Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7167
Gene name Gene Name - the full gene name approved by the HGNC.
Triosephosphate isomerase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPI1
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-49, TIM, TPI, TPID
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TPID
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004807 Function Triose-phosphate isomerase activity IBA 21873635
GO:0004807 Function Triose-phosphate isomerase activity IDA 18562316
GO:0004807 Function Triose-phosphate isomerase activity NAS 2876430
GO:0004807 Function Triose-phosphate isomerase activity TAS 2579079
GO:0005515 Function Protein binding IPI 20849852, 21044950, 23355646, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190450 12009 ENSG00000111669
Protein
UniProt ID 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


Warning: Undefined array key 281 in /var/www/html/new_GgeneT.php on line 1322
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
19374891
Anemia Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Hemolytic, Congenital Nonspherocytic, Anemia, Microangiopathic, Normocytic anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
2876430, 8503454
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 15274141
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Inhibit 22226179
Adenocarcinoma of Lung Stimulate 35126788
Adenocarcinoma of Lung Associate 35246510, 37335089, 38130074
Alzheimer Disease Associate 18752637, 36809524
Anemia Hemolytic Associate 2876430
Anemia Hemolytic Congenital Inhibit 10556207
Anemia Hemolytic Congenital Nonspherocytic Associate 8503454
Aortic Aneurysm Abdominal Associate 22226179
Breast Neoplasms Associate 16048908, 22664934
Carcinoma Hepatocellular Associate 38134103