SI (sucrase-isomaltase)

2014-03-01  

Identity

HGNC
SI
LOCATION
3q26.1
LOCUSID
6476
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6476
MIM: 609845
HGNC: 10856
Ensembl: ENSG00000090402

Variants:

dbSNP: 6476
ClinVar: 6476
TCGA: ENSG00000090402
COSMIC: SI

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090402ENST00000264382P14410
ENSG00000090402ENST00000476593F8WF21

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Galactose metabolismKEGGko00052
Starch and sucrose metabolismKEGGko00500
Galactose metabolismKEGGhsa00052
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Digestion of dietary carbohydrateREACTOMER-HSA-189085

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
163291002006Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.13
191213182009Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.13
231036502012Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.10
208413512010Core2 O-glycan structure is essential for the cell surface expression of sucrase isomaltase and dipeptidyl peptidase-IV during intestinal cell differentiation.9
234183052013Functional analysis of sucrase-isomaltase mutations from chronic lymphocytic leukemia patients.8
165432302006Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency.7
294082902018Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.7
171944522007HNF-1alpha participates in glucose regulation of sucrase-isomaltase gene expression in epithelial intestinal cells.5
254523242015Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.5
280622762017Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.5

Citation

Dessen P

SI (sucrase-isomaltase)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53724/si