Human Gene TPI1 (ENST00000229270.8) from GENCODE V44
  Description: D-glyceraldehyde 3-phosphate = glycerone phosphate. (from UniProt P60174)
RefSeq Summary (NM_001159287): 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 triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009].
Gencode Transcript: ENST00000229270.8
Gencode Gene: ENSG00000111669.15
Transcript (Including UTRs)
   Position: hg38 chr12:6,867,119-6,870,948 Size: 3,830 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr12:6,867,456-6,870,383 Size: 2,928 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:6,867,119-6,870,948)mRNA (may differ from genome)Protein (286 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIneXtProtPubMedReactome
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: TPIS_HUMAN
DESCRIPTION: RecName: Full=Triosephosphate isomerase; Short=TIM; EC=5.3.1.1; AltName: Full=Triose-phosphate isomerase;
CATALYTIC ACTIVITY: D-glyceraldehyde 3-phosphate = glycerone phosphate.
PATHWAY: Carbohydrate biosynthesis; gluconeogenesis.
PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate from glycerone phosphate: step 1/1.
SUBUNIT: Homodimer.
PTM: The initiator methionine for isoform 2 is removed.
DISEASE: Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]. TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection.
SIMILARITY: Belongs to the triosephosphate isomerase family.
SEQUENCE CAUTION: Sequence=AAB51316.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAB59511.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07086.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07812.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH09329.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH11611.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH15100.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH17917.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH70129.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH70129.1; Type=Miscellaneous discrepancy; Note=Sequence differs at the C-terminus; Sequence=AAN86636.1; Type=Frameshift; Positions=23; Sequence=BAG36090.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA49379.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Wikipedia; Note=Triosephosphate isomerase entry; URL="http://en.wikipedia.org/wiki/Triosephosphate_isomerase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TPI1
Diseases sorted by gene-association score: hemolytic anemia due to triosephosphate isomerase deficiency* (1667), congenital hemolytic anemia (20), giardiasis (19), phosphoglycerate kinase deficiency (11), molybdenum cofactor deficiency (7), hemolytic anemia (7), visceral leishmaniasis (6), pfeiffer syndrome (6), parasitic protozoa infectious disease (1), leber congenital amaurosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 327.35 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 3934.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -149.80337-0.445 Picture PostScript Text
3' UTR -169.70565-0.300 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013785 - Aldolase_TIM
IPR022896 - TrioseP_Isoase_bac/euk
IPR000652 - Triosephosphate_isomerase
IPR020861 - Triosephosphate_isomerase_AS

Pfam Domains:
PF00121 - Triosephosphate isomerase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1HTI - X-ray MuPIT 1WYI - X-ray MuPIT 2IAM - X-ray MuPIT 2IAN - X-ray MuPIT 2JK2 - X-ray MuPIT 2VOM - X-ray MuPIT 4E41 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P60174
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004807 triose-phosphate isomerase activity
GO:0005515 protein binding
GO:0016853 isomerase activity
GO:0031625 ubiquitin protein ligase binding

Biological Process:
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0007275 multicellular organism development
GO:0008152 metabolic process
GO:0019563 glycerol catabolic process
GO:0019682 glyceraldehyde-3-phosphate metabolic process
GO:0046166 glyceraldehyde-3-phosphate biosynthetic process
GO:0061621 canonical glycolysis

