Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6476
Gene name	Sucrase-isomaltase
Gene symbol	SI
Synonyms (NCBI Gene)	-
Chromosome	3
Chromosome location	3q26.1
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

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79717168	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121912611	T>G	Pathogenic	Missense variant, coding sequence variant
rs121912612	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912613	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912614	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912615	A>C,G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121912616	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs200451408	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs267607049	A>G	Pathogenic	Coding sequence variant, missense variant
rs758259365	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs776569472	AA>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs779803851	G>A	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs780535026	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553775177	A>C	Likely-pathogenic	Splice donor variant

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030316	hsa-miR-26b-5p	Microarray	19088304
MIRT1348092	hsa-miR-1179	CLIP-seq
MIRT1348093	hsa-miR-3121-3p	CLIP-seq
MIRT1348094	hsa-miR-3158-3p	CLIP-seq
MIRT1348095	hsa-miR-3163	CLIP-seq
MIRT1348096	hsa-miR-323-3p	CLIP-seq
MIRT1348097	hsa-miR-369-3p	CLIP-seq
MIRT1348098	hsa-miR-374a	CLIP-seq
MIRT1348099	hsa-miR-374b	CLIP-seq
MIRT1348100	hsa-miR-4263	CLIP-seq
MIRT1348101	hsa-miR-4282	CLIP-seq
MIRT1348102	hsa-miR-4446-3p	CLIP-seq
MIRT1348103	hsa-miR-4735-5p	CLIP-seq
MIRT1348104	hsa-miR-4753-3p	CLIP-seq
MIRT1348105	hsa-miR-576-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
GATA4	Activation	22539995
PIAS1	Activation	22539995

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004558	Function	Alpha-1,4-glucosidase activity	IBA
GO:0004574	Function	Oligo-1,6-glucosidase activity	IDA	27480812
GO:0004574	Function	Oligo-1,6-glucosidase activity	IEA
GO:0004575	Function	Sucrose alpha-glucosidase activity	IEA
GO:0004575	Function	Sucrose alpha-glucosidase activity	TAS
GO:0005515	Function	Protein binding	IPI	36968271
GO:0005794	Component	Golgi apparatus	TAS	1717481
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	TAS	1717481
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005987	Process	Sucrose catabolic process	IDA	27480812
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0044245	Process	Polysaccharide digestion	TAS
GO:0046352	Process	Disaccharide catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090599	Function	Alpha-glucosidase activity	IEA

MIM	HGNC	e!Ensembl
609845	10856	ENSG00000090402

P14410

Protein name

Sucrase-isomaltase, intestinal [Cleaved into: Sucrase (EC 3.2.1.48); Isomaltase (EC 3.2.1.10)]

Protein 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.

PDB

3LPO , 3LPP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00088	Trefoil	63 → 109	Trefoil (P-type) domain	Domain
PF16863	NtCtMGAM_N	125 → 234	N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase	Domain
PF01055	Glyco_hydro_31	324 → 797	Glycosyl hydrolases family 31	Family
PF00088	Trefoil	933 → 977	Trefoil (P-type) domain	Domain
PF16863	NtCtMGAM_N	994 → 1107	N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase	Domain
PF13802	Gal_mutarotas_2	1108 → 1175	Galactose mutarotase-like	Domain
PF01055	Glyco_hydro_31	1195 → 1691	Glycosyl hydrolases family 31	Family

Tissue specificity

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:0000269|PubMed:1677636}.

