ECO:0000269|PubMed:31187503, ECO:0000269|PubMed:9099727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + pyridoxamine = ADP + H(+) + pyridoxamine 5'-phosphate; Xref=Rhea:RHEA:25104, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57761, ChEBI:CHEBI:58451, ChEBI:CHEBI:456216; EC=2.7.1.35; Evidence={ECO:0000305|PubMed:17766369};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + pyridoxine = ADP + H(+) + pyridoxine 5'-phosphate; Xref=Rhea:RHEA:25108, ChEBI:CHEBI:15378, ChEBI:CHEBI:16709, ChEBI:CHEBI:30616, ChEBI:CHEBI:58589, ChEBI:CHEBI:456216; EC=2.7.1.35; Evidence={ECO:0000305|PubMed:17766369};.
UniProtKB/Swiss-Prot Induction:
Transcriptionally regulated by Sp1 transcription factor.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.3 uM for pyridoxal (in the presence of K(+)) {ECO:0000269|PubMed:9099727}; KM=14.5 uM for pyridoxal (in the presence of K(+)) {ECO:0000269|PubMed:31187503}; KM=97 uM for pyridoxal (in the presence of K(+)) {ECO:0000269|PubMed:10987144}; KM=75 uM for pyridoxal (in the presence of Na(+)) {ECO:0000269|PubMed:17766369}; KM=24 uM for pyridoxal (in the presence of Na(+)) {ECO:0000269|PubMed:19351586}; KM=58 uM for pyridoxal (in the presence of Na(+)) {ECO:0000269|Ref.16}; KM=12 uM for MgATP (in the presence of K(+)) {ECO:0000269|PubMed:10987144}; KM=500 uM for MgATP (in the presence of Na(+)) {ECO:0000269|PubMed:17766369}; KM=190 uM for MgATP (in the presence of Na(+)) {ECO:0000269|PubMed:19351586}; Note=KM is <10 uM for pyridoxal (in the presence of K(+)) (PubMed:17766369). KM is <25 uM for MgATP (in the presence of K(+)) (PubMed:17766369). kcat is 200 min(-1) for phosphorylase activity using PL as substrate in the presence of Na(+). kcat is 85 min(-1) for phosphorylase activity using PL as substrate in the presence of K(+) (PubMed:17766369). kcat is 200 min(-1) for phosphorylase activity using PL as substrate in the presence of Na(+). kcat is 85 min(-1) for phosphorylase activity using PL as substrate in the presence of K(+) (PubMed:17766369). kcat is 29 min(-1) for phosphorylase activity using PL as substrate in the presence of Na(+) (PubMed:19351586). {ECO:0000269|PubMed:17766369, ECO:0000269|PubMed:19351586}; pH dependence: Optimum pH is 5.5-6.0. {ECO:0000269|PubMed:10987144};
UniProtKB/Swiss-Prot EnzymeRegulation:
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).
GENATLAS Biochemistry:
pyridoxal kinase,ubiquitously expressed,repressed by ligands of the benzodiazepine receptor

Enzyme Numbers (IUBMB) for PDXK Gene

Phenotypes From GWAS Catalog for PDXK Gene

Gene Ontology (GO) - Molecular Function for PDXK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 17766369
GO:0005524 ATP binding IEA,IDA 16600635
GO:0008270 zinc ion binding IDA 10987144
GO:0008478 pyridoxal kinase activity IEA,IMP 31187503
genes like me logo Genes that share ontologies with PDXK: view
genes like me logo Genes that share phenotypes with PDXK: view

Human Phenotype Ontology for PDXK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDXK Gene

MGI Knock Outs for PDXK:
  • Pdxk Pdxk<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PDXK

CRISPR Products

miRNA for PDXK Gene

miRTarBase miRNAs that target PDXK

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDXK

No data available for Transcription Factor Targets and HOMER Transcription for PDXK Gene

Localization for PDXK Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDXK Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDXK gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endosome 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDXK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PDXK: view

Pathways & Interactions for PDXK Gene

genes like me logo Genes that share pathways with PDXK: view

Pathways by source for PDXK Gene

UniProtKB/Swiss-Prot O00764-PDXK_HUMAN

  • Pathway: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxal: step 1/1.
  • Pathway: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxine 5'-phosphate from pyridoxine: step 1/1.
  • Pathway: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxamine 5'-phosphate from pyridoxamine: step 1/1.

Gene Ontology (GO) - Biological Process for PDXK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009443 pyridoxal 5'-phosphate salvage IEA,IMP 31187503
GO:0016310 phosphorylation IEA --
GO:0042816 vitamin B6 metabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with PDXK: view

No data available for SIGNOR curated interactions for PDXK Gene

Drugs & Compounds for PDXK Gene

(15) Drugs for PDXK Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxine Approved, Investigational, Vet_approved Nutra Target, Enzyme, ligand, substrate 229,229
Magnesium Approved, Experimental, Investigational Pharma 0
Potassium Approved, Experimental Pharma 0
Pyridoxal Phosphate Approved, Investigational Nutra 16
Pyridoxal Experimental Nutra Target 226

(6) Additional Compounds for PDXK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with PDXK: view

Transcripts for PDXK Gene

mRNA/cDNA for PDXK Gene

3 REFSEQ mRNAs :
39 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDXK

Alternative Splicing Database (ASD) splice patterns (SP) for PDXK Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - -
SP3: - -
SP4:
SP5: - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - -
SP8: - -
SP9: - - -
SP10: - - - - - - - - -
SP11:
SP12: -
SP13: - - - - -

ExUns: 18a · 18b · 18c · 18d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PDXK Gene

GeneLoc Exon Structure for
PDXK

Expression for PDXK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDXK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDXK Gene

This gene is overexpressed in Nasopharynx (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDXK Gene



Protein tissue co-expression partners for PDXK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDXK

SOURCE GeneReport for Unigene cluster for PDXK Gene:

Hs.284491

mRNA Expression by UniProt/SwissProt for PDXK Gene:

O00764-PDXK_HUMAN
Tissue specificity: Ubiquitous (PubMed:9099727, PubMed:31187503). Highly expressed in testis (PubMed:9099727).

