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PDXK Gene

protein-coding   GIFtS: 62

GC21P030506
pyridoxal (pyridoxine, vitamin B6) kinase
(Previous names: chromosome 21 open reading frame 97, chromosome 21 open reading frame 124 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: C21orf97, C21orf124)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase, and/or 9Nature:405,311-319 and CroW21)
About This Section

Aliases & Descriptions
pyridoxal (pyridoxine, vitamin B6) kinase1 2     FLJ213241
PKH1 2 3 5     pyridoxal kinase2
PNK1 2 3 5     MGC523462
FLJ319401 2     vitamin B6 kinase2
MGC158731 2     DKFZp566A0712
Pyridoxine kinase2 3     pyridoxamine kinase2
C21orf972 3     MGC317542
C21orf1242 3     FLJ373112
chromosome 21 open reading frame 1241     EC 2.7.1.353
chromosome 21 open reading frame 971     human pyridoxal kinase, EC 2.7.1.359
PRED791     

External Ids:    HGNC: 88191   Entrez Gene: 85662   Ensembl: ENSG000001602097   UniProtKB: O007643   

Export aliases for PDXK gene to outside databases

Previous GC identifers: GC21P041648 GC21P043996 GC21P043997 GC21P043998 GC21P043964 GC21P043965 GC21P045138


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDXK:
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)

UniProtKB/Swiss-Prot: PDXK_HUMAN, O00764
Function: Required for synthesis of pyridoxal-5-phosphate from vitamin B6

Gene Wiki entry for PDXK

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDXK gene promoter:
         AP-1   ATF-2   MEF-2A   Hlf   YY1   RSRFC4   HSF2   HSF1 (long)   p53   MZF-1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PDXK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PDXK 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
PDXK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDXK gene location
GeneLoc gene densities for chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P030506:   GeneLoc Nature:405,311-319
Start:
30,506,765 bp from pter       30,648,562 bp from centromere
End:
30,550,585 bp from pter 30,685,351 bp from centromere
Size:
43,821 bases 36,790 bases
Orientation:
plus strand plus strand

1 alternative location:
Chr21+ 45,138,975-45,194,151     
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  

Whole chromosome sequencing:
cDNA sequence: U89606
genomic clones: KB22A5


(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PDXK_HUMAN, O00764 (See protein sequence)
Recommended Name: Pyridoxal kinase  
Size: 312 amino acids; 35102 Da
Cofactor: Divalent cations. Zinc is more efficient than magnesium
Subunit: Homodimer (Probable)
Subcellular location: Cytoplasm
PDB structures from and Proteopedia :
2AJP (3D)    2F7K (3D)    2YXT (3D)    2YXU (3D)    3FHX (3D)    3FHY (3D)    3KBI (3D)    3KEU (3D)    
Secondary accessions: Q7Z2Y0 Q9BS02
Alternative splicing: 3 isoforms:  O00764-1   O00764-2   O00764-3   

Explore the universe of human proteins at neXtProt for PDXK: NX_O00764 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_003672.1  

    ENSEMBL proteins: 
    ENSP00000420708 ENSP00000418543 ENSP00000333624 ENSP00000418359 ENSP00000383250 ENSP00000291565 
    ENSP00000381155 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PDXK
    OriGene Protein Over-expression Lysate: PDXK
    GenScript Custom Purified and Recombinant Proteins Services for PDXK 
    Novus Biologicals Proteins for PDXK
    Novus Biologicals Lysates for PDXK
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol IDA16780588
    About this table

    PDXK for ontologies           About GeneDecksing



    Antibodies for PDXK: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for PDXK
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for PDXK 
    Novus Biologicals Antibodies for PDXK
    Browse antibodies at Epitomics

    Assays for PDXK: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PDXK 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PDXK 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PDXK for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011611 Carb/pur_kinase
     IPR004625 PyrdxlP_synth_PyrdxlKinase

    Graphical View of Domain Structure for InterPro Entry O00764

    ProtoNet protein and cluster: O00764

    UniProtKB/Swiss-Prot: PDXK_HUMAN, O00764
    Similarity: Belongs to the pyridoxine kinase family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: PDXK_HUMAN, O00764
    Function: Required for synthesis of pyridoxal-5-phosphate from vitamin B6
    Catalytic activity: ATP + pyridoxal = ADP + pyridoxal 5'-phosphate
    Biophysicochemical properties: pH dependence: Optimum pH is 5.5-6.0;
    Enzyme Number (IUBMB): EC 2.7.1.35 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for PDXK
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PDXK
    Sigma-Aldrich shRNA Panels and shRNA for PDXK
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PDXK
    OriGene shRNA RFP (see all 2): PDXK
    OriGene basic RS shRNA (see all 2): PDXK
    OriGene siRNA: PDXK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PDXK 
    miRNA:Sigma-Aldrich microRNA Mimics for PDXK
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PDXK 
    2 SABiosciences Assays for microRNAs that regulate PDXK:
    hsa-miR-513a-5p hsa-miR-220c

