1. Gene
  2. SI - sucrase-isomaltase Gene

SI - sucrase-isomaltase Gene

Homo sapiens
Gene ID: 6476 | Gene type: protein coding

About SI

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:164,978,898-165,157,921 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference 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 Reference Source
involved in sucrose catabolic process IDA
IDA: Inferred from direct assay
27480812 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SI Protein Structure

Trefoil

Trefoil: Trefoil (P-type) domain (62 - 108)

Glyco_hydro_31

Glyco_hydro_31: Glycosyl hydrolases family 31 (324 - 797)

Trefoil

Trefoil: Trefoil (P-type) domain (936 - 977)

Glyco_hydro_31

Glyco_hydro_31: Glycosyl hydrolases family 31 (1195 - 1691)

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  • 1827 a.a.
Protein Preferred Names Protein Names

sucrase-isomaltase, intestinal

Alpha-methylglucosidase

Related Diseases

Diseases Alias
Sucrase-Isomaltase Deficiency, Congenital

Congenital Sucrase-Isomaltase Deficiency

CSID

Si Deficiency

Congenital Sucrose Intolerance

Disaccharide Intolerance

Sucrase-Isomaltase Deficiency

Disaccharide Intolerance I

Congenital Sucrose-Isomaltose Malabsorption

Sucrose-Isomaltose Malabsorption, Congenital

Sucrose Intolerance, Congenital

Congenital Sucrase-Isomaltose Malabsorption

Congenital Sucrose-Isomaltase Malabsorption

Disaccharide Intolerance, 1

Sucrose Intolerance Congenital

Sucrose-Isomaltase Malabsorption, Congenital

Disaccharidase Deficiency

Invertase Deficiency

Sucrase-Alpha-Dextrinase Deficiency

Disaccharide Intolerance Type I

Csid - [Congenital Sucrase-Isomaltase Deficiency]

Sucrose Intolerance Of Newborn

Sucrose Intolerance

Sucrase Deficiency

Disaccharide Malabsorption

Intestinal Disaccharidase Deficiency

Lactose Intolerance

Lactose Malabsorption

Lm - Lactose Malabsorption

Alactasia

Dairy Product Intolerance

Hypolactasia

Milk Sugar Intolerance

Cow Milk Enteropathy

Intolerance Or Malabsorption Of Lactose

Lm - [Lactose Malabsorption]

Milk Intolerance

Pneumatosis Cystoides Intestinalis
Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Residual Stage Of Open Angle Glaucoma

Open-Angle Glaucoma Residual Stage

Protein-Energy Malnutrition

PEM

Protein Energy Malnutrition

Glycogen Storage Disease Ii

Pompe Disease

Glycogen Storage Disease Type Ii

Acid Maltase Deficiency

Gsd Ii

Gaa Deficiency

Alpha-1,4-Glucosidase Deficiency

Glycogenosis Type Ii

GSD2

Acid Alpha-Glucosidase Deficiency

Amd

Glycogen Storage Disease, Type Ii

Pompe'S Disease

Glycogen Storage Disease Type 2

Cardiomegalia Glycogenica Diffusa

Acid Maltase Deficiency Disease

Deficiency Of Alpha-Glucosidase

Glycogenosis, Generalized, Cardiac Form

Deficiency Of Glucoamylase

Deficiency Of Maltase

Generalized Glycogenosis

Glycogenosis, Type 2

Lysosomal Alpha-1,4-Glucosidase Deficiency

Glucosidase Acid-1,4-Alpha Deficiency

Aglucosidase Alfa

Deficiency Of Lysosomal Alpha-Glucosidase

Glycogen Storage Disease Due To Acid Maltase Deficiency

Alpha-1,4-Glucosidase Acid Deficiency

Gsd Due To Acid Maltase Deficiency

Gsd Type 2

Gsd Type Ii

Glycogenosis Due To Acid Maltase Deficiency

Glycogenosis Type 2

Glycogen Storage Disease 2

Cardiomegalia Glycogenica

Glycogenosis Generalized Cardiac Form

Glycogenosis Ii

Gsd-Ii

Storage Disease, Glycogen, Type Ii

Generalized Glycogen Storage Disease Of Infants

Cardiac Form Of Generalized Glycogenosis

Hirata Disease

Insulin Autoimmune Syndrome

Insulin Autoimmune Hypoglycemia

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Intestinal Atresia
Scheie Syndrome

