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SI (sucrase-isomaltase)

Identity

Alias_namessucrase-isomaltase (alpha-glucosidase)
Other alias-
HGNC (Hugo) SI
LocusID (NCBI) 6476
Atlas_Id 53724
Location 3q26.1  [Link to chromosome band 3q26]
Location_base_pair Starts at 164978898 and ends at 165078495 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP11B (3q26.33) / SI (3q26.1)SI (3q26.1) / IFIH1 (2q24.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SI   10856
Cards
Entrez_Gene (NCBI)SI  6476  sucrase-isomaltase
Aliases
GeneCards (Weizmann)SI
Ensembl hg19 (Hinxton)ENSG00000090402 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000090402 [Gene_View]  chr3:164978898-165078495 [Contig_View]  SI [Vega]
ICGC DataPortalENSG00000090402
TCGA cBioPortalSI
AceView (NCBI)SI
Genatlas (Paris)SI
WikiGenes6476
SOURCE (Princeton)SI
Genetics Home Reference (NIH)SI
Genomic and cartography
GoldenPath hg38 (UCSC)SI  -     chr3:164978898-165078495 -  3q26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SI  -     3q26.1   [Description]    (hg19-Feb_2009)
EnsemblSI - 3q26.1 [CytoView hg19]  SI - 3q26.1 [CytoView hg38]
Mapping of homologs : NCBISI [Mapview hg19]  SI [Mapview hg38]
OMIM222900   609845   
Gene and transcription
Genbank (Entrez)AA376756 BC115033 BC115034 BC116452 BC116453
RefSeq transcript (Entrez)NM_001041
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SI
Cluster EST : UnigeneHs.429596 [ NCBI ]
CGAP (NCI)Hs.429596
Alternative Splicing GalleryENSG00000090402
Gene ExpressionSI [ NCBI-GEO ]   SI [ EBI - ARRAY_EXPRESS ]   SI [ SEEK ]   SI [ MEM ]
Gene Expression Viewer (FireBrowse)SI [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6476
GTEX Portal (Tissue expression)SI
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14410   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14410  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14410
Splice isoforms : SwissVarP14410
Catalytic activity : Enzyme3.2.1.48 [ Enzyme-Expasy ]   3.2.1.483.2.1.48 [ IntEnz-EBI ]   3.2.1.48 [ BRENDA ]   3.2.1.48 [ KEGG ]   
PhosPhoSitePlusP14410
Domaine pattern : Prosite (Expaxy)GLYCOSYL_HYDROL_F31_1 (PS00129)    GLYCOSYL_HYDROL_F31_2 (PS00707)    P_TREFOIL_1 (PS00025)    P_TREFOIL_2 (PS51448)   
Domains : Interpro (EBI)Gal_mutarotase_N    Gal_mutarotase_SF_dom    Glyco_hydro_31    Glyco_hydro_31_AS    Glyco_hydro_31_CS    Glycoside_hydrolase_SF    P_trefoil_CS    P_trefoil_dom   
Domain families : Pfam (Sanger)Glyco_hydro_31 (PF01055)    NtCtMGAM_N (PF16863)    Trefoil (PF00088)   
Domain families : Pfam (NCBI)pfam01055    pfam16863    pfam00088   
Domain families : Smart (EMBL)PD (SM00018)  
Conserved Domain (NCBI)SI
DMDM Disease mutations6476
Blocks (Seattle)SI
PDB (SRS)3LPO    3LPP   
PDB (PDBSum)3LPO    3LPP   
PDB (IMB)3LPO    3LPP   
PDB (RSDB)3LPO    3LPP   
Structural Biology KnowledgeBase3LPO    3LPP   
SCOP (Structural Classification of Proteins)3LPO    3LPP   
CATH (Classification of proteins structures)3LPO    3LPP   
SuperfamilyP14410
Human Protein AtlasENSG00000090402
Peptide AtlasP14410
HPRD01962
IPIIPI00221101   IPI00947019   
Protein Interaction databases
DIP (DOE-UCLA)P14410
IntAct (EBI)P14410
FunCoupENSG00000090402
BioGRIDSI
STRING (EMBL)SI
ZODIACSI
Ontologies - Pathways
QuickGOP14410
Ontology : AmiGOalpha-1,4-glucosidase activity  oligo-1,6-glucosidase activity  sucrose alpha-glucosidase activity  Golgi apparatus  plasma membrane  brush border  carbohydrate metabolic process  integral component of membrane  apical plasma membrane  carbohydrate binding  polysaccharide digestion  extracellular exosome  
Ontology : EGO-EBIalpha-1,4-glucosidase activity  oligo-1,6-glucosidase activity  sucrose alpha-glucosidase activity  Golgi apparatus  plasma membrane  brush border  carbohydrate metabolic process  integral component of membrane  apical plasma membrane  carbohydrate binding  polysaccharide digestion  extracellular exosome  
Pathways : KEGGGalactose metabolism    Starch and sucrose metabolism    Carbohydrate digestion and absorption   
NDEx NetworkSI
Atlas of Cancer Signalling NetworkSI
Wikipedia pathwaysSI
Orthology - Evolution
OrthoDB6476
GeneTree (enSembl)ENSG00000090402
Phylogenetic Trees/Animal Genes : TreeFamSI
HOVERGENP14410
HOGENOMP14410
Homologs : HomoloGeneSI
Homology/Alignments : Family Browser (UCSC)SI
Gene fusions - Rearrangements
Fusion : MitelmanATP11B/SI [3q26.33/3q26.1]  [t(3;3)(q26;q26)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSI [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SI
dbVarSI
ClinVarSI
1000_GenomesSI 
Exome Variant ServerSI
ExAC (Exome Aggregation Consortium)SI (select the gene name)
Genetic variants : HAPMAP6476
Genomic Variants (DGV)SI [DGVbeta]
DECIPHERSI [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSI 
Mutations
ICGC Data PortalSI 
TCGA Data PortalSI 
Broad Tumor PortalSI
OASIS PortalSI [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSI  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSI
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SI
DgiDB (Drug Gene Interaction Database)SI
DoCM (Curated mutations)SI (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SI (select a term)
intoGenSI
Cancer3DSI(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM222900    609845   
Orphanet21213    21215    21214    21216    21217   
MedgenSI
Genetic Testing Registry SI
NextProtP14410 [Medical]
TSGene6476
GENETestsSI
Target ValidationSI
Huge Navigator SI [HugePedia]
snp3D : Map Gene to Disease6476
BioCentury BCIQSI
ClinGenSI
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6476
Chemical/Pharm GKB GenePA35758
Clinical trialSI
Miscellaneous
canSAR (ICR)SI (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSI
EVEXSI
GoPubMedSI
iHOPSI
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:14:28 CEST 2017

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