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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TPK1 Gene

protein-coding   GIFtS: 67
GCID: GC07M144149

Thiamin Pyrophosphokinase 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Thiamin Pyrophosphokinase 11 2     PP202 3
Placental Protein 201 2 3     HTPK12
Thiamine Pyrophosphokinase 11 3     THMD52
Thiamine Diphosphokinase1 2     EC 2.7.6.23
Thiamine Kinase1 2     hTPK13

External Ids:    HGNC: 173581   Entrez Gene: 270102   Ensembl: ENSG000001965117   OMIM: 6063705   UniProtKB: Q9H3S43   

Export aliases for TPK1 gene to outside databases

Previous GC identifers: GC07M142395 GC07M143463 GC07M143540 GC07M143586 GC07M143779 GC07M138228


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

Entrez Gene summary for TPK1 Gene:
This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine
pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
(provided by RefSeq, Jul 2008)

GeneCards Summary for TPK1 Gene: 
TPK1 (thiamin pyrophosphokinase 1) is a protein-coding gene. Diseases associated with TPK1 include beriberi, and wernicke-korsakoff syndrome, and among its related super-pathways are Metabolic pathways and Thiamine metabolism. GO annotations related to this gene include thiamine diphosphokinase activity and kinase activity.

UniProtKB/Swiss-Prot: TPK1_HUMAN, Q9H3S4
Function: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the
phosphorylation of pyrithiamine to pyrithiamine pyrophosphate

Gene Wiki entry for TPK1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TPK1 gene promoter:
         RORalpha1   Sox5   p53   FOXJ2 (long isoform)   HFH-1   FOXD1   FOXJ2   E4BP4   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): TPK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TPK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPK1


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

Entrez Gene cytogenetic band: 7q34-q35   Ensembl cytogenetic band:  7q35   HGNC cytogenetic band: 7q34-q35

TPK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPK1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M144149:  view genomic region     (about GC identifiers)

Start:
144,149,034 bp from pter      End:
144,533,488 bp from pter
Size:
384,455 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 143,487,292-143,871,298     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TPK1_HUMAN, Q9H3S4 (See protein sequence)
Recommended Name: Thiamin pyrophosphokinase 1  
Size: 243 amino acids; 27265 Da
Subunit: Homodimer
Sequence caution: Sequence=BAB15465.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for TPK1:
1OLY (3D)        3S4Y (3D)    
Secondary accessions: A8K0T7 D3DWG0 Q6NUR5 Q9H602

Explore the universe of human proteins at neXtProt for TPK1: NX_Q9H3S4

Explore proteomics data for TPK1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H3S4

  • TPK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TPK1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035947.1  NP_071890.2  

    ENSEMBL proteins: 
     ENSP00000449909   ENSP00000353165   ENSP00000438813   ENSP00000367338   ENSP00000448655  
     ENSP00000450028   ENSP00000367339   ENSP00000448698  
    Reactome Protein details: Q9H3S4
    Human Recombinant Protein Products for TPK1: 
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    Cloud-Clone Corp. Proteins for TPK1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    TPK1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR007373 Thiamin_PyroPKinase_B1-bd
     IPR016966 Thiamin_pyrophosphokinase_euk
     IPR006282 Thi_PPkinase
     IPR007371 TPK_catalytic

    Graphical View of Domain Structure for InterPro Entry Q9H3S4

    ProtoNet protein and cluster: Q9H3S4

    1 Blocks protein domain: IPB007371 Thiamin pyrophosphokinase

    UniProtKB/Swiss-Prot: TPK1_HUMAN, Q9H3S4
    Similarity: Belongs to the thiamine pyrophosphokinase family


    TPK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPK1_HUMAN, Q9H3S4
    Function: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the
    phosphorylation of pyrithiamine to pyrithiamine pyrophosphate
    Catalytic activity: ATP + thiamine = AMP + thiamine diphosphate

         Enzyme Number (IUBMB): EC 2.7.6.21

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004788thiamine diphosphokinase activity TAS--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity IEA--
         
    TPK1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for TPK1:
     Decreased viability  Gemcitabine induced cell-death  Increased apoptosis  Increased cell death HMECs cel 
     Paclitaxel antagonistic effect 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TPK1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TPK1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Vitamin B1 (thiamin) metabolism
    Thiamine metabolism0.33
    Vitamin B1 (thiamin) metabolism0.33
    3Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    4thiamin salvage III
    thiamin salvage III

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TPK1
        thiamin salvage III


    4        Reactome Pathways for TPK1
        Vitamin B1 (thiamin) metabolism
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    2         Kegg Pathways  (Kegg details for TPK1):
        Thiamine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: TPK1_HUMAN, Q9H3S4
    Pathway: Cofactor biosynthesis; thiamine diphosphate biosynthesis; thiamine diphosphate from thiamine: step 1/1


