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

TPK1 Gene

protein-coding   GIFtS: 62
GCID: GC07M144149

thiamin pyrophosphokinase 1
 Explore 11 diseases affiliated with
TPK1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TPK1    

Aliases
for TPK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Thiamin Pyrophosphokinase 11 2     Thiamine Diphosphokinase2
PP201 2 3     Thiamine Kinase2
HTPK11 2     EC 2.7.6.23
Placental Protein 202 3     HTPK11 2
THMD52     Thiamine Pyrophosphokinase 13

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


Summaries
for TPK1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007914.15  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     

Proteins
for TPK1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H3S4

    • TPK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
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    ProSpec Recombinant Protein for TPK1
    Uscn 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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    Uscn ELISAs and CLIAs for TPK1

    Protein Domains /
    Families
    for TPK1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TPK1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB007371 Thiamin pyrophosphokinase

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


    Function
    for TPK1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: ATP + thiamine = AMP + thiamine diphosphate

    Enzyme Number (IUBMB): EC 2.7.6.21

    miRNA
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    hsa-miR-3673 hsa-miR-29a hsa-miR-29c hsa-miR-129-3p hsa-miR-129* hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmid: TPK1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


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


    Pathways & Interactions
    for TPK1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin B1 (thiamin) metabolism
    		Vitamin B1 (thiamin) metabolism1.00
    		Thiamine metabolism0.33
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Vitamin B5 (pantothenate) metabolism
    		Metabolism of vitamins and cofactors0.21
    		Metabolism of water-soluble vitamins and cofactors0.21
    4thiamin salvage III
    		thiamin salvage III1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for TPK1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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)59-43-8targetinducer11104108 15514058 11642045 15150256 15664409
    Pyrithiamine Pyrophosphate-- --target--10592235

    9 Novoseek 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 

    Transcripts
    for TPK1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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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    Inhib. RNA
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    Additional cDNA 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):

    CR749248 NM_022445 BX115893 AW196611 AF297710 AI383646 AI655196 AA628642 
    AI521189 AI699926 AI989889 AK091736 BC014552 AW589663 AB028138 BE502640 
    AK026374 BE503403 AI962500 AY206415 AA953069 AW137553 AI680206 BE504950 

    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

    Expression
    for TPK1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTGTGTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TPK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for TPK1 gene

    (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 10/29 species (see all 29)    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
    		 --
    		 73(a)
    		 1 ↔ 1
    		 6(51428959-51707078)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons TPK26
    TPK16
    		 thiamin pyrophosphokinase1
    		 35(a)
    35(a)
    		 many → 1
    many → 1
    		 2(18451426-18452875)
    1(642752-644903)
    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
    for TPK1 gene

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

    Genomic Variants
    for TPK1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/6812 NCBI SNPs in TPK1 are shown (see all 6812)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1118537901,2
    		C,F--138263997(+) CACGTG/AGAGGC 2 -- int13Minor allele frequency- A:0.50NA WA 6
    rs133116231,2
    		--138423121(+) CCAACC/TAGAAA 2 -- int10--------
    rs133116281,2
    		--138423138(+) CAAATG/TCTACT 2 -- int10--------
    rs133102931,2
    		C,H,--138423149(+) GTGTCA/GGGGTT 2 -- int16Minor allele frequency- G:0.00NS EA NA 424
    rs133116361,2
    		H,--138423193(+) CTTAAT/CGATTT 2 -- int14Minor allele frequency- C:0.00NS EA 418
    rs133097881,2
    		--138423203(+) TCCTCA/GTATCT 2 -- int10--------
    rs133116831,2
    		--138423250(+) GTTAAC/TACCAA 2 -- int10--------
    rs133098461,2
    		--138423319(+) ATTCTG/TGGAGA 2 -- int10--------
    rs133103901,2
    		--138423327(+) AGATAA/CCAGCT 2 -- int10--------
    rs133117471,2
    		--138423370(+) GACAGC/TACAGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for TPK1 (144149034 - 144399034 bp, first 250kb of TPK1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for TPK1
         5 CNVs: 100160 100159 4573 3708 32963
         7 Indels: 41489 100158 10792 41036 10791 28477 47256
    Human Gene Mutation Database (HGMD): TPK1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TPK1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPK1

    Disorders / Diseases
    for TPK1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TPK1 for disorders           About GeneDecksing

    OMIM gene information: 606370    OMIM disorders: --

    UniProtKB/Swiss-Prot: TPK1_HUMAN, Q9H3S4
  • Defects in TPK1 are the cause of thiamine metabolism dysfunction syndrome type 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

    11 diseases for TPK1:    About MalaCards
    wernicke-korsakoff syndrome    acquired immunodeficiency syndrome    lactic acidosis    beriberi
    megaloblastic anemia    diabetes mellitus    anemia    immunodeficiency
    alzheimer's disease    neuroblastoma    malaria

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TPK1 (3 documents)

    Export disorders for TPK1 gene to outside databases

    Publications
    for TPK1 gene

    (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 39):
    (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. Molecular cloning of human thiamin pyrophosphokinase. (PubMed id 11342117)1, 2, 9 Zhao R.... Goldman I.D. (2001)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase. (PubMed id 12953792)1, 9 Onozuka M. and Nosaka K. (2003)
    8. Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight. (PubMed id 17295612)1, 9 Fradin D. and Bougneres P. (2007)
    9. 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)
    10. Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies. (PubMed id 16087053)1, 9 Toyoshima M....Yamada K. (2005)

    External Searches for TPK1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing TPK1 gene

    (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

    Other Databases showing TPK1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TPK1 gene

    (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

    Intellectual Property
    for TPK1 gene

    (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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