Cellular Component:
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  M10036 - Human triosephosphate isomerase mRNA, complete cds.
D28460 - Homo sapiens mRNA for triosephosphate isomerase, 5'UTR region.
BC070129 - Homo sapiens triosephosphate isomerase 1, mRNA (cDNA clone MGC:88108 IMAGE:6725406), complete cds.
BC015100 - Homo sapiens triosephosphate isomerase 1, mRNA (cDNA clone MGC:22828 IMAGE:3829453), complete cds.
EU794668 - Homo sapiens epididymis secretory protein Li 49 (HEL-S-49) mRNA, complete cds.
AK313282 - Homo sapiens cDNA, FLJ93794, Homo sapiens triosephosphate isomerase 1 (TPI1), mRNA.
AK300661 - Homo sapiens cDNA FLJ52069 complete cds, highly similar to Triosephosphate isomerase (EC 5.3.1.1).
BC007086 - Homo sapiens triosephosphate isomerase 1, mRNA (cDNA clone MGC:14696 IMAGE:4244564), complete cds.
AK129488 - Homo sapiens cDNA FLJ25977 fis, clone ADG00662, highly similar to Triosephosphate isomerase (EC 5.3.1.1).
BC017917 - Homo sapiens triosephosphate isomerase 1, mRNA (cDNA clone MGC:23862 IMAGE:4296431), complete cds.
BC009885 - Homo sapiens cDNA clone IMAGE:3959863, **** WARNING: chimeric clone ****.
AK222638 - Homo sapiens mRNA for triosephosphate isomerase 1 variant, clone: CBL05173.
BC009329 - Homo sapiens triosephosphate isomerase 1, mRNA (cDNA clone MGC:16683 IMAGE:4126160), complete cds.
BC011611 - Homo sapiens triosephosphate isomerase 1, mRNA (cDNA clone MGC:11372 IMAGE:3956298), complete cds.
BC007812 - Homo sapiens triosephosphate isomerase 1, mRNA (cDNA clone MGC:14348 IMAGE:4298901), complete cds.
AB590181 - Synthetic construct DNA, clone: pFN21AE1370, Homo sapiens TPI1 gene for triosephosphate isomerase 1, without stop codon, in Flexi system.
DQ893249 - Synthetic construct clone IMAGE:100005879; FLH195612.01X; RZPDo839E04152D triosephosphate isomerase 1 (TPI1) gene, encodes complete protein.
DQ896578 - Synthetic construct Homo sapiens clone IMAGE:100011038; FLH195608.01L; RZPDo839E04151D triosephosphate isomerase 1 (TPI1) gene, encodes complete protein.
KJ905943 - Synthetic construct Homo sapiens clone ccsbBroadEn_15613 TPI1 gene, encodes complete protein.
KJ892307 - Synthetic construct Homo sapiens clone ccsbBroadEn_01701 TPI1 gene, encodes complete protein.
KR710097 - Synthetic construct Homo sapiens clone CCSBHm_00009620 TPI1 (TPI1) mRNA, encodes complete protein.
KR710098 - Synthetic construct Homo sapiens clone CCSBHm_00009623 TPI1 (TPI1) mRNA, encodes complete protein.
KR710099 - Synthetic construct Homo sapiens clone CCSBHm_00009627 TPI1 (TPI1) mRNA, encodes complete protein.
KR710100 - Synthetic construct Homo sapiens clone CCSBHm_00009630 TPI1 (TPI1) mRNA, encodes complete protein.
CR541702 - Homo sapiens full open reading frame cDNA clone RZPDo834H0728D for gene TPI1, triosephosphate isomerase 1; complete cds, without stopcodon.
AK298809 - Homo sapiens cDNA FLJ55297 complete cds, highly similar to Triosephosphate isomerase (EC 5.3.1.1).
DQ599712 - Homo sapiens piRNA piR-37778, complete sequence.
BC017165 - Homo sapiens, Similar to triosephosphate isomerase 1, clone IMAGE:3909707, mRNA, partial cds.
JD023540 - Sequence 4564 from Patent EP1572962.
JD048005 - Sequence 29029 from Patent EP1572962.
JD092766 - Sequence 73790 from Patent EP1572962.
JD022511 - Sequence 3535 from Patent EP1572962.
JD208309 - Sequence 189333 from Patent EP1572962.
JD126403 - Sequence 107427 from Patent EP1572962.
JD188767 - Sequence 169791 from Patent EP1572962.
JD026969 - Sequence 7993 from Patent EP1572962.
JD029404 - Sequence 10428 from Patent EP1572962.
JD354990 - Sequence 336014 from Patent EP1572962.
JD086464 - Sequence 67488 from Patent EP1572962.
JD099273 - Sequence 80297 from Patent EP1572962.
JD089406 - Sequence 70430 from Patent EP1572962.
JD230439 - Sequence 211463 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00051 - Fructose and mannose metabolism
hsa00562 - Inositol phosphate metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P60174 (Reactome details) participates in the following event(s):

R-HSA-70454 dihydroxyacetone phosphate <=> D-glyceraldehyde 3-phosphate
R-HSA-70481 D-glyceraldehyde 3-phosphate <=> dihydroxyacetone phosphate
R-HSA-70171 Glycolysis
R-HSA-70263 Gluconeogenesis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: D3DUS9, ENST00000229270.1, ENST00000229270.2, ENST00000229270.3, ENST00000229270.4, ENST00000229270.5, ENST00000229270.6, ENST00000229270.7, M10036, P00938, P60174, Q6FHP9, Q6IS07, Q8WWD0, Q96AG5, TPI, TPIS_HUMAN, uc001qrk.1, uc001qrk.2, uc001qrk.3, uc001qrk.4, uc001qrk.5
UCSC ID: ENST00000229270.8
RefSeq Accession: NM_001159287
Protein: P60174 (aka TPIS_HUMAN)
CCDS: CCDS53740.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.