Property Summary

NCBI Gene PubMed Count 33
Grant Count 308
R01 Count 116
Funding $86,483,553.69
PubMed Score 67.30
PubTator Score 23.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
colon cancer -3.500 0.000
active ulcerative colitis 2.898 0.003

Synonym

Accession P14410 A2RUC3 Q1JQ80 Q1RMC2
Symbols

Gene

SI

PANTHER Protein Class (2)

PDB

3LPO   3LPP  

Gene RIF (12)

PMID Text
25452324 A common mutation was found in the sucrase-isomaltase gene, c.273_274delAG, to be responsible for the high prevalence of congenital sucrase-isomaltase deficiency among Inuit people.
23418305 SI mutations result in loss of enzyme function by preventing the biosynthesis of catalytically competent SI at the cell surface in lymphocytic leukemia
23103650 study found four common mutations in the SI gene (3 of the 4 are in the sucrase domain, with 1 in the isomaltase domain) account for 59 percent of clinical symptoms of congenital sucrase-isomaltase deficiency (CSID); the remaining 41 percent were rare events
21165628 investigation of EIS (enzyme-inhibitor-substrate) complex of sucrase: kinetic studies of complex formation/stability; role of complex in prevention of hyperglycemia by L-arabinose
20841351 Core2 O-glycan structure is essential for expression of SI and DDP-IV during intestinal cell differentiation.
19121318 The effects of mutations in the sucrase domain of SIC1229Y and SIF1745C indicate the importance of a direct interaction between isomaltase and sucrose and the role of sucrose as an intermolecular chaperone in the intracellular transport of SI
17194452 glucose regulation of sucrase-isomaltase gene expression was attenuated in HNF-1alphaT539fsdelC cells, but was well maintained in empty vector & HNF-1betaR177X cells.Results suggest that HNF-1alpha participates in glucose regulation of SI gene expression.
16802690 hepatocyte nuclear factor (HNF)-1alpha and HNF-1beta would contribute to constitutive expression of the SI gene in the differentiated state in Caco-2 cells
16543230 analysis of a mutation which affects an epitope responsible for the apical targeting fidelity of sucrase-isomaltase in congenital sucrase-isomaltase deficiency
16329100 The sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency was analysed.In six out of the 11 patients the phenotype of CSID could be explained by compound heterozygosity.
More...

