Homo sapiens Protein: SI | |||||||||||||||
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Summary | |||||||||||||||
InnateDB Protein | IDBP-63765.6 | ||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
Gene Symbol | SI | ||||||||||||||
Protein Name | sucrase-isomaltase (alpha-glucosidase) | ||||||||||||||
Synonyms | |||||||||||||||
Species | Homo sapiens | ||||||||||||||
Ensembl Protein | ENSP00000264382 | ||||||||||||||
InnateDB Gene | IDBG-63763 (SI) | ||||||||||||||
Protein Structure | |||||||||||||||
UniProt Annotation | |||||||||||||||
Function | Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides. {ECO:0000269PubMed:20356844}. | ||||||||||||||
Subcellular Localization | Apical cell membrane; Single-pass type II membrane protein. Note=Brush border. | ||||||||||||||
Disease Associations | Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]: Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI. {ECO:0000269PubMed:10903344, ECO:0000269PubMed:11340066, ECO:0000269PubMed:14724820, ECO:0000269PubMed:16329100, ECO:0000269PubMed:8609217}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||
Tissue Specificity | Expressed in the poorly differentiated crypt cells of the small intestine as well as in the mature villous cells. Expressed at very low levels in the colon. {ECO:0000269PubMed:1677636}. | ||||||||||||||
Comments | |||||||||||||||
Interactions | |||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||
PDB ID | |||||||||||||||
InterPro |
IPR000322
Glycoside hydrolase, family 31 IPR000519 P-type trefoil IPR011013 Galactose mutarotase-like domain IPR017853 Glycoside hydrolase, superfamily |
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PFAM |
PF01055
PF00088 |
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PRINTS | |||||||||||||||
PIRSF | |||||||||||||||
SMART |
SM00018
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TIGRFAMs | |||||||||||||||
Post-translational Modifications | |||||||||||||||
Modification | |||||||||||||||
Cross-References | |||||||||||||||
SwissProt | P14410 | ||||||||||||||
PhosphoSite | PhosphoSite-P14410 | ||||||||||||||
TrEMBL | |||||||||||||||
UniProt Splice Variant | |||||||||||||||
Entrez Gene | 6476 | ||||||||||||||
UniGene | Hs.627342 | ||||||||||||||
RefSeq | NP_001032 | ||||||||||||||
HUGO | HGNC:10856 | ||||||||||||||
OMIM | 609845 | ||||||||||||||
CCDS | CCDS3196 | ||||||||||||||
HPRD | 01962 | ||||||||||||||
IMGT | |||||||||||||||
EMBL | AC092695 AC140119 AC144561 BC115034 BC116452 BC132834 BC132860 M22616 X63597 | ||||||||||||||
GenPept | AAA60551 AAI15035 AAI16453 AAI32835 AAI32861 CAA45140 | ||||||||||||||