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Gene : TPK1 Homo sapiens

Name  ? thiamin pyrophosphokinase 1 Cytological Location  7q35
Brief Description  thiamin pyrophosphokinase 1
Description  The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]
  • synonyms:
  • uc003weq.3,
  • THMD5,
  • HGNC:17358,
  • PP20,
  • PP20,
  • OTTHUMG00000152774,
  • NM_022445,
  • placental protein 20,
  • TPK1,
  • HTPK1,
  • thiamine diphosphokinase,
  • HTPK1,
  • thiamine pyrophosphokinase 1,
  • thiamine kinase,
  • AB028138
  • identifiers:
  • 27010,
  • ENSG00000196511,
  • TPK1

Genome feature

Region: gene ? Length: 384484  
Location: 7:144451941-144836424 reverse strand Cyto location: 7q35

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3756 SN Ps

4 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results