AA Sequence

MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDEISDSTSTPATTRVTTNPSDSGKCPNVLNDP      1 - 70
VNVRINCIPEQFPTEGICAQRGCCWRPWNDSLIPWCFFVDNHGYNVQDMTTTSIGVEAKLNRIPSPTLFG     71 - 140
NDINSVLFTTQNQTPNRFRFKITDPNNRRYEVPHQYVKEFTGPTVSDTLYDVKVAQNPFSIQVIRKSNGK    141 - 210
TLFDTSIGPLVYSDQYLQISTRLPSDYIYGIGEQVHKRFRHDLSWKTWPIFTRDQLPGDNNNNLYGHQTF    211 - 280
FMCIEDTSGKSFGVFLMNSNAMEIFIQPTPIVTYRVTGGILDFYILLGDTPEQVVQQYQQLVGLPAMPAY    281 - 350
WNLGFQLSRWNYKSLDVVKEVVRRNREAGIPFDTQVTDIDYMEDKKDFTYDQVAFNGLPQFVQDLHDHGQ    351 - 420
KYVIILDPAISIGRRANGTTYATYERGNTQHVWINESDGSTPIIGEVWPGLTVYPDFTNPNCIDWWANEC    421 - 490
SIFHQEVQYDGLWIDMNEVSSFIQGSTKGCNVNKLNYPPFTPDILDKLMYSKTICMDAVQNWGKQYDVHS    491 - 560
LYGYSMAIATEQAVQKVFPNKRSFILTRSTFAGSGRHAAHWLGDNTASWEQMEWSITGMLEFSLFGIPLV    561 - 630
GADICGFVAETTEELCRRWMQLGAFYPFSRNHNSDGYEHQDPAFFGQNSLLVKSSRQYLTIRYTLLPFLY    631 - 700
TLFYKAHVFGETVARPVLHEFYEDTNSWIEDTEFLWGPALLITPVLKQGADTVSAYIPDAIWYDYESGAK    701 - 770
RPWRKQRVDMYLPADKIGLHLRGGYIIPIQEPDVTTTASRKNPLGLIVALGENNTAKGDFFWDDGETKDT    771 - 840
IQNGNYILYTFSVSNNTLDIVCTHSSYQEGTTLAFQTVKILGLTDSVTEVRVAENNQPMNAHSNFTYDAS    841 - 910
NQVLLIADLKLNLGRNFSVQWNQIFSENERFNCYPDADLATEQKCTQRGCVWRTGSSLSKAPECYFPRQD    911 - 980
NSYSVNSARYSSMGITADLQLNTANARIKLPSDPISTLRVEVKYHKNDMLQFKIYDPQKKRYEVPVPLNI    981 - 1050
PTTPISTYEDRLYDVEIKENPFGIQIRRRSSGRVIWDSWLPGFAFNDQFIQISTRLPSEYIYGFGEVEHT   1051 - 1120
AFKRDLNWNTWGMFTRDQPPGYKLNSYGFHPYYMALEEEGNAHGVFLLNSNAMDVTFQPTPALTYRTVGG   1121 - 1190
ILDFYMFLGPTPEVATKQYHEVIGHPVMPAYWALGFQLCRYGYANTSEVRELYDAMVAANIPYDVQYTDI   1191 - 1260
DYMERQLDFTIGEAFQDLPQFVDKIRGEGMRYIIILDPAISGNETKTYPAFERGQQNDVFVKWPNTNDIC   1261 - 1330
WAKVWPDLPNITIDKTLTEDEAVNASRAHVAFPDFFRTSTAEWWAREIVDFYNEKMKFDGLWIDMNEPSS   1331 - 1400
FVNGTTTNQCRNDELNYPPYFPELTKRTDGLHFRTICMEAEQILSDGTSVLHYDVHNLYGWSQMKPTHDA   1401 - 1470
LQKTTGKRGIVISRSTYPTSGRWGGHWLGDNYARWDNMDKSIIGMMEFSLFGMSYTGADICGFFNNSEYH   1471 - 1540
LCTRWMQLGAFYPYSRNHNIANTRRQDPASWNETFAEMSRNILNIRYTLLPYFYTQMHEIHANGGTVIRP   1541 - 1610
LLHEFFDEKPTWDIFKQFLWGPAFMVTPVLEPYVQTVNAYVPNARWFDYHTGKDIGVRGQFQTFNASYDT   1611 - 1680
INLHVRGGHILPCQEPAQNTFYSRQKHMKLIVAADDNQMAQGSLFWDDGESIDTYERDLYLSVQFNLNQT   1681 - 1750
TLTSTILKRGYINKSETRLGSLHVWGKGTTPVNAVTLTYNGNKNSLPFNEDTTNMILRIDLTTHNVTLEE   1751 - 1820
PIEINWS                                                                  1821 - 1827
//

Text Mined References (35)

PMID Year Title
25452324 2015 Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23418305 2013 Functional analysis of sucrase-isomaltase mutations from chronic lymphocytic leukemia patients.
23103650 2012 Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
21165628 2011 Determination of the transient period of the EIS complex and investigation of the suppression of blood glucose levels by L-arabinose in healthy adults.
20841351 2010 Core2 O-glycan structure is essential for the cell surface expression of sucrase isomaltase and dipeptidyl peptidase-IV during intestinal cell differentiation.
20356844 2010 Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains.
19121318 2009 Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
17194452 2007 HNF-1alpha participates in glucose regulation of sucrase-isomaltase gene expression in epithelial intestinal cells.
16802690 2006 Sucrase-isomaltase gene expression is inhibited by mutant hepatocyte nuclear factor (HNF)-1alpha and mutant HNF-1beta in Caco-2 cells.
More...