SI - sucrase-isomaltase Gene
Species: Homo sapiens
About SI
This gene has 3 transcripts (splice variants), 201 orthologues, 6 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 299.9), small intestine (RPKM 254.2) and 1 other tissue.
Summary
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]
SI Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001041.4 | NP_001032.2 | sucrase-isomaltase, intestinal |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables oligo-1,6-glucosidase activity |
IDA
IDA: Inferred from direct assay
|
27480812 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
36968271 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in sucrose catabolic process |
IDA
IDA: Inferred from direct assay
|
27480812 | GOA |
SI Protein Structure
Trefoil: Trefoil (P-type) domain (62 - 108)
Glyco_hydro_31: Glycosyl hydrolases family 31 (324 - 797)
Trefoil: Trefoil (P-type) domain (936 - 977)
Glyco_hydro_31: Glycosyl hydrolases family 31 (1195 - 1691)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1827 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sucrase-isomaltase, intestinal |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sucrase-Isomaltase Deficiency, Congenital |
|
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| Lactose Intolerance |
|
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| Pneumatosis Cystoides Intestinalis |
|
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| Diarrhea |
|
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| Residual Stage Of Open Angle Glaucoma |
|
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| Protein-Energy Malnutrition |
|
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| Glycogen Storage Disease Ii |
|
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| Hirata Disease |
|
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| Colon Adenocarcinoma |
|
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| Intestinal Atresia |
|
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| Scheie Syndrome |
|
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| Postgastrectomy Syndrome |
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| Hypoglycemic Coma |
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| Dumping Syndrome |
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| Nutritional Deficiency Disease |
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| Diabetic Autonomic Neuropathy |
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| Danon Disease |
|
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| Diabetes Mellitus, Ketosis-Prone |
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| Glycogen Storage Disease Iii |
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| Chylomicron Retention Disease |
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| Diabetes Mellitus |
|
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| Functional Gastric Disease |
|
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| Colorectal Cancer |
|
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| Dysentery |
|
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| Glycogen Storage Disease |
|
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| Acute Laryngopharyngitis |
|
|
| Sphingolipidosis |
|
|
| Parkinson Disease 17 |
|
|
| Mucopolysaccharidosis, Type Ii |
|
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| Gaucher'S Disease |
|
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| Myoclonic Epilepsy Of Lafora |
|
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| Mucopolysaccharidosis Iii |
|
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| Barre-Lieou Syndrome |
|
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| Lipid Metabolism Disorder |
|
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| Type 2 Diabetes Mellitus |
|
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| Hypertension, Essential |
|
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| Hypertrophic Cardiomyopathy |
|
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| Neuromuscular Disease |
|
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| Peripheral Nervous System Disease |
|
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| Body Mass Index Quantitative Trait Locus 11 |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | SI | VGNC | VGNC:34612 |
| Mus musculus | SI | MGD | MGI:1917233 |
| Canis familiaris | SI | VGNC | VGNC:46161 |
| Rattus norvegicus | SI | RGD | RGD:3675 |
| Felis catus | SI | VGNC | VGNC:65137 |
| Macaca mulatta | SI | VGNC | VGNC:77213 |
| Others | SI | NCBI |