Sequence

MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDEISDSTSTPATTRVTTNPSDS
GKCPNVLNDPVNVRINCIPEQFPTEGICAQRGCCWRPWNDSLIPWCFFVDNHGYNVQDMT
TTSIGVEAKLNRIPSPTLFGNDINSVLFTTQNQTPNRFRFKITDPNNRRYEVPHQYVKEF
TGPTVSDTLYDVKVAQNPFSIQVIRKSNGKTLFDTSIGPLVYSDQYLQISTRLPSDYIYG
IGEQVHKRFRHDLSWKTWPIFTRDQLPGDNNNNLYGHQTFFMCIEDTSGKSFGVFLMNSN
AMEIFIQPTPIVTYRVTGGILDFYILLGDTPEQVVQQYQQLVGLPAMPAYWNLGFQLSRW
NYKSLDVVKEVVRRNREAGIPFDTQVTDIDYMEDKKDFTYDQVAFNGLPQFVQDLHDHGQ
KYVIILDPAISIGRRANGTTYATYERGNTQHVWINESDGSTPIIGEVWPGLTVYPDFTNP
NCIDWWANECSIFHQEVQYDGLWIDMNEVSSFIQGSTKGCNVNKLNYPPFTPDILDKLMY
SKTICMDAVQNWGKQYDVHSLYGYSMAIATEQAVQKVFPNKRSFILTRSTFAGSGRHAAH
WLGDNTASWEQMEWSITGMLEFSLFGIPLVGADICGFVAETTEELCRRWMQLGAFYPFSR
NHNSDGYEHQDPAFFGQNSLLVKSSRQYLTIRYTLLPFLYTLFYKAHVFGETVARPVLHE
FYEDTNSWIEDTEFLWGPALLITPVLKQGADTVSAYIPDAIWYDYESGAKRPWRKQRVDM
YLPADKIGLHLRGGYIIPIQEPDVTTTASRKNPLGLIVALGENNTAKGDFFWDDGETKDT
IQNGNYILYTFSVSNNTLDIVCTHSSYQEGTTLAFQTVKILGLTDSVTEVRVAENNQPMN
AHSNFTYDASNQVLLIADLKLNLGRNFSVQWNQIFSENERFNCYPDADLATEQKCTQRGC
VWRTGSSLSKAPECYFPRQDNSYSVNSARYSSMGITADLQLNTANARIKLPSDPISTLRV
EVKYHKNDMLQFKIYDPQKKRYEVPVPLNIPTTPISTYEDRLYDVEIKENPFGIQIRRRS
SGRVIWDSWLPGFAFNDQFIQISTRLPSEYIYGFGEVEHTAFKRDLNWNTWGMFTRDQPP
GYKLNSYGFHPYYMALEEEGNAHGVFLLNSNAMDVTFQPTPALTYRTVGGILDFYMFLGP
TPEVATKQYHEVIGHPVMPAYWALGFQLCRYGYANTSEVRELYDAMVAANIPYDVQYTDI
DYMERQLDFTIGEAFQDLPQFVDKIRGEGMRYIIILDPAISGNETKTYPAFERGQQNDVF
VKWPNTNDICWAKVWPDLPNITIDKTLTEDEAVNASRAHVAFPDFFRTSTAEWWAREIVD
FYNEKMKFDGLWIDMNEPSSFVNGTTTNQCRNDELNYPPYFPELTKRTDGLHFRTICMEA
EQILSDGTSVLHYDVHNLYGWSQMKPTHDALQKTTGKRGIVISRSTYPTSGRWGGHWLGD
NYARWDNMDKSIIGMMEFSLFGMSYTGADICGFFNNSEYHLCTRWMQLGAFYPYSRNHNI
ANTRRQDPASWNETFAEMSRNILNIRYTLLPYFYTQMHEIHANGGTVIRPLLHEFFDEKP
TWDIFKQFLWGPAFMVTPVLEPYVQTVNAYVPNARWFDYHTGKDIGVRGQFQTFNASYDT
INLHVRGGHILPCQEPAQNTFYSRQKHMKLIVAADDNQMAQGSLFWDDGESIDTYERDLY
LSVQFNLNQTTLTSTILKRGYINKSETRLGSLHVWGKGTTPVNAVTLTYNGNKNSLPFNE
DTTNMILRIDLTTHNVTLEEPIEINWS

