T3DB: Sucrase-isomaltase, intestinal

Name	Sucrase-isomaltase, intestinal
Synonyms	3.2.1.48
Gene Name	SI
Organism	Human
Amino acid sequence	>lcl\|BSEQ0010819\|Sucrase-isomaltase, intestinal 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
Number of residues	1827
Molecular Weight	209451.49
Theoretical pI	5.39
GO Classification	Functions alpha-1,4-glucosidase activity oligo-1,6-glucosidase activity sucrose alpha-glucosidase activity carbohydrate binding Processes polysaccharide digestion small molecule metabolic process carbohydrate metabolic process Components brush border plasma membrane Golgi apparatus integral component of membrane extracellular exosome apical plasma membrane
General Function	Sucrose alpha-glucosidase activity
Specific 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.
Pfam Domain Function	Glyco_hydro_31 (PF01055 ) Trefoil (PF00088 ) NtCtMGAM_N (PF16863 )
Transmembrane Regions	13-32
GenBank Protein ID	36645
UniProtKB ID	P14410
UniProtKB Entry Name	SUIS_HUMAN
Cellular Location	Apical cell membrane
Gene sequence	>lcl\|BSEQ0010820\|Sucrase-isomaltase, intestinal (SI) ATGGCAAGAAAGAAATTTAGTGGATTGGAAATCTCTCTGATTGTCCTTTTTGTCATAGTT ACTATAATAGCTATTGCCTTAATTGTTGTTTTAGCAACTAAGACACCTGCTGTTGATGAA ATTAGTGATTCTACTTCAACTCCAGCTACTACTCGTGTGACTACAAATCCTTCTGATTCA GGAAAATGTCCAAATGTGTTAAATGATCCTGTCAATGTGAGAATAAACTGCATTCCAGAA CAATTCCCAACAGAGGGAATTTGTGCACAGAGAGGCTGCTGCTGGAGGCCGTGGAATGAC TCTCTTATTCCTTGGTGCTTCTTCGTTGATAATCATGGTTATAACGTTCAAGACATGACA ACAACAAGTATTGGAGTTGAAGCCAAATTAAACAGGATACCTTCACCTACACTATTTGGA AATGACATCAACAGTGTTCTCTTCACAACTCAAAATCAGACACCCAATCGTTTCCGGTTC AAGATTACTGATCCAAATAATAGAAGATATGAAGTTCCTCATCAGTATGTAAAAGAGTTT ACTGGACCCACAGTTTCTGATACGTTGTATGATGTGAAGGTTGCCCAAAACCCATTTAGC ATCCAAGTTATTAGGAAAAGCAACGGTAAAACTTTGTTTGACACCAGCATTGGTCCCTTA GTGTACTCTGACCAGTACTTACAGATCTCAACCCGTCTTCCAAGTGATTATATTTATGGT ATTGGAGAACAAGTTCATAAGAGATTTCGTCATGATTTATCCTGGAAAACATGGCCAATT TTTACTCGAGACCAACTTCCTGGTGATAATAATAATAATTTATACGGCCATCAAACATTC TTTATGTGTATTGAAGATACATCTGGAAAGTCATTCGGTGTTTTTTTAATGAATAGCAAT GCAATGGAGATTTTTATCCAGCCTACTCCAATAGTAACATATAGAGTTACCGGTGGCATT CTGGATTTTTACATCCTTCTAGGAGATACACCAGAACAAGTAGTTCAACAGTATCAACAG CTTGTTGGACTACCAGCAATGCCAGCATATTGGAATCTTGGATTCCAACTAAGTCGCTGG AATTATAAGTCACTAGATGTAGTGAAAGAAGTGGTAAGGAGAAACCGGGAAGCTGGCATA CCATTTGATACACAGGTCACTGATATTGACTACATGGAAGACAAGAAAGACTTTACTTAT GATCAAGTTGCGTTTAACGGACTCCCTCAATTTGTGCAAGATTTGCATGACCATGGACAG AAATATGTCATCATCTTGGACCCTGCAATTTCCATAGGTCGACGTGCCAATGGAACAACA TATGCAACCTATGAGAGGGGAAACACACAACATGTGTGGATAAATGAGTCAGATGGAAGT ACACCAATTATTGGAGAGGTATGGCCAGGATTAACAGTATACCCTGATTTCACTAACCCA AACTGCATTGATTGGTGGGCAAATGAATGCAGTATTTTCCATCAAGAAGTGCAATATGAT GGACTTTGGATTGACATGAATGAAGTTTCCAGCTTTATTCAAGGTTCAACAAAAGGATGT AATGTAAACAAATTGAATTATCCACCGTTTACTCCTGATATTCTTGACAAACTCATGTAT TCCAAAACAATTTGCATGGATGCTGTGCAGAACTGGGGTAAACAGTATGATGTTCATAGC CTCTATGGATACAGCATGGCTATAGCCACAGAGCAAGCTGTACAAAAAGTTTTTCCTAAT