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SI Gene

protein-coding   GIFtS: 62
GCID: GC03M164696

Sucrase-Isomaltase (Alpha-Glucosidase)

(Previous name: sucrase-isomaltase)
  See SI-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 with starch and lactose intolerance, and congenital sucrase-isomaltase deficiency without starch intolerance. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   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 Chromatin IP Primers for SI

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • The precursor is proteolytically cleaved when exposed to pancreatic proteases in the intestinal lumen1
  • Sulfated (By similarity)1
  • Glycosylation2 at Asn99, Asn437, Asn455, Asn823, Asn855, Asn904, Asn926, Asn1235, Asn1303, Asn1340,
                                 Asn1354, Asn1403, Asn1535, Asn1572, Asn1675, Asn1748, Asn1763, Asn1815
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for SI (P14410)
     GADICGF  HGVFLLNSN 


    See SI Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001032.2  
    ENSEMBL proteins: 
     ENSP00000264382   ENSP00000419450  
    Reactome Protein details: P14410

    SI Human Recombinant Protein Products:

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

    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


    Find genes that share domains with SI           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with SI           About GenesLikeMe


    Animal Models:
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    hsa-mir-26b-5p (MIRT030316)

    Block miRNA regulation of human, mouse, rat SI using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SI (see all 15):
    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
    SwitchGear 3'UTR luciferase reporter plasmidSI 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SUIS_HUMAN, P14410: Apical cell membrane; Single-pass type II membrane protein. Note=Brush border
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus4
    endoplasmic reticulum2
    extracellular2
    cytoskeleton1
    endosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (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 component of membrane IEA--

    Find genes that share ontologies with SI           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SI About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    3Galactose metabolism
    Galactose metabolism0.44
    4Glucuronidation
    Starch and sucrose metabolism0.41
    5sucrose degradation V (mammalian)
    sucrose degradation V (mammalian)


    Find genes that share SuperPaths with SI           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SI
        sucrose degradation V (mammalian)

    1 Reactome Pathway for SI
        Digestion of dietary carbohydrate


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SI
    Interactions:

        GeneGlobe Interaction Network for SI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for SI (P144103 ENSP000002643824) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    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:    About this table

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

    Find genes that share ontologies with SI           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)



    Find genes that share compounds with SI           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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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 NM_001041 AA376756 BX279613 AA376861 AA376780 T29683 M22616 
    BF002446 AW182469 BP383061 AL705739 BX484233 AU100472 BG211440 BG207821 
    BG187733 AU076868 BP383236 AA376948 BQ318606 AW951436 BG218467 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGTAAATA
    SI Expression
    About this image

    SI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SI Protein Expression

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SI

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SI gene from Selected species (see all 13)    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 79.88(n)1
    78.21(a)1
      3 (32.59 cM)5
    699831  NM_001081137.11  NP_001074606.11 
     728885575 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    48(a)
    39(a)
    many ↔ many
    many ↔ many
    1(15235835-15281162)
    JH375607.1(9153-27107)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    50(a)
    44(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    5(98885648-98968757)
    3(10892267-10917136)
    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)   --


    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)
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    Paralogs for SI gene
    GAA2  MGAM2  GANC2  GANAB2  LOC934322  
    2 SIMAP similar genes for SI using alignment to 2 protein entries:     SUIS_HUMAN (see all proteins):
    MGAM    GAA

    Find genes that share paralogs with SI           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SI (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
    ----------
    rs797171681,2,,4
    C,FCongenital sucrase-isomaltase deficiency (CSID)4 pathogenic1164563847(-) ACAATT/GTAATT 2 /C /F mis13Minor allele frequency- G:0.00NA EU 5193
    rs1219126151,2,,4
    C,FCongenital sucrase-isomaltase deficiency (CSID)4 pathogenic1164627827(-) AAAAGT/GTTTTC 2 /G /V mis12Minor allele frequency- G:0.00NA EU 5639
    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--------

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SI
    DNA2.0 Custom Variant and Variant Library Synthesis for SI

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 8 diseases for SI:    
    About MalaCards
    congenital sucrase-isomaltase deficiency with starch and lactose intolerance    congenital sucrase-isomaltase deficiency without starch intolerance    congenital sucrase-isomaltase deficiency    congenital sucrase-isomaltase deficiency with starch intolerance
    congenital sucrase-isomaltase deficiency with minimal starch tolerance    congenital sucrase-isomaltase deficiency without sucrose intolerance    microvillus inclusion disease    intestinal atresia

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

    Find genes that share disorders with SI           About GenesLikeMe

    Selected 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)
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    PubMed articles for SI gene, integrated from 10 sources (see all 353):
    (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. (Biochem. J. 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. (Gene 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. (J. Clin. Invest. 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. (J. Biol. Chem. 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. (Gastroenterology 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. (Hum. Mutat. 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. (J. Clin. Invest. 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. (Eur. J. Biochem. 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. (Gastroenterology 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. (Gastroenterology 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6476 HGNC: 10856 AceView: SI Ensembl:ENSG00000090402 euGenes: HUgn6476
    ECgene: SI Kegg: 6476 H-InvDB: SI

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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