    TPK1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TPK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/10 Interacting proteins for TPK1 (Q9H3S42, 3 ENSP000003531654) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8201932 I2D: score=1 STRING: ENSP00000250416
    MARCH6O603373I2D: score=3 
    NEDD4LQ96PU53I2D: score=3 
    PRPF40AO754003I2D: score=3 
    DAKQ3LXA33I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006772thiamine metabolic process IEA--
    GO:0009229thiamine diphosphate biosynthetic process IEA--
    GO:0042723thiamine-containing compound metabolic process TAS--

    TPK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TPK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TPK1

    3 HMDB Compounds for TPK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ThiamineAneurin (see all 44)59-43-8--
    Thiamine pyrophosphateTPP (see all 11)154-87-0--
    Thiamine triphosphateThiamin triphosphate (see all 4)3475-65-8--

    2 DrugBank Compounds for TPK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ThiamineThiadoxine (see all 5)59-43-8targetligand15514058 11642045 15150256 15664409
    Pyrithiamine Pyrophosphate-- --target--10592235

    9 Novoseek inferred chemical compound relationships for TPK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiamine 88.9 49 16365036 (6), 12953792 (4), 11419946 (2), 1667952 (2) (see all 19)
    thiamine monophosphate 88.2 1 8619543 (1)
    thiamine pyrophosphate 85.7 7 16365036 (2), 7787776 (1), 8619543 (1)
    thiamin diphosphate 85.6 2 12953792 (1), 11342117 (1)
    alpha-ketoglutarate 49.8 1 16087053 (1)
    pyrophosphate 49.4 2 11419946 (1), 16365036 (1)
    atp 32.3 4 16365036 (2), 11419946 (1), 12953792 (1)
    pyruvate 28.5 1 16087053 (1)
    magnesium 20.5 1 12953792 (1)

    Search CenterWatch for drugs/clinical trials and news about TPK1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TPK1 gene (2 alternative transcripts): 
    NM_001042482.1  NM_022445.3  

    Unigene Cluster for TPK1:

    Thiamin pyrophosphokinase 1
    Hs.660232  [show with all ESTs]
    Unigene Representative Sequence: NM_022445
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482940(uc003wep.3) ENST00000360057(uc003weq.3 uc003wer.3 uc003wes.3)
    ENST00000538212(uc003weo.3) ENST00000378098 ENST00000547966 ENST00000551062
    ENST00000548831 ENST00000552881 ENST00000481645 ENST00000489798 ENST00000546806
    ENST00000548460 ENST00000378099 ENST00000549981

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    hsa-miR-3673 hsa-miR-29a hsa-miR-29c hsa-miR-129-3p hsa-miR-129* hsa-miR-29b
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    Additional mRNA sequence: 

    AB028138.1 AF297710.1 AK128661.1 AK289652.1 AK308693.1 AY206415.1 BC068460.1 

    9 DOTS entries:

    DT.206071  DT.99927572  DT.101973047  DT.40126973  DT.70102290  DT.95150005  DT.100010217  DT.100747389 
    DT.95302470 

    24/62 AceView cDNA sequences (see all 62):

    AI680206 AI962500 AW196611 AF297710 AI699926 AI521189 AK091736 AI678484 
    AA628642 AY206415 AA953069 AI989889 CR749248 AB028138 AK026374 BX115893 
    NM_022445 AI655196 AW137553 BE504950 BC014552 AI383646 AW589663 BE503403 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TPK1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                -                                                               
    SP2:                    -     -     -           -     -                 -                 -         
    SP3:                                            -                       -     -           -         


    ECgene alternative splicing isoforms for TPK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TPK1 expression in normal human tissues (normalized intensities)      TPK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGTGTGC
    TPK1 Expression
    About this image


    TPK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine   
     
     Blood (Hematopoietic System)
             monocytes   
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells ( Generation of mesendoderm and definitive endoderm...
     
     Kidney (Urinary System)

    See TPK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TPK1

    SOURCE GeneReport for Unigene cluster: Hs.660232

    UniProtKB/Swiss-Prot: TPK1_HUMAN, Q9H3S4
    Tissue specificity: Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at
    very low levels in a variety of tissues

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TPK1 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpk11 , 5 thiamine pyrophosphokinase1, 5 86.42(n)1
    89.3(a)1
      6 (21.19 cM)5
    298071  NM_013861.31  NP_038889.11 
     433450015 
    chicken
    (Gallus gallus)
    Aves TPK11 thiamin pyrophosphokinase 1 71.62(n)
    74.67(a)
      420780  XM_418875.3  XP_418875.3 
    lizard
    (Anolis carolinensis)
    Reptilia TPK16
    thiamin pyrophosphokinase 1
    72(a)
    1 ↔ 1
    6(51428941-51780744)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.115362 Xenopus laevis transcribed sequence with weak similarity more 77.48(n)    BJ042513.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tpk11 thiamin pyrophosphokinase 1 62.17(n)
    63.71(a)
      450054  NM_001006074.1  NP_001006074.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG147211 , 3 thiamin pyrophosphokinase3
    CG147211
    35(a)3
    49.21(n)1
    40.77(a)1
      86F43
    414171  NM_141853.21  NP_650110.31 
    worm
    (Caenorhabditis elegans)
    Secernentea tpk-11 Protein TPK-1 46.2(n)
    34.88(a)
      176258  NM_001027853.1  NP_001023024.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes THI80(YOR143C)4
    THI801
    Thiamine pyrophosphokinase, phosphorylates thiamine more4
    Thi80p1
    46.3(n)1
    35.29(a)1
      15(602342-601383)4
    8543141, 4  NP_014786.11, 4 
    rice
    (Oryza sativa)
    Liliopsida Os.345882 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.38(n)    AK070843.1 