Mucopolysaccharidosis Type Is

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis Type I

Mucopolysaccharidosis I

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis Is

Mucopolysaccharidosis Type 1s

Mucopolysaccharidosis Type V

Hurler Syndrome

Idua Deficiency

Mps I

MPS1S

Mps1-S

Mucopolysaccharidosis Type V, Formerly

Mps V, Formerly

Mps5, Formerly

Lipochondrodystrophy

Mpsis

Mucopolysaccharidosis, Type I

Iduronidase Deficiency Disease

Mps I - Hurler Syndrome

Mucopolysaccharidosis, Mps-I

Mucopolysaccharidosis, Type 1

Attenuated Mps I

Mps 1

Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)

Severe Mps I

Mps I H

Mps I H-S

Mps I S

Mps1

Mpsi

Mucopolysaccharidosis 1s

Mps Is

Mps-Is

Mps V

Mucopolysaccharidosis V

Pfaundler-Hurler Syndrome

L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Mps1 - [Mucopolysaccharidosis Type 1]

Postgastrectomy Syndrome

Postgastrectomy Syndromes

Postgastric Surgery Syndrome

Hypoglycemic Coma
Dumping Syndrome

Jejunal Syndrome

Dumping

Dumping Syndrome

Postgastrectomy Syndromes

Postgastric Surgery Syndrome

Postgastrectomy Syndrome

Post Cibal Syndrome

Postgastrectomy Dumping Syndrome

Nutritional Deficiency Disease

Malnutrition

Nutritional Disorder

Nutritional Deficiency

Nutrition

Deficiency Diseases

Carbamoyl-Phosphate Synthase I Deficiency Disease

Nutrition Disorders

Diabetic Autonomic Neuropathy

Diabetic Neuropathies

Danon Disease

Pseudoglycogenosis Ii

Antopol Disease

Glycogen Storage Disease Iib

Glycogen Storage Disease Type 2b

Glycogen Storage Disease Type Iib

Gsd2b

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

Vacuolar Cardiomyopathy And Myopathy X-Linked

Vacuolar Cardiomyopathy And Myopathy, X-Linked

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

Gsd2b, Formerly

Gsd Iib, Formerly

Glycogen Storage Cardiomyopathy

Glycogen Storage Disease Limited To The Heart

Pseudoglycogenosis 2

X-Linked Vacuolar Cardiomyopathy And Myopathy

Lysosomal Glycogen Storage Disease With Normal Acid Maltase

Glycogen Storage Disease Due To Lamp-2 Deficiency

Gsd Due To Lamp-2 Deficiency

Glycogenosis Due To Lamp-2 Deficiency

Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

DAND

Gsd-Iib

Diabetes Mellitus, Ketosis-Prone

Diabetic Ketoacidosis

KPD

Diabetes Mellitus, Ketosis-Prone, Susceptibility To

Ketosis-Prone Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetic Ketoacidosis Nos