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PDXK
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PDXK
    OriGene untagged cDNA clones in CMV expression vector: PDXK
    OriGene 3'-UTR clone: PDXK 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PDXK 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for PDXK 

    Genatlas biochemistry entry for PDXK:
    pyridoxal kinase,ubiquitously expressed,repressed by ligands of the benzodiazepine receptor

    5/11 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0000287 magnesium ion binding IDA17766369
    GO:0005524 ATP binding IDA16600635
    GO:0008270 zinc ion binding IDA10987144
    GO:0008478 pyridoxal kinase activity IDA17766369
    About this table

    PDXK for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    PDXK for pathways           About GeneDecksing

    2 Kegg Pathways  (Kegg details for PDXK):
        hsa00750 Vitamin B6 metabolism
    hsa01100 Metabolic pathways

        SABiosciences Custom Pathway-Focused PCR Arrays for PDXK 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDXK

    3 Interacting proteins for PDXK (ENSP000002915653 O007642) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042MINT-3304733
    AOX1ENSP000003638323STRING: ENSP00000363832
    PNPOENSP000002255733STRING: ENSP00000225573
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008283 cell proliferation IDA10930737
    GO:0008615 pyridoxine biosynthetic process IEA--
    GO:0042816 vitamin B6 metabolic process IC17766369
    GO:0042823 pyridoxal phosphate biosynthetic process IDA10987144
    About this table

    PDXK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    PDXK for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PDXK
    10/12 Novoseek chemical compound relationships for PDXK gene (see all 12)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyridoxal 97.6 125 10987144 (6), 16600635 (5), 9099727 (4), 10930737 (4) (see all 50)
    pyridoxine 5-phosphate 91 6 14568555 (2), 2160474 (1), 16207494 (1), 18510874 (1) (see all 5)
    pyridoxamine 90.1 7 10024608 (1), 2160474 (1), 15249053 (1), 17766369 (1) (see all 6)
    pyridoxal 5-phosphate 89.2 30 1666321 (2), 14688239 (2), 14568555 (1), 9354586 (1) (see all 17)
    vitamin b6 88.7 42 2160474 (3), 15590634 (3), 10024608 (2), 2231024 (2) (see all 23)
    pyridoxamine 5-phosphate 85.4 4 10024608 (2), 12542535 (1), 1839316 (1)
    roscovitine 65.3 8 15985434 (5), 15975926 (1), 19350611 (1)
    atp 42.6 9 15985434 (2), 2065671 (2), 15249053 (1), 15590634 (1) (see all 5)
    theophylline 42.3 6 8480077 (3), 2231024 (2), 8017343 (1)
    guanidine hydrochloride 33 1 10987144 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for PDXK
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PDXK
    Sigma-Aldrich shRNA Panels and shRNA for PDXK
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PDXK
    OriGene shRNA RFP (see all 2): PDXK
    OriGene basic RS shRNA (see all 2): PDXK
    OriGene siRNA: PDXK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PDXK 
    miRNA: Sigma-Aldrich microRNA Mimics for PDXK
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PDXK 
    2 SABiosciences Assays for microRNAs that regulate PDXK:
    hsa-miR-513a-5p hsa-miR-220c
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PDXK
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PDXK
    OriGene untagged cDNA clones in CMV expression vector: PDXK
    OriGene 3'-UTR Clone: PDXK 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PDXK 
    Primers: OriGene genome-wide validated SYBR primer pairs: PDXK
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PDXK: PPH15998A

    REFSEQ mRNAs for PDXK gene: 

    NM_003681.4  

    Additional cDNA sequence: 

    AK024977.1 AK027018.1 AK056502.1 AK094630.1 AK225206.1 AL109793.1 AL110184.1 AL122067.1 
    AL137632.1 AL161960.1 AL355712.1 AL355713.1 AY303972.1 BC000123.1 BC003651.2 BC005825.2 
    BC008008.1 BC021550.1 BC041020.1 BC063541.1 CR599985.1 CR601990.1 CR602839.1 CR607997.1 
    CR610657.1 CR613269.1 CR618585.1 CR621353.1 U89606.1 

    24/33 DOTS entries (see all 33):

