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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SI Gene

protein-coding   GIFtS: 62
GCID: GC03M164696

Sucrase-Isomaltase (Alpha-Glucosidase)

(Previous name: sucrase-isomaltase)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sucrase-Isomaltase (Alpha-Glucosidase)1 2     Oligosaccharide Alpha-1,6-Glucosidase2
6-glucosidase1     Sucrase-Isomaltase, Intestinal2
Oligosaccharide Alpha-11     EC 3.2.1.208
sucrase-isomaltase1     

External Ids:    HGNC: 108561   Entrez Gene: 64762   Ensembl: ENSG000000904027   OMIM: 6098455   UniProtKB: P144103   

Export aliases for SI gene to outside databases

Previous GC identifers: GC03M161906 GC03M165752 GC03M166071 GC03M166017 GC03M166179 GC03M162066


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SI 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 subunits heterodimerize to form the sucrose-isomaltase complex. This complex is
essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this
gene are the cause of congenital sucrase-isomaltase deficiency.(provided by RefSeq, Apr 2010)

GeneCards Summary for SI Gene: 
SI (sucrase-isomaltase (alpha-glucosidase)) is a protein-coding gene. Diseases associated with SI include congenital sucrase-isomaltase deficiency, and esophagus adenocarcinoma, and among its related super-pathways are Metabolic pathways and MPS IIIC - Sanfilippo syndrome C. GO annotations related to this gene include carbohydrate binding and oligo-1,6-glucosidase activity. An important paralog of this gene is GAA.

UniProtKB/Swiss-Prot: SUIS_HUMAN, P14410
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SI gene promoter:
         TBP   SRY   AP-1   ATF-2   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSI promoter sequence
   Search SABiosciences Chromatin IP Primers for SI

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SI


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.2-q26.2   Ensembl cytogenetic band:  3q26.1   HGNC cytogenetic band: 3q25.2-q26.2

SI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SI gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M164696:  view genomic region     (about GC identifiers)

Start:
164,696,686 bp from pter      End:
164,796,283 bp from pter
Size:
99,598 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SUIS_HUMAN, P14410 (See protein sequence)
Recommended Name: Sucrase-isomaltase, intestinal  
Size: 1827 amino acids; 209453 Da
Subunit: The resulting sucrase and isomaltase subunits stay associated with one another in a complex by
non-covalent linkages
Subcellular location: Apical cell membrane; Single-pass type II membrane protein. Note=Brush border
Miscellaneous: There is a high degree of homology between the isomaltase and sucrase portions (41% of amino acid
identity) indicating that this protein is evolved by partial gene duplication
2 PDB 3D structures from and Proteopedia for SI:
3LPO (3D)        3LPP (3D)    
Secondary accessions: A2RUC3 Q1JQ80 Q1RMC2

Explore the universe of human proteins at neXtProt for SI: NX_P14410

Explore proteomics data for SI at MOPED 

Post-translational modifications:

  • UniProtKB: The precursor is proteolytically cleaved when exposed to pancreatic proteases in the intestinal lumen
  • UniProtKB: Sulfated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14410

  • 2 DME Specific Peptides for SI (P14410)
     GADICGF  HGVFLLNSN 

    SI Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SI Protein Expression
    REFSEQ proteins: NP_001032.2  
    ENSEMBL proteins: 
     ENSP00000264382   ENSP00000419450  
    Reactome Protein details: P14410
    Human Recombinant Protein Products for SI: 
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    Cloud-Clone Corp. Proteins for SI 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus TAS1717481
    GO:0005886plasma membrane TAS--
    GO:0005903brush border TAS1717481
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    SI for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000322 Glyco_hydro_31
     IPR000519 P_trefoil
     IPR017853 Glycoside_hydrolase_SF
     IPR011013 Gal_mutarotase_SF_dom
     IPR017957 P_trefoil_CS

