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Literature summary for 3.2.1.48 extracted from

  • Proepsting, M.J.; Kanapin, H.; Jacob, R.; Naim, H.Y.
    A phenylalanine-based folding determinant in intestinal sucrase-isomaltase that functions in the context of a quality control mechanism beyond the endoplasmic reticulum (2005), J. Cell Sci., 118, 2775-2784.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expression of fluorescence-labeled wild-type and mutant enzymes in COS-1 cells Homo sapiens

Protein Variants

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

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
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Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
small intestine
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
SI
-
Homo sapiens
sucrase-isomaltase
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Homo sapiens