    DT.441022  DT.309329  DT.443231  DT.101984930  DT.99955922  DT.95303992  DT.95210360  DT.95303984 
    DT.100807414  DT.121132860  DT.100807417  DT.121132863  DT.91798893  DT.100717157  DT.40107159  DT.75132534 
    DT.92013336  DT.121132897  DT.100030959  DT.100827615  DT.121132881  DT.95303996  DT.100752131  DT.100827613 

    24/614 AceView cDNA sequences (see all 614):

    CA428935 BX337757 BQ685704 BU190161 BU957530 AI927640 BC005825 CR613269 
    AA159078 CF130389 BM970560 BU543673 NM_003681 AL039168 CA444451 BU541247 
    BU856709 CD672682 CD368593 BM927860 BM982901 CR601990 CB156526 CA427467 

    highest scoring ESTs for PDXK:

    AA292265 AI696238 N76173 U89606 AA022707 AA033558 AA053369 AA070051 AA070824 AA132451 

    Unigene Cluster for PDXK:

    Pyridoxal (pyridoxine, vitamin B6) kinase
    Hs.284491  [show with all ESTs]
    Unigene Representative Sequence: NM_003681


    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for PDXK (see all 13)

    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:                                            -     -     -           -     -     -     -                 -     -                                             

    ExUns: 18a · 18b · 18c · 18d
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        

    About this scheme

    ECgene alternative splicing isoforms for PDXK
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000461123 ENST00000467908(uc002zdq.3) ENST00000463355 ENST00000343528
    ENST00000472777 ENST00000468392 ENST00000481512 ENST00000498040 ENST00000476084
    ENST00000476313 ENST00000327574(uc002zdo.2 uc002zdp.2) ENST00000398085
    ENST00000467640 ENST00000470029 ENST00000468090(uc002zdn.3) ENST00000400399
    ENST00000398078 ENST00000498150

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    PDXK expression in normal and diseased human tissues

    1  / 2  / 3

    16 probe-sets matching PDXK gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    68766_at2, 3 U95-E 1 1.00 1.00 -0.15 1.17 AI696238 1.00 0.90 0.95 1
    53608_at2, 3 U95-C 1 1.00 1.00 0.80 1.05 N76173 1.00 0.90 0.95 1
    53647_at2, 3 U95-B 1 1.00 1.00 0.90 0.79 AL037995 0.80 0.88 0.84 1
    35714_at2, 3 U95-A 1 1.00 1.00 0.71 0.76 U89606 1.00 0.80 0.91 1
    52908_at2, 3 U95-B 1 1.00 1.00 0.70 1.21 AA865619 0.60 1.00 0.82 1
    89499_at2, 3 U95-D 2 1.00 0.97 0.72 1.03 AI884739 0.40 0.50 0.45 1
    48487_at2, 3 U95-B 1 0.94 1.00 0.80 1.00 AA292265 1.00 0.90 0.95 1
    218018_at2, 3 U133-A 1 1.00 1.00 -- -- AW449022 0.80 0.88 0.84 1
    202671_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_003681 0.60 0.83 0.73 1
    218019_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021941 0.20 1.00 0.72 1
    222492_at2, 3 U133-B 1 0.91 1.00 -- -- AW262867 0.60 0.83 0.73 1
    218018_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    202671_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    1566671_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    218019_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    222492_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    PDXK for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    PDXK gene expression
    PDXK gene electronic northern expression
    PDXK gene sage expression
    About these images

    CGAP SAGE TAG: GCGAAAAAAA

    SOURCE GeneReport for Unigene cluster: Hs.284491

    Expression variation in blood from EXPOLDB for PDXK

    UniProtKB/Swiss-Prot: PDXK_HUMAN, O00764
    Tissue specificity: Ubiquitous. Isoform 3 is detected in adult testis and spermatozoa

    Primers: OriGene genome-wide validated SYBR primer pairs: PDXK
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PDXK: PPH15998A
        SABiosciences Custom PCR Arrays for PDXK 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for PDXK gene from 5/15 species (see all 15)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PDXK1   -- pyridoxal (pyridoxine, vitamin B6) kinase 85.09(n)
    86.27(a)
    487788  XM_544913.2  XP_544913.2 
    chimpanzee
    (Pan troglodytes)
    PDXK1   -- pyridoxal (pyridoxine, vitamin B6) kinase 98.82(n)
    98.4(a)
    737076  XM_001145080.1  XP_001145080.1 
    cow
    (Bos taurus)
    PDXK1   -- pyridoxal (pyridoxine, vitamin B6) kinase 86(n)
    86.86(a)
    514168  NM_001075651.1  NP_001069119.1 
    mouse
    (Mus musculus)
    Pdxk1 , 5 10 (39.72 cM)5
    pyridoxal (pyridoxine, vitamin B6) kinase1, 5 84.72(n)1
    86.22(a)1
    2161341  NM_172134.11  NP_742146.11 
     AA1196885  AI4508765  (see all 28)
    zebrafish
    (Danio rerio)
    CH211-141E20.11   -- novel protein similar to pyridoxal (pyridoxine, vitamin more 68.53(n)
    74.01(a)
    791775  XM_001330963.1  XP_001330999.1 
    About this table        Species with no ortholog for PDXK

