BC007086
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
17,958 Da
NCBI Official Full Name
Homo sapiens triosephosphate isomerase 1, mRNA
NCBI Official Synonym Full Names
triosephosphate isomerase 1
NCBI Protein Information
triosephosphate isomerase
UniProt Protein Name
Triosephosphate isomerase
UniProt Synonym Protein Names
Triose-phosphate isomerase
UniProt Synonym Gene Names
UniProt Entry Name
TPIS_HUMAN
NCBI Summary for TPI1
This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
UniProt Comments for TPI1
TPI1: Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency). TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. Belongs to the triosephosphate isomerase family. 2 isoforms of the human protein are produced by alternative promoter.
Protein type: Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - inositol phosphate; EC 5.3.1.1; Carbohydrate Metabolism - fructose and mannose; Isomerase
Chromosomal Location of Human Ortholog: 12p13
Cellular Component: cytosol; extracellular space; nucleus
Molecular Function: protein binding; triose-phosphate isomerase activity; ubiquitin protein ligase binding
Biological Process: gluconeogenesis; glyceraldehyde-3-phosphate biosynthetic process; glycerol catabolic process; glycolysis
Disease: Triosephosphate Isomerase Deficiency
Research Articles on TPI1
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Pathways associated with TPI1 cdna clone
Diseases associated with TPI1 cdna clone
Organs/Tissues associated with TPI1 cdna clone
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