SI Gene Summary [Human]
This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]
Details
| Type | Protein Coding |
| Official Symbol | SI |
| Official Name | sucrase-isomaltase [Source:HGNC Symbol;Acc:HGNC:10856] |
| Ensembl ID | ENSG00000090402 |
| Bio databases IDs | |
| Aliases | sucrase-isomaltase, Oligosaccharide alpha-1,6-glucosidase, Oligo-1,6-glucosidase, alpha-glucosidase, Alpha-methylglucosidase |
| Synonyms | 2010204N08Rik, Sif1, Sis, SUCIMAL, Sucrase, Sucrase-Isomaltase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SI often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sucrase domain
- polyglycine spacer
- beta-fructofuranosidase
- N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
- enzyme
- oligo-1,6-glucosidase
- protein binding
- sucrose alpha-glucosidase
- Glycosyl hydrolases family 31
- Isomaltase domain
- cytoplasmic domain
- Alpha amylase catalytic domain family
- stalk region
- transmembrane domain
- Trefoil
- Galactose mutarotase-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- disaccharide intolerance, type I
- hereditary disorder
- organismal death
- diabetes mellitus
- Barrett syndrome
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent-insoluble membrane fraction
- nuclear fraction
- cell surface
- cellular membrane
- Plasma Membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- vesicle membrane
- apical membrane
- nuclear envelope
- multivesicular bodies
- Golgi cisternae
- brush border
- microvilli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SI gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sucrose catabolic process
- polysaccharide digestion
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- brush border
- Golgi apparatus
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- alpha-glucosidase activity
- sucrose alpha-glucosidase activity
- carbohydrate binding
- oligo-1,6-glucosidase activity