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TPK1 Gene

protein-coding   GIFtS: 65
GCID: GC07M144149

Thiamin Pyrophosphokinase 1

  See TPK1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Thiamin Pyrophosphokinase 11 2     PP202 3
Placental Protein 201 2 3     THMD52 5
Thiamine Pyrophosphokinase 11 3     HTPK12
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 thiamine metabolism dysfunction syndrome 5, and beriberi. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for TPK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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


See TPK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

TPK1 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for TPK1

 
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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with TPK1           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004788thiamine diphosphokinase activity TAS--
GO:0005524ATP binding IEA--
GO:0016301kinase activity IEA--
     
Find genes that share ontologies with TPK1           About GenesLikeMe


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: Let us create your new Knockout/Knockin mouse model for TPK1
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6 qRT-PCR Assays for microRNAs that regulate TPK1:
hsa-miR-3673 hsa-miR-29a hsa-miR-29c hsa-miR-129-3p hsa-miR-129* hsa-miR-29b
SwitchGear 3'UTR luciferase reporter plasmidTPK1 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat TPK1

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Sino Biological Human cDNA Clone for TPK1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPK1
Addgene plasmids for TPK1 

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol4

Gene Ontology (GO): 2 cellular component terms:    About this table

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

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for TPK1 About    
See pathways by source

SuperPathSelected contained pathways About (see all per SuperPath)
1Defective BTD causes biotidinase deficiency
Defective BTD causes biotidinase deficiency1.00
Metabolism of vitamins and cofactors1.00
Defective AMN causes hereditary megaloblastic anemia 11.00
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
Defective MMAA causes methylmalonic aciduria type cblA1.00
Defective MUT causes methylmalonic aciduria mut type1.00
Defective CD320 causes methylmalonic aciduria1.00
Defects in cobalamin (B12) metabolism1.00
2Metabolism
Metabolism0.38
Metabolic pathways0.38
3Thiamine metabolism
Thiamine metabolism
4Disease
Disease


Find genes that share SuperPaths with TPK1           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for TPK1
    thiamin salvage III


1 Reactome Pathway for TPK1
    Vitamin B1 (thiamin) metabolism


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

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TPK1
Interactions:

    Search GeneGlobe Interaction Network for TPK1

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

Selected 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 
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Gene Ontology (GO): Selected biological process terms (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--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



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(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
miRNA
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6 qRT-PCR Assays for microRNAs that regulate TPK1:
hsa-miR-3673 hsa-miR-29a hsa-miR-29c hsa-miR-129-3p hsa-miR-129* hsa-miR-29b
SwitchGear 3'UTR luciferase reporter plasmidTPK1 3' UTR sequence
Inhib. RNA
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Addgene plasmids for TPK1 
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  QuantiFast Probe-based Assays in human, mouse, rat TPK1

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 

Selected AceView cDNA sequences (see all 62):

AW196611 AI655196 AW137553 NM_022445 BE502640 BE503403 AI989889 AI680206 
AK026374 AI699926 BC014552 AB028138 AI383646 BE504950 AY206415 AF297710 
AI962500 AA953069 AI678484 BX115893 CR749248 AW589663 AA628642 AK091736 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TPK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTCTGTGTGC
TPK1 Expression
About this image

TPK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TPK1 Protein Expression

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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QuantiFast Probe-based Assays in human, mouse, rat TPK1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPK1

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for TPK1 gene from Selected species (see all 17)    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 72.43(n)
74.35(a)
  420780  XM_004935051.1  XP_004935108.1 
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
48.86(n)1
40.6(a)1
  86F43
414171  NM_001275554.11  NP_001262483.11 
worm
(Caenorhabditis elegans)
Secernentea tpk-11 tpk-1 46.2(n)
34.88(a)
  176258  NM_001027853.1  NP_001023024.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THI80(YOR143C)4 Thiamine pyrophosphokinase, phosphorylates thiamine more   --   15(602342-601383) 854314  NP_014786.1 
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)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TPK1 (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) Selected 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
Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606370   
OMIM disorders: 614458  
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

  • 3 diseases for TPK1:    
    About MalaCards
    thiamine metabolism dysfunction syndrome 5    beriberi    wernicke-korsakoff syndrome

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

    Find genes that share disorders with TPK1           About GenesLikeMe

    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)
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    PubMed articles for TPK1 gene, integrated from 10 sources (see all 45):
    (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. (Placenta 2005)
    2. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. (PubMed id 11342111)1, 2, 3 Nosaka K....Abe T. (Biochim. Biophys. Acta 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. (Ann. Hum. Genet. 2007)
    4. Molecular cloning of human thiamin pyrophosphokinase. (PubMed id 11342117)1, 2, 9 Zhao R.... Goldman I.D. (Biochim. Biophys. Acta 2001)
    5. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. (PubMed id 22152682)1, 2 Mayr J.A.... Sperl W. (Am. J. Hum. Genet. 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. (Mol. Med. 2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
    9. Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase. (PubMed id 12953792)1, 9 Onozuka M. and Nosaka K. (J. Nutr. Sci. Vitaminol. 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. (J. Nutr. Sci. Vitaminol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 27010 HGNC: 17358 AceView: TPK1 Ensembl:ENSG00000196511 euGenes: HUgn27010
    ECgene: TPK1 Kegg: 27010 H-InvDB: TPK1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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