Evidence on tissue expression from TISSUES for PDXK Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Eye(4.5)
  • Lung(4)
  • Intestine(3.2)
  • Pancreas(3.1)
  • Bone marrow(3)
  • Kidney(3)
  • Blood(2.8)
  • Heart(2.8)
  • Spleen(2.7)
  • Skin(2.7)
  • Muscle(2.7)
  • Lymph node(2.6)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with PDXK: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDXK Gene

Orthologs for PDXK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDXK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PDXK 30 31
  • 98.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDXK 30 31
  • 86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pdxk 30 17 31
  • 84.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDXK 30 31
  • 84.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdxk 30
  • 83.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia PDXK 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PDXK 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDXK 30 31
  • 75.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDXK 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdxk 30
  • 70.44 (n)
Zebrafish
(Danio rerio)
Actinopterygii PDXK (1 of 3) 31
  • 74 (a)
OneToMany
LOC100535341 30
  • 69.3 (n)
pdxkb 31
  • 67 (a)
OneToMany
pdxka 31
  • 65 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.60 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG34455 30 31
  • 55.94 (n)
OneToOne
CG4446 32
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005929 30
  • 55.37 (n)
Worm
(Caenorhabditis elegans)
Secernentea F57C9.1 30 31
  • 51.13 (n)
OneToOne
F57C9.1b 32
  • 40 (a)
F57C9.1a 32
  • 39 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD16 31 33
  • 34 (a)
OneToMany
BUD17 31
  • 32 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SOS4 30
  • 51.9 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0600400 30
  • 52.36 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.27523 30
Corn
(Zea mays)
Liliopsida Zm.3752 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8531 31
  • 59 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4083 30
Species where no ortholog for PDXK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PDXK Gene

ENSEMBL:
Gene Tree for PDXK (if available)
TreeFam:
Gene Tree for PDXK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDXK: view image

Paralogs for PDXK Gene

(2) SIMAP similar genes for PDXK Gene using alignment to 5 proteins:

  • PDXK_HUMAN
  • A8MT14_HUMAN
  • A8MV33_HUMAN
  • F2Z2Y4_HUMAN
  • G1UI32_HUMAN

Pseudogenes.org Pseudogenes for PDXK Gene

genes like me logo Genes that share paralogs with PDXK: view

No data available for Paralogs for PDXK Gene

Variants for PDXK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDXK Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
636264 Pathogenic: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY 43,753,642(+) G/A MISSENSE_VARIANT
636265 Pathogenic: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY 43,753,619(+) G/A MISSENSE_VARIANT
812519 Pathogenic: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY 43,741,749(+) T/A MISSENSE_VARIANT
VAR_083156 Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) [MIM:618511] p.Arg220Gln
VAR_083157 Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) [MIM:618511] p.Ala228Thr

Additional dbSNP identifiers (rs#s) for PDXK Gene

Structural Variations from Database of Genomic Variants (DGV) for PDXK Gene

Variant ID Type Subtype PubMed ID
dgv7874n54 CNV gain 21841781
dgv7875n54 CNV loss 21841781
dgv7876n54 CNV loss 21841781
dgv7877n54 CNV loss 21841781
esv1717308 CNV insertion 17803354
esv25264 CNV loss 19812545
esv2664281 CNV deletion 23128226
esv33771 CNV gain 17666407
esv33817 CNV loss 17666407
esv3557791 CNV deletion 23714750
esv3647111 CNV loss 21293372
nsv1072187 CNV deletion 25765185
nsv1150161 CNV deletion 26484159
nsv459291 CNV loss 19166990
nsv470904 CNV loss 18288195
nsv509799 CNV insertion 20534489
nsv520305 CNV loss 19592680
nsv587703 CNV loss 21841781
nsv587704 CNV loss 21841781
nsv587711 CNV loss 21841781
nsv587712 CNV loss 21841781
nsv587716 CNV loss 21841781
nsv587717 CNV loss 21841781
nsv834107 CNV loss 17160897
nsv834108 CNV loss 17160897
nsv953642 CNV deletion 24416366

Variation tolerance for PDXK Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDXK Gene

Human Gene Mutation Database (HGMD)
PDXK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDXK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDXK Gene

Disorders for PDXK Gene

MalaCards: The human disease database

(7) MalaCards diseases for PDXK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PDXK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDXK_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for PDXK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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No data available for Genatlas for PDXK Gene

Publications for PDXK Gene

  1. Human pyridoxal kinase. cDNA cloning, expression, and modulation by ligands of the benzodiazepine receptor. (PMID: 9099727) Hanna MC … Kirkness EF (The Journal of biological chemistry 1997) 2 3 4 23
  2. Kinetic and structural studies of the role of the active site residue Asp235 of human pyridoxal kinase. (PMID: 19351586) Gandhi AK … Safo MK (Biochemical and biophysical research communications 2009) 3 4 23
  3. Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. (PMID: 20035503) Elstner M … Turnbull DM (Annals of neurology 2009) 3 23 41
  4. Crystal Structure of human pyridoxal kinase: structural basis of M(+) and M(2+) activation. (PMID: 17766369) Musayev FN … Safo MK (Protein science : a publication of the Protein Society 2007) 3 4 23
  5. Crystal structure of human pyridoxal kinase. (PMID: 16600635) Cao P … Jiang T (Journal of structural biology 2006) 3 4 23

Products for PDXK Gene