Cloned (Comment) | Organism |
---|---|
expression of fluorescence-labeled wild-type and mutant enzymes in COS-1 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
F1093A/F1095A/F1099A | site-directed mutagenesis, mutation of the extracellular folding signal motif, CSID-phenotype II-like temperature-sensitive mutant enzyme which undergoes transport arrest in the endoplasmic reticulum/cis-Golgi intermediate and cis-Golgi compartments and acquires correct folding and function at reduced temperatures as a consequence of anterograde and retrograde transport between endoplasmic reticulum and cis-Golgi, overview | Homo sapiens |
Q1098P | naturally occurring mutation, phenotype II of the congenital sucrase-isomaltase deficiency, CSID, the mutation generates a temperature-sensitive and activity-impaired mutant enzyme, congenital enzyme deficiency results in a transport block and retention of the enzyme of the brush border enzyme in the endoplasmic reticulum/cis-Golgi intermediate compartment and the cis-Golgi | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
brush border | - |
Homo sapiens | 5903 | - |
membrane | - |
Homo sapiens | 16020 | - |
additional information | congenital enzyme deficiency results in a transport block and retention of the enzyme of the brush border enzyme in the endoplasmic reticulum/cis-Golgi intermediate compartment and the cis-Golgi, probably the quality control system is involved in retention induced by a retention signal or folding determinant, i.e. the extracellular folding motif F1093-X-F1095-X-X-X-F1099, of the temperature-sensitive Q1098P mutant enzyme | Homo sapiens | - |
- |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | enzyme mutation can cause the congenital sucrase-isomaltase deficiency phenotype II, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
small intestine | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | enzyme mutation can cause the congenital sucrase-isomaltase deficiency phenotype II, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
SI | - |
Homo sapiens |
sucrase-isomaltase | - |
Homo sapiens |