UniProt functional annotation for P60174

UniProt code: P60174.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
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. {ECO:0000269|PubMed:18562316, ECO:0000269|PubMed:8061610}.
Ptm: The initiator methionine for isoform 2 is removed.
Disease: Triosephosphate 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.
Similarity: Belongs to the triosephosphate isomerase family. {ECO:0000305}.
Sequence caution: Sequence=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};

Annotations taken from UniProtKB at the EBI.