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MGP003180

UniProt Annotations

Entry Information
Gene Nametriosephosphate isomerase 1
Protein EntryTPIS_HUMAN
UniProt IDP60174
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative promoter usage, Alternative splicing; Named isoforms=3; Name=1; IsoId=P60174-3; Sequence=Displayed; Name=2; IsoId=P60174-1; Sequence=VSP_041895; Name=4; IsoId=P60174-4; Sequence=VSP_045310; Note=Produced by alternative splicing.;
Catalytic ActivityD-glyceraldehyde 3-phosphate = glycerone phosphate.
DiseaseTriosephosphate isomerase deficiency (TPID) [MIM:615512]: An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy. {ECO:0000269|PubMed:2876430, ECO:0000269|PubMed:8503454, ECO:0000269|PubMed:8571957, ECO:0000269|PubMed:9338582, ECO:0000269|Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionP12004:PCNA; NbExp=2; IntAct=EBI-717475, EBI-358311;
PathwayCarbohydrate biosynthesis; gluconeogenesis.
PathwayCarbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate from glycerone phosphate: step 1/1.
PtmThe initiator methionine for isoform 2 is removed.
Sequence CautionSequence=AAB51316.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAB59511.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH07086.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH07812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH09329.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH11611.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH15100.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH17917.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH70129.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH70129.1; Type=Miscellaneous discrepancy; Note=Sequence differs at the C-terminus.; Evidence={ECO:0000305}; Sequence=AAN86636.1; Type=Frameshift; Positions=23; Evidence={ECO:0000305}; Sequence=BAG36090.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA49379.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the triosephosphate isomerase family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:18562316, ECO:0000269|PubMed:8061610}.
Web ResourceName=Wikipedia; Note=Triosephosphate isomerase entry; URL="http://en.wikipedia.org/wiki/Triosephosphate_isomerase";
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