Sequence length

1827

Interactions

View interactions

	KEGG		Reactome
	Galactose metabolism Starch and sucrose metabolism Metabolic pathways Carbohydrate digestion and absorption		Digestion of dietary carbohydrate Intestinal saccharidase deficiencies

459

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital sucrose-isomaltase deficiency	Likely pathogenic; Pathogenic	rs200972419	RCV001250214
SI-related disorder	Likely pathogenic; Pathogenic	rs774405472, rs201055347, rs781470490, rs2473240506, rs2473317311, rs1435641758, rs2473282291	RCV003401994 RCV003401824 RCV004750308 RCV003414501 RCV003405837 RCV003946963 RCV003976862
Sucrase-isomaltase deficiency	Likely pathogenic; Pathogenic	rs1185991890, rs2108219188, rs1714177959, rs2108217077, rs772671498, rs1000661675, rs1298467427, rs898055093, rs375113759, rs1294620045, rs754468827, rs2108202378, rs201055347, rs267607049, rs121912612 View all (23 more)	RCV002476717 RCV001535941 RCV001536069 RCV001785874 RCV005025665 RCV002507698 RCV005032062 RCV005023456 RCV002489908 RCV002468653 RCV005038422 RCV002506888 RCV005038432 RCV000001478 RCV000001479 RCV000001480 RCV000001481 RCV005028147 RCV003989808 RCV005034781 RCV003404134 RCV004017945 RCV005034422 RCV005034447 RCV005034589 RCV003155534 RCV003389590 RCV005036844 RCV005036911 RCV005036924 RCV005030209 RCV000778684 RCV002481579 RCV003129929 RCV000605151 RCV002499337 RCV000778685 RCV001265580

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Benign; Likely benign	rs114438312	RCV005897630
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs79717168	RCV005887190
Prostate cancer	Uncertain significance	rs193921060	RCV000149040

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	8359653, 9409571
Adenoma	Associate	33074011, 38614290
Adenomatous Polyposis Coli	Associate	20945532
Barrett Esophagus	Associate	8359653, 9409571
Colonic Neoplasms	Associate	1764023
Colonic Polyps	Associate	1692546
Colorectal Neoplasms	Associate	18534616, 28402256, 38614290, 8660303
Congenital bilateral aplasia of vas deferens	Associate	34510807
Crohn Disease	Associate	8557656
Diabetes Mellitus	Associate	30875760, 31555798, 36577761
Diabetes Mellitus Type 2	Associate	19371716, 28143583
Diarrhea	Associate	25452324
Drug Related Side Effects and Adverse Reactions	Associate	31690323
Enteritis	Associate	39300661
Failure to Thrive	Associate	12014995, 25452324
Gastrointestinal Diseases	Associate	31557950
Glycogen Storage Disease Type II	Associate	17213836, 19371716, 23570273, 23689405, 24399866, 25409744, 30371346, 37958907, 39849595, 40225932, 8094613
Hypercalcemia	Associate	12014995
Infections	Inhibit	9696817
Inflammation	Inhibit	8557656
Intestinal Diseases	Associate	38614290, 8359653
Intestinal Polyps	Associate	38614290
Irritable Bowel Syndrome	Associate	29408290, 31195706, 31557950, 35985447
Lysosomal Storage Diseases	Associate	19371716
Muscle Weakness	Associate	7668832
Neoplasms	Associate	1692546
Neoplasms	Inhibit	26879013
Nephrocalcinosis	Associate	12014995
Polyps	Associate	1692546
Respiratory Insufficiency	Associate	23570273
Rotavirus Infections	Inhibit	9696817
Sucrase isomaltase deficiency congenital	Associate	10903344, 25452324, 27749612, 31557950, 33772704, 8609217
Sucrase isomaltase deficiency congenital	Inhibit	3925457

SI (sucrase-isomaltase)