    Graphical View of Domain Structure for InterPro Entry P14410

    ProtoNet protein and cluster: P14410

    2 Blocks protein domains:
    IPB000322 Glycoside hydrolase
    IPB000519 P-type trefoil domain


    UniProtKB/Swiss-Prot: SUIS_HUMAN, P14410
    Similarity: Belongs to the glycosyl hydrolase 31 family
    Similarity: Contains 2 P-type (trefoil) domains


    SI for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUIS_HUMAN, P14410
    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
    Catalytic activity: Hydrolysis of sucrose and maltose by an alpha-D-glucosidase-type action
    Catalytic activity: Hydrolysis of (1->6)-alpha-D-glucosidic linkages in some oligosaccharides produced from starch
    and glycogen by alpha-amylase, and in isomaltose

         Genatlas biochemistry entry for SI:
    sucrase-isomaltase,alpha D-glucosidase from intestinal mucosa that hydrolyzes sucrose and isomaltose,member of the
    glycosyl hydrolase family 3

         Enzyme Number (IUBMB): EC 3.2.1.202

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004558alpha-glucosidase activity TAS--
    GO:0004574oligo-1,6-glucosidase activity IEA--
    GO:0004575sucrose alpha-glucosidase activity TAS--
         
    SI for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SI 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SI 
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    SwitchGear 3'UTR luciferase reporter plasmidSI 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SI About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    3Galactose metabolism
    Galactose metabolism0.46
    4Glucuronidation
    Starch and sucrose metabolism0.41
    5Fructose catabolism
    sucrose degradation V (mammalian)0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SI
        sucrose degradation V (mammalian)

    3        Reactome Pathways for SI
        Metabolism of carbohydrates
    Digestion of dietary carbohydrate
    Metabolism


    4         Kegg Pathways  (Kegg details for SI):
        Galactose metabolism
    Starch and sucrose metabolism
    Metabolic pathways
    Carbohydrate digestion and absorption


    SI for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for SI (P144103 ENSP000002643824) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    AMY1AENSP000003591004STRING: ENSP00000359100
    GAAENSP000003056924STRING: ENSP00000305692
    GANCENSP000003262274STRING: ENSP00000326227
    AGLENSP000002947244STRING: ENSP00000294724
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0044245polysaccharide digestion TAS--
    GO:0044281small molecule metabolic process TAS--

    SI for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SI for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SI (SUIS)

    8 HMDB Compounds for SI    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    D-FructoseBeta-d-arabino-hexulose (see all 16)53188-23-1--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    DextrinCaloreen (see all 10)9004-53-9--
    Isomaltose6-O-a-D-Glucopyranosyl-D-glucose (see all 4)499-40-1--
    Sucrose(+)-Sucrose (see all 11)57-50-1--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for SI    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Acarbose-- 56180-94-0targetinhibitor2962844 6226260 12864906 16169004 15322845
    Scopolamine(-)-hyoscine (see all 5)51-34-3targetinhibitor20230815

    10/62 Novoseek inferred chemical compound relationships for SI gene (see all 62)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kotalanol 85 6 9734318 (1), 17194097 (1), 18547114 (1)
    salacinol 79 8 9734318 (1), 17194097 (1), 18547114 (1), 18258441 (1) (see all 5)
    palatinose 65.5 4 2370309 (2), 1873472 (1)
    sucrose 59.4 34 8448772 (3), 1574676 (1), 8557677 (1), 17619181 (1) (see all 19)
    lactose 56.4 4 17619181 (1), 15493679 (1), 7638571 (1), 2370309 (1)
    maltose 56.1 8 15493679 (1), 19794929 (1), 17098455 (1), 12547908 (1) (see all 8)
    acarbose 54.3 6 8856576 (1), 9734318 (1), 8949640 (1), 18615280 (1) (see all 5)
    isomaltose 51.8 3 19606851 (1), 7626234 (1)
    starch 50.7 12 12547908 (3), 17619181 (1), 15493679 (1), 18356321 (1) (see all 10)
    lactulose 49.9 2 2370309 (1)

    Search CenterWatch for drugs/clinical trials and news about SI / SUIS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SI gene: 
    NM_001041.3  

    Unigene Cluster for SI:

