• Gene id: 7167

Gene Summary

• Gene Symbol: TPI1   Gene   UCSC   Ensembl
• Aliases: HEL-S-49, TIM, TPI, TPID
• Gene name: triosephosphate isomerase 1
• Alternate names: triosephosphate isomerase, epididymis secretory protein Li 49, methylglyoxal synthase, triose-phosphate isomerase,
• Gene location: 12p13.31 (6866833: 6870947)     Exons: 7     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 190450

Protein Summary

• Protein general information: P60174  
  • Name: Triosephosphate isomerase (TIM) (EC 5.3.1.1) (Methylglyoxal synthase) (EC 4.2.3.3) (Triose phosphate isomerase)
  • Length: 286  
  • Mass: 30791
• Sequence:

  MAEDGEEAEFHFAALYISGQWPRLRADTDLQRLGSSAMAPSRKFFVGGNWKMNGRKQSLGELIGTLNAAKVPADT
  EVVCAPPTAYIDFARQKLDPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWVVLGHSERRHVFGESDELIGQK
  VAHALAEGLGVIACIGEKLDEREAGITEKVVFEQTKVIADNVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEK
  LRGWLKSNVSDAVAQSTRIIYGGSVTGATCKELASQPDVDGFLVGGASLKPEFVDIINAKQ

• Structural information:
  • Interpro: IPR013785  IPR035990  IPR022896  IPR000652  IPR020861  
  • Prosite: PS00171 PS51440
  • CDD: cd00311
  • PDB: 1HTI 1KLG 1KLU 1WYI 2IAM 2IAN 2JK2 2VOM 4BR1 4E41 4POC 4POD 4UNK 4UNL 4ZVJ 6C2G 6D43 6NLH
  • PDBsum: 1HTI 1KLG 1KLU 1WYI 2IAM 2IAN 2JK2 2VOM 4BR1 4E41 4POC 4POD 4UNK 4UNL 4ZVJ 6C2G 6D43 6NLH
  • STRING: ENSP00000229270
• Other Databases: GeneCards:  TPI1  Malacards:  TPI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0046166	glyceraldehyde-3-phosphate biosynthetic process	IBA	biological process
GO:0019563	glycerol catabolic process	IBA	biological process
GO:0006094	gluconeogenesis	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004807	triose-phosphate isomerase activity	IBA	molecular function
GO:0006096	glycolytic process	IBA	biological process
GO:0046166	glyceraldehyde-3-phosphate biosynthetic process	IDA	biological process
GO:0004807	triose-phosphate isomerase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0019242	methylglyoxal biosynthetic process	ISS	biological process
GO:0008929	methylglyoxal synthase activity	ISS	molecular function
GO:0004807	triose-phosphate isomerase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0006094	gluconeogenesis	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0004807	triose-phosphate isomerase activity	IEA	molecular function
GO:0008929	methylglyoxal synthase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0019682	glyceraldehyde-3-phosphate metabolic process	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0004807	triose-phosphate isomerase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006094	gluconeogenesis	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004807	triose-phosphate isomerase activity	NAS	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0004807	triose-phosphate isomerase activity	TAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00562	Inositol phosphate metabolism
hsa01230	Biosynthesis of amino acids
hsa00010	Glycolysis / Gluconeogenesis
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Anemia due to disorders of glycolytic enzymes	KEGG:H00664
Anemia due to disorders of glycolytic enzymes	KEGG:H00664
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881