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

SI Gene

protein-coding   GIFtS: 59
GCID: GC03M164696

sucrase-isomaltase (alpha-glucosidase)

(Previous name: sucrase-isomaltase )
 Explore 43 diseases affiliated with
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Biological research products
for SI    

Aliases
for SI gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sucrase-Isomaltase (Alpha-Glucosidase)1 2
Sucrase-Isomaltase1
Oligosaccharide Alpha-1,6-Glucosidase2
Sucrase-Isomaltase, Intestinal2
EC 3.2.1.208

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


Summaries
for SI gene

(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:
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)

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




Genomic Views
for SI gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  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 plasmid: SI 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

Proteins
for SI gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • The precursor is proteolytically cleaved when exposed to pancreatic proteases in the intestinal lumen1
  • Sulfated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P14410

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

    SI Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001032.2  
    ENSEMBL proteins: 
     ENSP00000264382   ENSP00000419450  
    Reactome Protein details: P14410
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    Uscn Proteins for SI

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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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    Protein Domains /
    Families
    for SI gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SI for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for SI gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: SI 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004558alpha-glucosidase activity TAS--
    GO:0004564beta-fructofuranosidase activity ----
    GO:0004574oligo-1,6-glucosidase activity IEA--
    GO:0004575sucrose alpha-glucosidase activity TAS--


    SI for ontologies           About GeneDecksing



    Pathways & Interactions
    for SI gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    2Digestion of dietary carbohydrate
    		Digestion of dietary carbohydrate1.00
    3Carbohydrate digestion and absorption
    		Carbohydrate digestion and absorption1.00
    4MPS IIIC - Sanfilippo syndrome C
    		Metabolism of carbohydrates0.47
    5Glucuronidation
    		Starch and sucrose metabolism0.42

    Pathway sources
    See GeneCards unified pathways
    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


    3         Kegg Pathways  (Kegg details for SI):
        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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007568aging ----
    GO:0007584response to nutrient ----
    GO:0009744response to sucrose stimulus ----
    GO:0009750response to fructose stimulus ----


    SI for ontologies           About GeneDecksing



    Drugs & Compounds
    for SI gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for SI gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    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
    SwitchGear 3'UTR luciferase reporter plasmid: SI 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 AA376756 AA376861 NM_001041 AA376780 BX279613 M22616 AW182469 
    BP383061 BF002446 T29683 BX484233 AL705739 AU100472 BG187733 AU076868 
    BP383236 BG211440 BG207821 AW951436 AA376948 BQ318606 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

    Expression
    for SI gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATGTAAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    for SI gene

    (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 eukaryotes.

    Orthologs for SI gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 61(a)
    		 1 ↔ 1
    		 3(10892080-10917136)
    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 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 21(a)
    		 possible ortholog
    		 GroupUn.6815(10-1068)
    worm
    (Caenorhabditis elegans)    		 Secernentea D2096.33   -- 38(a)
    (best of 3)    		   IV(8363651-8375533)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G459406
    AT5G117206
    (see all 4)    		 alpha-glucosidase
    (see all 4)    		 29(a)
    29(a)
    (see all 4)    		 possible ortholog
    possible ortholog
    (see all 4)    		 3(16886226-16889171)
    5(3776814-3780146)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 5)    		 glycosyl hydrolase, family 31, putative, expressed...
    glycosyl hydrolase, family 31, putative, expressed...
    (see all 5)    		 32(a)
    31(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 6(28099803-28105085)
    6(28044149-28057084)


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

    Paralogs
    for SI gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SI gene
    MGAM2  GAA2  GANC2  GANAB2  LOC934322  
    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


    Genomic Variants
    for SI gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1915 NCBI SNPs in SI are shown (see all 1915)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219126151,2
    		C,F,pathogenic220723467(-) AAAAGT/GTTTTC 2 /G /V mis12Minor allele frequency- G:0.00NA EU 5639
    rs1219126161,2
    		C,Fpathogenic220749195(-) TTTTGG/ACATCC 2 /D /G mis12Minor allele frequency- A:0.00NA EU 5853
    rs797171681,2
    		C,F,pathogenic220787391(-) ACAATA/C/G/T 
                TAATT     		4 Y S C F mis13NA EU 5193
    rs787071281,2
    		F,--162066505(+) TGCAAG/ACTAAG 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1113003321,2
    		--162066590(+) AAATGC/TACATA 1 -- ut312Minor allele frequency- T:0.15CSA WA 120
    rs747748581,2
    		C,--162067161(+) AAAAAA/TGTTTT 1 -- int12Minor allele frequency- T:0.16CSA WA 120
    rs119182071,2
    		C,H,--162067361(+) GATTTT/CTATGA 1 -- int12Minor allele frequency- C:0.25NA CSA 4
    rs119182341,2
    		C,F,H,--162067417(+) TGCACC/TGCATG 1 -- int12Minor allele frequency- T:0.50NA CSA 6
    rs99176791,2
    		C,F,--162067593(+) GTAGAC/TTCTAG 1 -- int13Minor allele frequency- T:0.15CSA WA 122
    rs67671621,2
    		C,F,A,--162067754(+) AAGTTT/CGGATT 1 -- int13Minor allele frequency- C:0.16CSA WA 122

    HapMap Linkage Disequilibrium report for SI (164696686 - 164796283 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SI
         1 CNV: 98516
    Human Gene Mutation Database (HGMD): SI

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SI
    DNA2.0 Custom Variant and Variant Library Synthesis for SI

    Disorders / Diseases
    for SI gene

    (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.)
    About This Section
    SI for disorders           About GeneDecksing

    OMIM gene information: 609845   
    OMIM disorders: 222900  
    UniProtKB/Swiss-Prot: SUIS_HUMAN, P14410
  • Defects in SI are the cause of congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]; also known as
    • disaccharide intolerance I. CSID is an 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

    20/43 diseases for SI (see all 43):    About MalaCards
    sucrase-isomaltase deficiency    congenital sucrase-isomaltase deficiency    protein-energy malnutrition    glycogen storage disease
    glycogen storage disease ii    microvillus inclusion disease    lactose intolerance    barrett's esophagus
    pancreatitis    colonic polyps    intestinal atresia    hypolactasia
    short bowel syndrome    cystic fibrosis    giardiasis    diabetes mellitus
    nephrocalcinosis    esophagus adenocarcinoma    barrett's adenocarcinoma    ulcerative colitis

    10/40 Novoseek 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

    Publications
    for SI gene

    (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 351):
    (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)

    External Searches for SI gene

    (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)

    Genome Databases showing SI gene

    (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

    Other Databases showing SI gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SI gene

    (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

    Intellectual Property
    for SI gene

    (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



    Products
    for SI gene

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    About This Section

     
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