    Sucrase-isomaltase (alpha-glucosidase)
    Hs.429596  [show with all ESTs]
    Unigene Representative Sequence: NM_001041
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264382(uc003fei.3) ENST00000476593 ENST00000463607
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-549 hsa-miR-576-5p hsa-miR-302d hsa-miR-520e hsa-miR-302a hsa-miR-302e hsa-miR-373 hsa-miR-520a-3p
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    Additional mRNA sequence: 

    BC115033.1 BC115034.1 BC116452.1 BC116453.1 BC132834.1 BC132860.1 M22616.1 X63597.1 

    3 DOTS entries:

    DT.109043  DT.91746935  DT.91746927 

    23 AceView cDNA sequences:

    X63597 BX279613 AA376861 AA376780 AA376756 NM_001041 AW182469 M22616 
    BF002446 T29683 BP383061 AL705739 BX484233 AU100472 BG211440 AU076868 
    BG187733 BG207821 BP383236 BQ318606 AA376948 AW951436 BG218467 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SI (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^
    SP1:              -           -                                                                                                                                 
    SP2:                          -                                                                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for SI

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SI expression in normal human tissues (normalized intensities)      SI embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGTAAATA
    SI Expression
    About this image


    SI expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 5 entries
             small intestine ; glandular cells   
             small intestine   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
             colonic mucosal (ibs)   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Hippocampus

    See SI Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SI

    SOURCE GeneReport for Unigene cluster: Hs.429596

    UniProtKB/Swiss-Prot: SUIS_HUMAN, P14410
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SI gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sis1 , 5 sucrase isomaltase (alpha-glucosidase)1, 5 79.89(n)1
    78.21(a)1
      3 (32.59 cM)5
    699831  NM_001081137.11  NP_001074606.11 
     728885575 
    chicken
    (Gallus gallus)
    Aves --
    --
    45(a)
    possible ortholog
    1(15235835-15281162)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    51(a)
    45(a)
    possible ortholog
    possible ortholog
    3(10892267-10917136)
    5(98885648-98968757)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB207035.12   -- 75.87(n)    CB207035.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd44a092 Transcribed sequence with weak similarity to protein more 76.46(n)    57057514 
    worm
    (Caenorhabditis elegans)
    Secernentea D2096.33   -- 38(a)
    (best of 3)
      IV(8363651-8375533)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROT26
    Glucosidase II catalytic subunit required for norm...
    18(a)
    1 → many
    II(676357-679221)


    ENSEMBL Gene Tree for SI (if available)
    TreeFam Gene Tree for SI (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SI gene
    GAA2  MGAM2  GANC2  ENSG000002577432  GANAB2  
    2 SIMAP similar genes for SI using alignment to 2 protein entries:     SUIS_HUMAN (see all proteins):
    MGAM    GAA

    SI for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SI
    PGOHUM00000239413 PGOHUM00000239414


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2428 SNPs in SI are shown (see all 2428)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0253754
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253752 G D mis40--------
    VAR_0253724
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253722 S P mis40--------
    VAR_0253764
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253762 C Y mis40--------
    VAR_0253684
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253682 Q R mis40--------
    VAR_0253774
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253772 R G mis40--------
    VAR_0253704
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253702 L P mis40--------
    VAR_0253734
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253732 L P mis40--------
    VAR_0253744
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0253742 T P mis40--------
    VAR_0078544
    Congenital sucrase-isomaltase deficiency (CSID)4--see VAR_0078542 Q P mis40--------
    rs797171681,2,4
    C,FCongenital sucrase-isomaltase deficiency (CSID)4 pathogenic1164563847(-) ACAATT/GTAATT 2 /C /F mis13Minor allele frequency- G:0.00NA EU 5193

    HapMap Linkage Disequilibrium report for SI (164696686 - 164796283 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SI:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2577226CNV Deletion19546169
    dgv5331n71CNV Loss21882294
    nsv428426CNV Loss18775914
    dgv5332n71CNV Loss21882294
    nsv518452CNV Loss19592680
    nsv829785CNV Loss17160897