    ENSEMBL Gene Tree for PDXK (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/555 NCBI SNPs in PDXK are shown (see all 555)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 21 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs12991,2
    C,F,45182064(-) CACAAA/GCAGGG 1 -- ut31 ese325Minor allele frequency- N:0.00MN NA EA NS 1912
    rs13001,2
    C,F,H,45182001(-) CCCTCG/AGCAGG 1 -- ut31 ese314Minor allele frequency- A:0.32MN NA NS EA WA 817
    rs75271,2
    C,F,A,45175958(+) CCGCTC/TGCCCG 1 -- ut31 ese331Minor allele frequency- T:0.41MN EA NA NS WA 3759
    rs83771,2
    C,F,H,45181311(+) CTGGCG/AGATAG 1 -- ut3124Minor allele frequency- A:0.17MN NA NS EA 2998
    rs7434631,2
    C,F,A,45142427(+) caggtG/Tgctca 1 -- int116Minor allele frequency- T:0.39NS EA NA WA 1056
    rs7434641,2
    C,45143064(-) agtgaG/Aaccct 1 -- int16Minor allele frequency- A:0.00NS EA NA WA 418
    rs7623981,2
    C,F,A,H,45170813(+) tgcgtA/Gtgtgt 1 -- int15Minor allele frequency- G:0.44NA EA 168
    rs7623991,2
    F45175599(+) ACCGTG/CTCTAC 2 /V syn1 ref1 ese35Minor allele frequency- C:0.28EA NA MN 248
    rs7624021,2
    C,F,A,H,45144492(+) ccgagG/Atgggg 1 -- int113Minor allele frequency- A:0.26EA NA MN WA 564
    rs7624031,2
    C,A,H,45144823(+) GTTTTA/TAAAAA 1 -- int18Minor allele frequency- T:0.10NA EA WA 342
    About this table

    HapMap Linkage Disequilibrium images for PDXK (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for PDXK
         5 CNVs: 67801 7326 30145 5162 7327

    QIAGEN SeqTarget long-range PCR primers for resequencing PDXK 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PDXK for disorders           About GeneDecksing

    OMIM: 179020

    1 Novoseek disease relationship for PDXK gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 26.9 3 1839316 (2), 15082224 (1)
    About this table

    Human Gene Mutation Database (HGMD): PDXK
    Human Genome Epidemiology (HuGE) Navigator: PDXK (3 documents)

    Export disorders and mutations for PDXK gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/71 PubMed articles for PDXK gene, integrated from 7 sources (see all 71):
    (articles sorted by number of sources associating them with PDXK)
    1. Human pyridoxal kinase. cDNA cloning, expression, and modulation by ligands of the benzodiazepine receptor. (PubMed id 9099727)1, 2, 3, 7 Hanna M.C.... Kirkness E.F. (1997)
    2. Human pyridoxal kinase: overexpression and properties of the recombinant enzyme. (PubMed id 10987144)1, 2, 7 Lee H.-S.... Kwon O.-S. (2000)
    3. Expression of a novel pyridoxal kinase mRNA splice variant, PKH-T, in human testis. (PubMed id 15154080)1, 2 Fang X....Sha J.H. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    6. Crystal structure of human pyridoxal kinase. (PubMed id 16600635)1, 7 Cao P....Jiang T. (2006)
    7. Pyridoxal kinase knockout of Dictyostelium complemented by the human homologue. (PubMed id 10930737)1, 7 Guo K. and Newell P.C. (2000)
    8. Crystal Structure of human pyridoxal kinase: structural basis of M(+) and M(2+) activation. (PubMed id 17766369)1, 7 Musayev F.N....Safo M.K. (2007)
    9. Kinetic and structural studies of the role of the active site residue Asp235 of human pyridoxal kinase. (PubMed id 19351586)1, 7 Gandhi A.K....Safo M.K. (2009)
    10. Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain. (PubMed id 15082224)1, 7 Shin J.H....Lubec G. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8566 HGNC: 8819 AceView: PDXK Ensembl:ENSG00000160209 euGenes: HUgn8566
    ECgene: PDXK Kegg: 8566 H-InvDB: PDXK

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for PDXK gene:
    Search GeneIP for patents involving PDXK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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     Regulatory tfbs in PDXK promoter
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    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

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