    ENSEMBL Gene Tree for TPK1 (if available)
    TreeFam Gene Tree for TPK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8071 SNPs in TPK1 are shown (see all 8071)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673924
    Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)4--see VAR_0673922 N H mis40--------
    VAR_0673914
    Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)4--see VAR_0673912 L P mis40--------
    VAR_0673934
    Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)4--see VAR_0673932 N S mis40--------
    rs773751731,2
    C--138575499(-) TCATGA/GTTGGT 2 -- int12Minor allele frequency- G:0.25NA 4
    rs636837601,2
    C--143490900(+) GGTTT-/GATTTG 2 -- int10--------
    rs355231611,2
    C--143507051(+) GAATT-/GATTTA 2 -- int10--------
    rs731591011,2
    C,F--143527355(+) CAAAAC/AAAAAC 2 -- int12Minor allele frequency- A:0.50WA CSA 4
    rs715239311,2
    C--143547062(+) GTGTGTGTGTG/-
            
    TGTGT
    2 -- int11Minor allele frequency- -:0.50NA 2
    rs361995641,2
    C,F--143573212(+) ACTCAT/CAGGTG 2 -- int13Minor allele frequency- C:0.40NA CSA 5
    rs674880871,2
    C--143611354(+) TCAAA-/CTTTTA 2 -- int10--------

    HapMap Linkage Disequilibrium report for TPK1 (144149034 - 144399034 bp, first 250kb of TPK1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for TPK1 (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735286CNV Deletion23290073
    esv2735285CNV Deletion23290073
    esv3000CNV Deletion18987735
    esv2495468CNV Deletion19546169
    esv2000498CNV Deletion18987734
    esv1057651CNV Deletion17803354
    esv2490376CNV Deletion19546169
    esv2735288CNV Deletion23290073
    esv2735287CNV Deletion23290073
    esv2397451CNV Deletion18987734


    Human Gene Mutation Database (HGMD): TPK1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TPK1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606370    OMIM disorders: --

    UniProtKB/Swiss-Prot: TPK1_HUMAN, Q9H3S4
  • Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]: An
    autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly
    variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes
    associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction
    manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of
    ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported.
    These episodes are usually associated with infection and metabolic decompensation. Some patients may have
    recovery of some neurologic deficits. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 13 diseases for TPK1:    About MalaCards
    beriberi    wernicke-korsakoff syndrome    megaloblastic anemia    lactic acidosis
    acquired immunodeficiency syndrome    metabolic disorders    anemia    spasticity
    malaria    diabetes mellitus    ataxia    neuroblastoma
    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for TPK1:
    Beriberi     Wernicke-Korsakoff syndrome

    TPK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for TPK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia megaloblastic 76.2 1 8394635 (1)
    deafness sensorineural 70.6 1 8394635 (1)
    diabetes mellitus 30.6 1 8394635 (1)

    Genetic Association Database (GAD): TPK1
    Human Genome Epidemiology (HuGE) Navigator: TPK1 (3 documents)

    Export disorders for TPK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TPK1 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with TPK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK). (PubMed id 15664409)1, 2, 7, 9 Bellyei S.... Than N.G. (2005)
    2. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. (PubMed id 11342111)1, 2, 3 Nosaka K....Abe T. (2001)
    3. Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight. (PubMed id 17295612)1, 4, 9 Fradin D. and Bougneres P. (2007)
    4. Molecular cloning of human thiamin pyrophosphokinase. (PubMed id 11342117)1, 2, 9 Zhao R.... Goldman I.D. (2001)
    5. Thiamine pyrophosphokinase deficiency in encephalopat hic children with defects in the pyruvate oxidation pathway. (PubMed id 22152682)1, 2 Mayr J.A....Sperl W. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase. (PubMed id 12953792)1, 9 Onozuka M. and Nosaka K. (2003)
    10. Molecular cloning and analysis of the 5'-flanking region of the human thiamin pyrophosphokinase gene. (PubMed id 16262001)1, 9 Onozuka M....Nosaka K. (2005)

    (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: 27010 HGNC: 17358 AceView: TPK1 Ensembl:ENSG00000196511 euGenes: HUgn27010
    ECgene: TPK1 Kegg: 27010 H-InvDB: TPK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TPK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TPK1 gene:
    Search GeneIP for patents involving TPK1

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



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