AAGAGAAGCTTCATTCTTACCCGCTCAACATTTGCTGGATCTGGAAGACATGCTGCGCAT TGGTTAGGAGACAATACTGCTTCATGGGAACAAATGGAATGGTCTATAACTGGAATGCTG GAGTTCAGTTTGTTTGGAATACCTTTGGTTGGAGCAGACATCTGTGGATTTGTGGCTGAA ACCACAGAAGAACTTTGCAGAAGATGGATGCAACTTGGGGCATTTTATCCATTTTCCAGA AACCATAATTCTGACGGATATGAACATCAGGATCCTGCATTTTTTGGGCAGAATTCACTT TTGGTTAAATCATCAAGGCAGTATTTAACTATTCGCTACACCTTATTACCCTTCCTCTAC ACTCTGTTTTATAAAGCCCATGTGTTTGGAGAAACAGTAGCAAGACCAGTTCTTCATGAG TTTTATGAGGATACGAACAGCTGGATTGAGGACACTGAGTTTTTGTGGGGCCCTGCATTA CTTATTACTCCTGTTCTAAAACAGGGAGCAGATACTGTGAGTGCCTACATCCCTGATGCT ATTTGGTATGATTATGAATCTGGTGCAAAAAGGCCATGGAGGAAACAACGGGTTGATATG TATCTTCCAGCAGACAAAATAGGATTACATCTTAGAGGAGGTTATATCATCCCCATTCAA GAACCAGATGTAACAACAACAGCAAGCCGTAAGAATCCTCTAGGACTTATAGTCGCATTA GGTGAAAACAACACAGCCAAAGGAGACTTTTTCTGGGATGATGGAGAAACTAAAGATACA ATACAAAATGGCAACTACATATTATATACATTTTCAGTTTCTAATAACACATTAGATATT GTGTGCACACATTCATCATATCAGGAAGGAACTACCTTAGCATTTCAGACTGTAAAAATC CTTGGGTTGACAGACAGTGTTACAGAAGTTAGAGTGGCGGAAAATAATCAACCAATGAAC GCTCATTCCAATTTCACTTATGATGCTTCTAACCAGGTTCTCCTAATTGCAGATCTCAAA CTTAATCTTGGAAGAAACTTTAGTGTTCAATGGAATCAAATTTTCTCAGAAAATGAAAGA TTTAATTGTTATCCAGATGCAGATTTGGCAACTGAACAAAAGTGCACACAACGTGGCTGT GTATGGAGAACGGGTTCTTCTCTATCCAAAGCACCTGAGTGTTACTTTCCCAGACAAGAT AACTCTTATTCAGTCAACTCAGCTCGCTATTCATCCATGGGTATAACAGCTGACCTCCAA CTAAATACTGCAAATGCCAGAATAAAGTTACCTTCTGACCCCATCTCAACTCTTCGTGTG GAGGTGAAATATCACAAAAATGATATGTTGCAGTTTAAGATTTATGATCCCCAAAAGAAG AGATATGAAGTACCAGTACCGTTAAACATTCCAACCACCCCAATAAGTACTTATGAAGAC AGACTTTATGATGTGGAAATCAAGGAAAATCCTTTTGGCATCCAGATTCGACGGAGAAGC AGTGGAAGAGTCATTTGGGATTCTTGGCTGCCTGGATTTGCTTTTAATGACCAGTTCATT CAAATATCGACTCGCCTGCCATCAGAATATATATATGGTTTTGGGGAAGTGGAACATACA GCATTTAAGCGAGATCTGAACTGGAATACTTGGGGAATGTTCACAAGAGACCAACCCCCT GGTTACAAACTTAATTCCTATGGATTTCATCCCTATTACATGGCTCTGGAAGAGGAGGGC AATGCTCATGGTGTTTTCTTACTCAACAGCAATGCAATGGATGTTACATTCCAGCCAACT CCTGCTCTAACTTACCGTACAGTTGGAGGGATCTTGGATTTTTATATGTTTTTGGGCCCA ACTCCAGAAGTTGCAACAAAGCAATACCATGAAGTAATTGGCCATCCAGTCATGCCAGCT TATTGGGCTTTGGGATTCCAATTATGTCGTTATGGATATGCAAATACTTCAGAGGTTCGG GAATTATATGACGCTATGGTGGCTGCTAACATCCCCTATGATGTTCAGTACACAGACATT GACTACATGGAAAGGCAGCTAGACTTTACAATTGGTGAAGCATTCCAGGACCTTCCTCAG TTTGTTGACAAAATAAGAGGAGAAGGAATGAGATACATTATTATCCTGGATCCAGCAATT TCAGGAAATGAAACAAAGACTTACCCTGCATTTGAAAGAGGACAGCAGAATGATGTCTTT GTCAAATGGCCAAACACCAATGACATTTGTTGGGCAAAGGTTTGGCCAGATTTGCCCAAC ATAACAATAGATAAAACTCTAACGGAAGATGAAGCTGTTAATGCTTCCAGAGCTCATGTA GCTTTCCCAGATTTCTTCAGGACTTCCACAGCAGAGTGGTGGGCCAGAGAAATTGTGGAC TTTTACAATGAAAAGATGAAGTTTGATGGTTTGTGGATTGATATGAATGAGCCATCAAGT TTTGTAAATGGAACAACTACTAATCAATGCAGAAATGACGAACTAAATTATCCACCTTAT TTCCCAGAACTCACAAAAAGAACTGATGGATTACATTTCAGAACAATTTGCATGGAAGCT GAGCAGATTCTTAGTGATGGAACATCAGTTTTGCATTACGATGTTCACAATCTCTATGGA TGGTCACAGATGAAACCTACTCATGATGCATTGCAGAAGACAACTGGAAAAAGAGGGATT GTAATTTCTCGTTCCACGTATCCTACTAGTGGACGATGGGGAGGACACTGGCTTGGAGAC AACTATGCACGATGGGACAACATGGACAAATCAATCATTGGTATGATGGAATTTAGTCTG TTTGGAATGTCATATACTGGAGCAGACATCTGTGGTTTTTTCAACAACTCAGAATATCAT