Property Summary

NCBI Gene PubMed Count 33
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 6.3e-09
active ulcerative colitis 2.898 3.1e-03

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.
15944403 phenylalanine cluster is required for shielding a folding determinant in the extracellular domain of SI; substitution of a Q by a P at residue 1098 of sucrase disrupts this determinant and elicits retention of SI(Q1098P) in ER and cis-Golgi
15522234 These results suggest that sucrase-isomaltase transcription might be unchanged or lower in maturity-onset diabetes of the young (MODY) type 3, but greater in MODY5.

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.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16543230 2006 Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16329100 2006 Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
15944403 2005 A phenylalanine-based folding determinant in intestinal sucrase-isomaltase that functions in the context of a quality control mechanism beyond the endoplasmic reticulum.
15522234 2004 Effect of mutations in HNF-1alpha and HNF-1beta on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14724820 2003 Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11340066 2001 Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
11003604 2000 Transport and function of syntaxin 3 in human epithelial intestinal cells.
10903344 2000 Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
9092938 1997 A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention.
8609217 1996 Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
8521865 1995 Phosphorylation of the N-terminal intracellular tail of sucrase-isomaltase by cAMP-dependent protein kinase.
7566098 1995 Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.
3925457 1985 Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency.
3896809 1985 Immuno-electronmicroscopical localization of a microvillus membrane disaccharidase in the human small-intestinal epithelium with monoclonal antibodies.
3178143 1988 Regional assignment of the gene coding for human sucrase-isomaltase (SI) to chromosome 3q25-26.
2962903 1987 Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3.
1717481 1991 Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit.
1677636 1991 Expression of sucrase-isomaltase and dipeptidylpeptidase IV in human small intestine and colon.
1560017 1992 Isolation and characterization of the human sucrase-isomaltase gene and demonstration of intestine-specific transcriptional elements.
1353958 1992 Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase.