Details for: TPK1

Gene ID: 27010

Symbol: TPK1

Ensembl ID: ENSG00000196511

Description: thiamin pyrophosphokinase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 180.0762
    Cell Significance Index: -28.0100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 107.5920
    Cell Significance Index: -27.2900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 56.1221
    Cell Significance Index: -22.8000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 52.1205
    Cell Significance Index: -26.8100
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: 48.2989
    Cell Significance Index: 776.6200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 22.7989
    Cell Significance Index: -28.1100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.2218
    Cell Significance Index: -24.5600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.1648
    Cell Significance Index: -27.2300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.1390
    Cell Significance Index: -28.0700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.1413
    Cell Significance Index: -28.1800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7827
    Cell Significance Index: 357.6000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0272
    Cell Significance Index: 195.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9213
    Cell Significance Index: 330.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7935
    Cell Significance Index: 60.9000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7932
    Cell Significance Index: 21.1800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.7460
    Cell Significance Index: 14.5600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4951
    Cell Significance Index: 342.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4691
    Cell Significance Index: 31.5400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4653
    Cell Significance Index: 11.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.4374
    Cell Significance Index: 823.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4199
    Cell Significance Index: 15.9000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.4109
    Cell Significance Index: 8.7800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.4026
    Cell Significance Index: 5.7900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3780
    Cell Significance Index: 16.7200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3740
    Cell Significance Index: 22.4500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3473
    Cell Significance Index: 313.6100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3150
    Cell Significance Index: 19.3600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2690
    Cell Significance Index: 7.7500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2588
    Cell Significance Index: 25.6000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2423
    Cell Significance Index: 26.3600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2334
    Cell Significance Index: 4.0000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2156
    Cell Significance Index: 4.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1836
    Cell Significance Index: 29.8600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1791
    Cell Significance Index: 3.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1556
    Cell Significance Index: 28.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1543
    Cell Significance Index: 209.8300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1350
    Cell Significance Index: 15.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1310
    Cell Significance Index: 7.3500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1230
    Cell Significance Index: 6.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1045
    Cell Significance Index: 66.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1006
    Cell Significance Index: 4.5600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0899
    Cell Significance Index: 6.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0895
    Cell Significance Index: 137.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0786
    Cell Significance Index: 9.6700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0728
    Cell Significance Index: 14.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0673
    Cell Significance Index: 30.5300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0652
    Cell Significance Index: 35.6200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0619
    Cell Significance Index: 114.0700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0413
    Cell Significance Index: 1.1800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0409
    Cell Significance Index: 0.9800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0110
    Cell Significance Index: 0.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0091
    Cell Significance Index: 0.3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0109
    Cell Significance Index: -0.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0299
    Cell Significance Index: -22.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0322
    Cell Significance Index: -23.6000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0343
    Cell Significance Index: -25.9400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0433
    Cell Significance Index: -24.4200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0461
    Cell Significance Index: -20.3600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0477
    Cell Significance Index: -29.7600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0517
    Cell Significance Index: -7.5200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0681
    Cell Significance Index: -11.6200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0774
    Cell Significance Index: -7.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0834
    Cell Significance Index: -24.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0863
    Cell Significance Index: -8.9900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0975
    Cell Significance Index: -1.4000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1049
    Cell Significance Index: -12.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1215
    Cell Significance Index: -16.6800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1253
    Cell Significance Index: -2.6600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1333
    Cell Significance Index: -28.0800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1697
    Cell Significance Index: -21.9300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1714
    Cell Significance Index: -2.4600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1875
    Cell Significance Index: -4.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2107
    Cell Significance Index: -12.9200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2122
    Cell Significance Index: -24.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2236
    Cell Significance Index: -28.6600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2285
    Cell Significance Index: -10.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2423
    Cell Significance Index: -15.2700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3150
    Cell Significance Index: -20.3200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3208
    Cell Significance Index: -25.4100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3354
    Cell Significance Index: -10.9800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3360
    Cell Significance Index: -4.1900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3421
    Cell Significance Index: -5.0500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3430
    Cell Significance Index: -25.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3512
    Cell Significance Index: -18.3000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3635
    Cell Significance Index: -4.9600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3716
    Cell Significance Index: -7.4600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.3753
    Cell Significance Index: -5.7000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3774
    Cell Significance Index: -3.4800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3813
    Cell Significance Index: -7.5400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3850
    Cell Significance Index: -8.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3852
    Cell Significance Index: -27.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3859
    Cell Significance Index: -12.2900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3973
    Cell Significance Index: -12.7300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3975
    Cell Significance Index: -20.8700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4205
    Cell Significance Index: -10.2600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4220
    Cell Significance Index: -6.3600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4247
    Cell Significance Index: -9.1800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4733
    Cell Significance Index: -12.6600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4809
    Cell Significance Index: -6.0700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4901
    Cell Significance Index: -17.1700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TPK1 is a member of the pyrophosphokinase family, characterized by its ability to phosphorylate thiamine pyrophosphate (TPP) into thiamine pyrophosphate kinase. The enzyme exhibits a high degree of specificity, binding thiamine pyrophosphate with high affinity and specificity. TPK1 is primarily expressed in cells that require thiamine for energy production, neurotransmitter synthesis, and other cellular processes, including the central nervous system, syncytiotrophoblast cells, and immune cells. **Pathways and Functions:** TPK1 plays a central role in the thiamine metabolic pathway, where it catalyzes the conversion of TPP into thiamine pyrophosphate kinase. This reaction is essential for the utilization of thiamine for energy production in the mitochondria and for the synthesis of neurotransmitters, such as GABA and glutamate. TPK1 also participates in other metabolic pathways, including the metabolism of water-soluble vitamins and cofactors, ATP binding, and protein binding. The enzyme's activity is regulated by various post-translational modifications, including phosphorylation and ubiquitination. **Clinical Significance:** TPK1 is involved in various diseases, including: 1. **Neurodegenerative disorders:** TPK1 has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS), where thiamine metabolism is disrupted. 2. **Neurodevelopmental disorders:** TPK1 mutations have been associated with neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. 3. **Cancer:** TPK1 has been identified as a potential biomarker for cancer, particularly in the context of thiamine metabolism and energy production. 4. **Cardiovascular disease:** TPK1 has been linked to cardiovascular disease, where thiamine metabolism is disrupted, leading to impaired energy production and cellular damage. In conclusion, TPK1 is a crucial enzyme in thiamine metabolism, playing a central role in the utilization of thiamine for energy production, neurotransmitter synthesis, and other cellular processes. Its dysregulation has been implicated in various diseases, highlighting the importance of TPK1 in maintaining cellular homeostasis and overall health. Further research is needed to fully elucidate the mechanisms of TPK1 and its clinical significance in disease.

