Gene Gene information from NCBI Gene database.
Entrez ID 7167
Gene name Triosephosphate isomerase 1
Gene symbol TPI1
Synonyms (NCBI Gene)
HEL-S-49TIMTPITPID
Chromosome 12
Chromosome location 12p13.31
Summary 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
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs121964845 G>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121964846 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121964847 T>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121964848 G>A Pathogenic Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs121964849 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
546
miRTarBase ID miRNA Experiments Reference
MIRT000808 hsa-miR-15a-5p proteomics analysis 18362358
MIRT000807 hsa-miR-16-5p proteomics analysis 18362358
MIRT049943 hsa-miR-30a-5p CLASH 23622248
MIRT047515 hsa-miR-10a-5p CLASH 23622248
MIRT045713 hsa-miR-125a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0004807 Function Triose-phosphate isomerase activity IBA
GO:0004807 Function Triose-phosphate isomerase activity IDA 18562316
GO:0004807 Function Triose-phosphate isomerase activity IEA
GO:0004807 Function Triose-phosphate isomerase activity NAS 2876430
GO:0004807 Function Triose-phosphate isomerase activity TAS 2579079
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190450 12009 ENSG00000111669
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60174
Protein name Triosephosphate isomerase (TIM) (EC 5.3.1.1) (Methylglyoxal synthase) (EC 4.2.3.3) (Triose-phosphate isomerase)
Protein function Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis. {ECO:0000269|PubMed:18562
PDB 1HTI , 1KLG , 1KLU , 1WYI , 2IAM , 2IAN , 2JK2 , 2VOM , 4BR1 , 4E41 , 4POC , 4POD , 4UNK , 4UNL , 4ZVJ , 6C2G , 6D43 , 6NLH , 6UP1 , 6UP5 , 6UP8 , 6UPF , 7RDE , 7SX1 , 7T0Q , 7UXB , 7UXV , 9F69 , 9FFC
Family and domains

Pfam


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Accession ID Position in sequence Description Type
PF00121 TIM 44 282 Triosephosphate isomerase Domain
Sequence
Sequence length 249
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Fructose and mannose metabolism
Inositol phosphate metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
  Glycolysis
Gluconeogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Triosephosphate isomerase deficiency Pathogenic; Likely pathogenic rs587777440, rs587777441, rs2138094606, rs121964845, rs121964848, rs121964849, rs121964850 RCV000123389
RCV000123390
RCV002272749
RCV000013284
RCV000013289
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARBOHYDRATE METABOLISM, INBORN ERRORS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal involuntary movement Abnormal Involuntary Movement BEFREE 14743370
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10556207
★☆☆☆☆
Found in Text Mining only
Acute schizophrenia Schizophrenia PSYGENET_DG 22623148
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19955839
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12114434
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18752637, 36809524 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only