SI (sucrase-isomaltase)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6476
Gene name Gene Name - the full gene name approved by the HGNC.
Sucrase-isomaltase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SI
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
GATA4 Activation 22539995
PIAS1 Activation 22539995
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609845 10856 ENSG00000090402
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Galactose metabolism
Starch and sucrose metabolism
Metabolic pathways
Carbohydrate digestion and absorption 		  Digestion of dietary carbohydrate
Intestinal saccharidase deficiencies
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
sucrase-isomaltase deficiency Sucrase-isomaltase deficiency rs200972419, rs267607049, rs121912612, rs121912613, rs121912614, rs776569472, rs200451408, rs758259365, rs1553775177, rs1221816681 N/A
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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