Genular Protein ID: 1143279282

Symbol: TPK1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9H3S4 A8K0T7 D3DWG0 I6L9B8 Q6NUR5 Q9H602

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EMBL 15 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 12 Rhea 2 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11342111

Title: Isolation and characterization of a human thiamine pyrophosphokinase cDNA.

PubMed ID: 11342111

DOI: 10.1016/s0167-4781(00)00247-5

PubMed ID: 11342117

Title: Molecular cloning of human thiamin pyrophosphokinase.

PubMed ID: 11342117

DOI: 10.1016/s0167-4781(00)00264-5

PubMed ID: 15664409

Title: Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK).

PubMed ID: 15664409

DOI: 10.1016/j.placenta.2004.03.008

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 38547260

Title: Pyrimidines maintain mitochondrial pyruvate oxidation to support de novo lipogenesis.

PubMed ID: 38547260

DOI: 10.1126/science.adh2771

PubMed ID: 22152682

Title: Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

PubMed ID: 22152682

DOI: 10.1016/j.ajhg.2011.11.007

Sequence Information:

  • Length: 243
  • Mass: 27265
  • Checksum: F7E96F8127CB4FA5
  • Sequence:
    • MEHAFTPLEP LLSTGNLKYC LVILNQPLDN YFRHLWNKAL LRACADGGAN RLYDITEGER 
ESFLPEFING DFDSIRPEVR EYYATKGCEL ISTPDQDHTD FTKCLKMLQK KIEEKDLKVD 
VIVTLGGLAG RFDQIMASVN TLFQATHITP FPIIIIQEES LIYLLQPGKH RLHVDTGMEG 
DWCGLIPVGQ PCMQVTTTGL KWNLTNDVLA FGTLVSTSNT YDGSGVVTVE TDHPLLWTMA 
IKS

Genular Protein ID: 939862024

Symbol: F5GZG6_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5GZG6

Database IDs:

ARBA 6 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 2 SMART 2 SMR 1 SUPFAM 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 194
  • Mass: 21886
  • Checksum: C673F868C40E8948
  • Sequence:
    • MEHAFTPLEP LLSTGNLKYC LVILNQPLDN YFRHLWNKAL LRACADGGAN RLYDITEGER 
ESFLPEFING DFDSIRPEVR EYYATKGCEL ISTPDQDHTD FTKCLKMLQK KIEEKDLKGK 
HRLHVDTGME GDWCGLIPVG QPCMQVTTTG LKWNLTNDVL AFGTLVSTSN TYDGSGVVTV 
ETDHPLLWTM AIKS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.