• Gene id: 6476

Gene Summary

• Gene Symbol: SI   Gene   UCSC   Ensembl
• Gene name: sucrase-isomaltase
• Alternate names: sucrase-isomaltase, intestinal, Alpha-methylglucosidase, Oligo-1,6-glucosidase, alpha-glucosidase, oligosaccharide alpha-1,6-glucosidase,
• Gene location: 3q26.1 (137173643: 137143819)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 609845

Protein Summary

• Protein general information: P14410  
  • Name: Sucrase isomaltase, intestinal [Cleaved into: Sucrase (EC 3.2.1.48); Isomaltase (EC 3.2.1.10)]
  • Length: 1827  
  • Mass: 209453
  • 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
• Sequence:

  MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDEISDSTSTPATTRVTTNPSDSGKCPNVLNDPVNVRI
  NCIPEQFPTEGICAQRGCCWRPWNDSLIPWCFFVDNHGYNVQDMTTTSIGVEAKLNRIPSPTLFGNDINSVLFTT
  QNQTPNRFRFKITDPNNRRYEVPHQYVKEFTGPTVSDTLYDVKVAQNPFSIQVIRKSNGKTLFDTSIGPLVYSDQ
  YLQISTRLPSDYIYGIGEQVHKRFRHDLSWKTWPIFTRDQLPGDNNNNLYGHQTFFMCIEDTSGKSFGVFLMNSN
  AMEIFIQPTPIVTYRVTGGILDFYILLGDTPEQVVQQYQQLVGLPAMPAYWNLGFQLSRWNYKSLDVVKEVVRRN
  REAGIPFDTQVTDIDYMEDKKDFTYDQVAFNGLPQFVQDLHDHGQKYVIILDPAISIGRRANGTTYATYERGNTQ
  HVWINESDGSTPIIGEVWPGLTVYPDFTNPNCIDWWANECSIFHQEVQYDGLWIDMNEVSSFIQGSTKGCNVNKL
  NYPPFTPDILDKLMYSKTICMDAVQNWGKQYDVHSLYGYSMAIATEQAVQKVFPNKRSFILTRSTFAGSGRHAAH
  WLGDNTASWEQMEWSITGMLEFSLFGIPLVGADICGFVAETTEELCRRWMQLGAFYPFSRNHNSDGYEHQDPAFF
  GQNSLLVKSSRQYLTIRYTLLPFLYTLFYKAHVFGETVARPVLHEFYEDTNSWIEDTEFLWGPALLITPVLKQGA
  DTVSAYIPDAIWYDYESGAKRPWRKQRVDMYLPADKIGLHLRGGYIIPIQEPDVTTTASRKNPLGLIVALGENNT
  AKGDFFWDDGETKDTIQNGNYILYTFSVSNNTLDIVCTHSSYQEGTTLAFQTVKILGLTDSVTEVRVAENNQPMN
  AHSNFTYDASNQVLLIADLKLNLGRNFSVQWNQIFSENERFNCYPDADLATEQKCTQRGCVWRTGSSLSKAPECY
  FPRQDNSYSVNSARYSSMGITADLQLNTANARIKLPSDPISTLRVEVKYHKNDMLQFKIYDPQKKRYEVPVPLNI
  PTTPISTYEDRLYDVEIKENPFGIQIRRRSSGRVIWDSWLPGFAFNDQFIQISTRLPSEYIYGFGEVEHTAFKRD
  LNWNTWGMFTRDQPPGYKLNSYGFHPYYMALEEEGNAHGVFLLNSNAMDVTFQPTPALTYRTVGGILDFYMFLGP
  TPEVATKQYHEVIGHPVMPAYWALGFQLCRYGYANTSEVRELYDAMVAANIPYDVQYTDIDYMERQLDFTIGEAF
  QDLPQFVDKIRGEGMRYIIILDPAISGNETKTYPAFERGQQNDVFVKWPNTNDICWAKVWPDLPNITIDKTLTED
  EAVNASRAHVAFPDFFRTSTAEWWAREIVDFYNEKMKFDGLWIDMNEPSSFVNGTTTNQCRNDELNYPPYFPELT
  KRTDGLHFRTICMEAEQILSDGTSVLHYDVHNLYGWSQMKPTHDALQKTTGKRGIVISRSTYPTSGRWGGHWLGD
  NYARWDNMDKSIIGMMEFSLFGMSYTGADICGFFNNSEYHLCTRWMQLGAFYPYSRNHNIANTRRQDPASWNETF
  AEMSRNILNIRYTLLPYFYTQMHEIHANGGTVIRPLLHEFFDEKPTWDIFKQFLWGPAFMVTPVLEPYVQTVNAY
  VPNARWFDYHTGKDIGVRGQFQTFNASYDTINLHVRGGHILPCQEPAQNTFYSRQKHMKLIVAADDNQMAQGSLF
  WDDGESIDTYERDLYLSVQFNLNQTTLTSTILKRGYINKSETRLGSLHVWGKGTTPVNAVTLTYNGNKNSLPFNE
  DTTNMILRIDLTTHNVTLEEPIEINWS

• Structural information:
  • Protein Domains: (61..11-)
    (/note="P-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00779-)
    (932..97-)
    (/note="P-type-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00779"-)
  • Interpro: IPR031727  IPR011013  IPR000322  IPR030458  IPR030459   IPR013780  IPR017853  IPR017957  IPR000519  
  • Prosite: PS00129 PS00707 PS00025 PS51448
  • CDD: cd00111
  • PDB: 3LPO 3LPP
  • PDBsum: 3LPO 3LPP
  • STRING: ENSP00000264382
• Other Databases: GeneCards:  SI  Malacards:  SI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005903	brush border	TAS	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0004575	sucrose alpha-glucosidase activity	IEA	molecular function
GO:0004574	oligo-1,6-glucosidase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0044245	polysaccharide digestion	TAS	biological process
GO:0004575	sucrose alpha-glucosidase activity	TAS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04973	Carbohydrate digestion and absorption
hsa00500	Starch and sucrose metabolism
hsa00052	Galactose metabolism

Diseases

Associated diseases	References
Congenital sucrase-isomaltase deficiency	KEGG:H00115
Congenital sucrase-isomaltase deficiency	KEGG:H00115
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray