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TPI1 (triosephosphate isomerase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7167
Gene nameGene Name - the full gene name approved by the HGNC.
Triosephosphate isomerase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TPI1
SynonymsGene synonyms aliases
HEL-S-49, TIM, TPI, TPID
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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

Accession ID Position in sequence Description Type
PF00121 TIM
44 282
Triosephosphate isomerase
Domain
Sequence
Sequence length 249
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Glycolysis / Gluconeogenesis
Fructose and mannose metabolism
Inositol phosphate metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
  Glycolysis
Gluconeogenesis
Associated diseases
Causal
Disease name Disease term 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, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 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, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 2876430, 8503454
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 15274141
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Unknown
Disease name Disease term dbSNP ID References
Benign fasciculation-cramp syndrome Foley-Denny-Brown Syndrome 8503454
Cholecystitis Cholecystitis
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Enzymopathy Enzymopathy 11698297, 7485100

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