sucrase-isomaltase

Summary
Gene Symbol
  • SI
Aliases
  • Alpha-methylglucosidase
  • Oligo-1,6-glucosidase
  • Oligosaccharide alpha-1,6-glucosidase
  • alpha-glucosidase
Organism
Homo sapiens (human)
External Links
NCBI Gene
6476
HGNC
10856
KEGG Gene ID
hsa:6476
PubChem
6476
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cell membrane
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosidase
  • Multifunctional enzyme
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Signal-anchor
  • Sulfation
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P14410
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
polysaccharide digestion
sucrose catabolic process
GO Hierarchy
Human Protein Atlas
ENSG00000090402

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01203
Name
sucrase-isomaltase [EC:3.2.1.48 3.2.1.10]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R06199
Disease
Disease Ontology
Displaying entries 11 - 20 of 154 in total
DO ID Disease Name Source
DOID:0060357 chylomicron retention disease
DOID:0060362 punctate palmoplantar keratoderma type III
DOID:0060891 Parkinson's disease 19A
DOID:0060895 Parkinson's disease 4
DOID:0060896 Parkinson's disease 23
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0080199 colorectal carcinoma
DOID:0080326 familial hypertrophic cardiomyopathy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000787 Nephrolithiasis
HP:0001508 Failure to thrive
HP:0002013 Vomiting
HP:0002014 Diarrhea
HP:0002018 Nausea
HP:0002019 Constipation
HP:0002020 Gastroesophageal reflux
HP:0002024 Malabsorption
HP:0002027 Abdominal pain
Displaying all 2 entries
Disease ID Disease Name
OMIM:222900
  • congenital sucrase-isomaltase deficiency
ORPHA:35122
  • congenital sucrase-isomaltase deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024