Dka - [Diabetic Ketoacidosis] Nos

Dka - [Diabetic Ketoacidosis] Without Coma

Dka - [Diabetic Ketoacidosis] With Coma

Glycogen Storage Disease Iii

Glycogen Storage Disease Type Iii

Forbes Disease

Cori Disease

Glycogen Storage Disease Iiia

Amylo-1,6-Glucosidase Deficiency

Glycogen Storage Disease Iiib

Limit Dextrinosis

GSD3

Agl Deficiency

Glycogen Debrancher Deficiency

Gde Deficiency

Glycogen Storage Disease Iiic

Debrancher Deficiency

Glycogen Storage Disease Type 3

Glycogenosis Type Iii

Glycogen Storage Disease Iiid

Amylo 1,6 Glucosidase Deficiency

Deficiency Of Debranching Enzyme

Deficiency Of Dextrin

Glycogen Storage Disease, Type Iii

Glycogen Debranching Enzyme Deficiency

Cori'S Disease

Gsd Iii

Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency

Cori-Forbes Disease

Gsd Due To Glycogen Debranching Enzyme Deficiency

Gsd Type 3

Gsdiii

Glycogenosis Due To Glycogen Debranching Enzyme Deficiency

Glycogenosis Type 3

Glycogen Storage Disease 3

Glycogen Debranching Enzyme Deficiency

Gsd-Iii

Gsd Iiia

Gsd Iiib

Gsd Iiic

Gsd Iiid

Storage Disease, Glycogen, Type Iii

Chylomicron Retention Disease

CMRD

Anderson Disease

Lipid Transport Defect Of Intestine

Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

Andd

Anderson Syndrome

Crd

Andersons Disease

Malabsorption Syndrome

Diabetes Mellitus

Diabetes

Functional Gastric Disease
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Dysentery

Infectious Diarrhea

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Acute Laryngopharyngitis

Pharyngolaryngitis

Laryngopharyngitis

Hypopharyngitis

Sphingolipidosis

Sphingolipidoses

Parkinson Disease 17

PARK17

Parkinson'S Disease 17

Autosomal Dominant Parkinson Disease 17

Parkinson Disease, Type 17

Mucopolysaccharidosis, Type Ii

Hunter Syndrome

Iduronate 2-Sulfatase Deficiency

Mucopolysaccharidosis Ii

Mps Ii

Mucopolysaccharidosis Type Ii

MPS2

Sulfoiduronate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Ii

Ids Deficiency

Sids Deficiency

I2s Deficiency

Mucopolysaccharidosis Type 2

Mucopolysaccharidosis Type 2, Severe Form

Deficiency Of Iduronate-2-Sulphatase

Hunter'S Syndrome

Mps Ii - Hunter Syndrome

Iduronate-2-Sulfatase Deficiency

Attenuated Mps

Mps 2

Severe Mps Ii

Mpsii

Mucopolysaccharidosis Type 2, Attenuated Form

Hunter Syndrome Type B

Iduronate 2-Sulfatase Deficiency Type B

Mps2b

Mpsiib

Mucopolysaccharidosis Type 2b

Mucopolysaccharidosis Type Ii, Attenuated Form

Mucopolysaccharidosis Type Iib

Hunter Syndrome Type A

Iduronate 2-Sulfatase Deficiency Type A

Mps2a

Mpsiia

Mucopolysaccharidosis Type 2a

Mucopolysaccharidosis Type Ii, Severe Form

Mucopolysaccharidosis Type Iia

Mucopolysaccharidosis 2

Hunters Syndrome

Iduronate 2-Sulphatase Deficiency

Iduronate Sulfatase Deficiency

Iduronate Sulphatase Deficiency

Sulfo-Iduronate Sulfatase Deficiency

Sulfoiduronidate Sulfatase Deficiency

Sulpho-Iduronate Sulphatase Deficiency

Sulphoiduronidate Sulphatase Deficiency

Mps2 - [Mucopolysaccharidosis 2]

Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Mucopolysaccharidosis Iii

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

Barre-Lieou Syndrome

Cervicocranial Syndrome

Posterior Cervical Sympathetic Syndrome

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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
Macaca fascicularis SI NCBI NCBI:102128108
Canis lupus familiaris SI NCBI
Susscrofa domestica SI NCBI
Leporidae SI NCBI
Others SI NCBI