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 1 - 10 of 167 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050486 exanthem
DOID:0050635 alternating hemiplegia of childhood
DOID:0050700 cardiomyopathy
DOID:0050757 deafness-dystonia-optic neuronopathy syndrome
DOID:0050865 tongue squamous cell carcinoma
DOID:0050884 triosephosphate isomerase deficiency
DOID:0060041 autism spectrum disorder
DOID:0080199 colorectal carcinoma
DOID:0080326 familial hypertrophic cardiomyopathy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000543 Optic disc pallor
HP:0000762 Decreased nerve conduction velocity
HP:0000952 Jaundice
HP:0001081 Cholelithiasis
HP:0001082 Cholecystitis
HP:0001252 Hypotonia
HP:0001257 Spasticity
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
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