    Human Gene Mutation Database (HGMD): SI
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609845   
    OMIM disorders: 222900  
    UniProtKB/Swiss-Prot: SUIS_HUMAN, P14410
  • Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]: Autosomal recessive intestinal disorder
    that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar.
    The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase.
    The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland,
    Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular
    transport, polarized sorting, aberrant processing, and defective function of SI. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/41 diseases for SI (see all 41):    About MalaCards
    congenital sucrase-isomaltase deficiency    esophagus adenocarcinoma    congenital sucrase-isomaltase deficiency with starch and lactose intolerance    congenital sucrase-isomaltase deficiency with minimal starch tolerance
    congenital sucrase-isomaltase deficiency without starch intolerance    congenital sucrase-isomaltase deficiency with starch intolerance    congenital sucrase-isomaltase deficiency without sucrose intolerance    colonic polyps
    colon adenocarcinoma    microvillus inclusion disease    glycogen storage disease ii    lactose intolerance
    intestinal atresia    barrett's esophagus    giardiasis    diarrhea
    protein-energy malnutrition    short bowel syndrome    barrett's adenocarcinoma    nephrocalcinosis

    2 diseases from the University of Copenhagen DISEASES database for SI:
    Diarrhea     Alcaptonuria

    SI for disorders           About GeneDecksing

    10/40 Novoseek inferred disease relationships for SI gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    disaccharide intolerance 77.5 1 12014995 (1)
    lactase deficiency 77.1 4 12394387 (1), 16844060 (1), 1737837 (1)
    colon adenocarcinoma 65.3 10 1707385 (3), 9683274 (1), 8948431 (1), 9209707 (1) (see all 7)
    viral leukemia 55.3 4 1783381 (1), 10449917 (1)
    diarrhea chronic 53.2 2 12519224 (2)
    colon carcinoma 51.3 8 1696400 (1), 1764023 (1), 8670122 (1), 1707385 (1) (see all 5)
    enzyme deficiency 48.9 1 12394387 (1)
    malabsorption 44.5 3 8169404 (1), 16329100 (1), 16543230 (1)
    metaplasia 42.5 6 8359653 (2), 11871772 (1), 11413113 (1), 12866578 (1)
    bowel disease 40.5 6 19121318 (1)

    Genatlas disease: SI
    disaccharide intolerance


    Export disorders for SI gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SI gene, integrated from 9 sources (see all 352):
    (articles sorted by number of sources associating them with SI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase. (PubMed id 1353958)1, 2, 3, 9 Chantret I.... Rousset M. (1992)
    2. Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3. (PubMed id 2962903)1, 2, 3 Green F....Swallow D. (1987)
    3. 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. (PubMed id 8609217)1, 2, 9 Ouwendijk J.... Naim H.Y. (1996)
    4. Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. (PubMed id 11340066)1, 2, 9 Spodsberg N.... Naim H.Y. (2001)
    5. Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. (PubMed id 14724820)1, 2, 9 Ritz V.... Naim H.Y. (2003)
    6. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. (PubMed id 16329100)1, 2, 9 Sander P.... Naim H.Y. (2006)
    7. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. (PubMed id 10903344)1, 2, 9 Jacob R.... Naim H.Y. (2000)
    8. Phosphorylation of the N-terminal intracellular tail of sucrase-isomaltase by cAMP-dependent protein kinase. (PubMed id 8521865)1, 2, 9 Keller P....Shaltiel S. (1995)
    9. Expression of sucrase-isomaltase and dipeptidylpeptidase IV in human small intestine and colon. (PubMed id 1677636)1, 2, 9 Gorvel J.P....Maroux S. (1991)
    10. Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. (PubMed id 19121318)1, 9 Alfalah M....Naim H.Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6476 HGNC: 10856 AceView: SI Ensembl:ENSG00000090402 euGenes: HUgn6476
    ECgene: SI Kegg: 6476 H-InvDB: SI

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SI Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SI gene:
    Search GeneIP for patents involving SI

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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