triosephosphate isomerase 1

Summary
Gene Symbol
  • TPI1
Organism
Homo sapiens (human)
External Links
NCBI Gene
7167
HGNC
12009
KEGG Gene ID
hsa:7167
PubChem
7167
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative promoter usage
  • Alternative splicing
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Gluconeogenesis
  • Glycolysis
  • Hereditary hemolytic anemia
  • Isomerase
  • Isopeptide bond
  • Lyase
  • Methylation
  • Nitration
  • Phosphoprotein
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying all 3 entries
UniProt Protein Name
Q53HE2
V9HWK1
P60174
  • Methylglyoxal synthase
  • Triose-phosphate isomerase
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K01803
Name
triosephosphate isomerase (TIM) [EC:5.3.1.1]
References
Disease
Disease Ontology
Displaying entries 131 - 140 of 167 in total
DO ID Disease Name Source
DOID:5675 cribriform carcinoma
DOID:574 peripheral nervous system disease
DOID:583 hemolytic anemia
DOID:589 congenital hemolytic anemia
DOID:6000 congestive heart failure
DOID:6039 uveal melanoma
DOID:640 encephalomyelitis
DOID:655 inherited metabolic disorder
DOID:657 adenoma
DOID:6688 autoimmune lymphoproliferative syndrome
The Human Phenotype Ontology
Displaying entries 11 - 20 of 42 in total
HPO ID HPO Term
HP:0001290 Generalized hypotonia
HP:0001324 Muscle weakness
HP:0001332 Dystonia
HP:0001337 Tremor
HP:0001508 Failure to thrive
HP:0001522 Death in infancy
HP:0001562 Oligohydramnios
HP:0001635 Congestive heart failure
HP:0001639 Hypertrophic cardiomyopathy
HP:0001744 Splenomegaly
Displaying all 2 entries
Disease ID Disease Name
ORPHA:868
  • triosephosphate isomerase deficiency
OMIM:615512
  • triosephosphate isomerase deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024