CTCTGTACCCGCTGGATGCAACTTGGAGCATTTTATCCATACTCAAGGAATCACAACATT GCAAATACTAGAAGACAAGATCCCGCTTCCTGGAATGAAACTTTTGCTGAAATGTCAAGG AATATTCTAAATATTAGATACACCTTATTGCCCTATTTTTACACACAAATGCATGAAATT CATGCTAATGGTGGCACTGTTATCCGACCCCTTTTGCATGAGTTCTTTGATGAAAAACCA ACCTGGGATATATTCAAGCAGTTCTTATGGGGTCCAGCATTTATGGTTACCCCAGTACTG GAACCTTATGTTCAAACTGTAAATGCCTACGTCCCCAATGCTCGGTGGTTTGACTACCAT ACAGGCAAAGATATTGGCGTCAGAGGACAATTTCAAACATTTAATGCTTCTTATGACACA ATAAACCTACATGTCCGTGGTGGTCACATCCTACCATGTCAAGAGCCAGCTCAAAACACA TTTTACAGTCGACAAAAACACATGAAGCTCATTGTTGCTGCAGATGATAATCAGATGGCA CAGGGTTCTCTGTTTTGGGATGATGGAGAGAGTATAGACACCTATGAAAGAGACCTATAT TTATCTGTACAATTTAATTTAAACCAGACCACCTTAACAAGCACTATATTGAAGAGAGGT TACATAAATAAAAGTGAAACGAGGCTTGGATCCCTTCATGTATGGGGGAAAGGAACTACT CCTGTCAATGCAGTTACTCTAACGTATAACGGAAATAAAAATTCGCTTCCTTTTAATGAA GACACTACCAACATGATATTACGTATTGATCTGACCACACACAATGTTACTCTAGAAGAA CCAATAGAAATCAACTGGTCATGA
GenBank Gene ID	X63597
GeneCard ID	Not Available
GenAtlas ID	SI
HGNC ID	HGNC:10856
Chromosome Location	3
Locus	3q25.2-q26.2
References	Chantret I, Lacasa M, Chevalier G, Ruf J, Islam I, Mantei N, Edwards Y, Swallow D, Rousset M: Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase. 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Nature. 2006 Apr 27;440(7088):1194-8. 16641997 Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334 Green F, Edwards Y, Hauri HP, Povey S, Ho MW, Pinto M, Swallow D: Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3. Gene. 1987;57(1):101-10. 2962903 Gorvel JP, Ferrero A, Chambraud L, Rigal A, Bonicel J, Maroux S: Expression of sucrase-isomaltase and dipeptidylpeptidase IV in human small intestine and colon. Gastroenterology. 1991 Sep;101(3):618-25. 1677636 Keller P, Semenza G, Shaltiel S: Phosphorylation of the N-terminal intracellular tail of sucrase-isomaltase by cAMP-dependent protein kinase. Eur J Biochem. 1995 Nov 1;233(3):963-8. 8521865 Sim L, Willemsma C, Mohan S, Naim HY, Pinto BM, Rose DR: Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains. J Biol Chem. 2010 Jun 4;285(23):17763-70. doi: 10.1074/jbc.M109.078980. Epub 2010 Mar 31. 20356844 Ouwendijk J, Moolenaar CE, Peters WJ, Hollenberg CP, Ginsel LA, Fransen JA, Naim HY: 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. J Clin Invest. 1996 Feb 1;97(3):633-41. 8609217 Jacob R, Zimmer KP, Schmitz J, Naim HY: Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. J Clin Invest. 2000 Jul;106(2):281-7. 10903344 Spodsberg N, Jacob R, Alfalah M, Zimmer KP, Naim HY: Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. J Biol Chem. 2001 Jun 29;276(26):23506-10. Epub 2001 May 4. 11340066 Ritz V, Alfalah M, Zimmer KP, Schmitz J, Jacob R, Naim HY: Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. Gastroenterology. 2003 Dec;125(6):1678-85. 14724820 Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY: Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat. 2006 Jan;27(1):119. 16329100