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    SI sucrase-isomaltase [ Homo sapiens (human) ]

    Gene ID: 6476, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SIprovided by HGNC
    Official Full Name
    sucrase-isomaltaseprovided by HGNC
    Primary source
    HGNC:HGNC:10856
    See related
    Ensembl:ENSG00000090402 MIM:609845; AllianceGenome:HGNC:10856
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in duodenum (RPKM 299.9), small intestine (RPKM 254.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q26.1
    Exon count:
    50
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (164978898..165090232, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (167761814..167873135, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (164696686..164796284, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr3:164448481-164448982 Neighboring gene long intergenic non-protein coding RNA 1324 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:164582212-164582862 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:164607970-164608470 Neighboring gene uncharacterized LOC107986050 Neighboring gene uncharacterized LOC105374192 Neighboring gene long intergenic non-protein coding RNA 2023 Neighboring gene SLIT and NTRK like family member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention. Moolenaar CE, et al. J Cell Sci, 1997 Mar. PMID 9092938
    2. Determination of the transient period of the EIS complex and investigation of the suppression of blood glucose levels by L-arabinose in healthy adults. Shibanuma K, et al. Eur J Nutr, 2011 Sep. PMID 21165628
    3. Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. Alfalah M, et al. Gastroenterology, 2009 Mar. PMID 19121318
    4. Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations. İryancı Fİ, et al. Turk J Gastroenterol, 2024 Apr. PMID 39128102, Free PMC Article
    5. Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency. Keiser M, et al. J Biol Chem, 2006 May 19. PMID 16543230

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.
      Title: Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.
    2. Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients.
      Title: Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients.
    3. Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.
      Title: Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.
    4. Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank.
      Title: Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank.
    5. The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency.
      Title: The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency.
    6. Through a 2-step computational and experimental strategy, the present study found increased prevalence new dysfunctional SI variants associated with irritable bowel syndrome.
      Title: Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.
    7. Three biosynthetic phenotypes for the novel SI mutations were identified. The first biosynthetic phenotype was defined by mutants that are intracellularly transported in a fashion similar to wild type SI and with normal, but varying, levels of enzymatic activity. The second biosynthetic phenotype was defined by mutants with delayed maturation and trafficking kinetics and reduced activity. The third is inactive.
      Title: Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.
    8. Novel compound heterozygote V577G/C1531W SI mutations, which lead to lack of SI expression in the duodenal brush border, were found in a family with congenital sucrase-isomaltase deficiency.
      Title: Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
    9. A common mutation was found in the sucrase-isomaltase gene, c.273_274delAG, to be responsible for the high prevalence of congenital sucrase-isomaltase deficiency among Inuit people.
      Title: Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
    10. SI mutations result in loss of enzyme function by preventing the biosynthesis of catalytically competent SI at the cell surface in lymphocytic leukemia
      Title: Functional analysis of sucrase-isomaltase mutations from chronic lymphocytic leukemia patients.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Sucrase-isomaltase deficiency
    MedGen: C1283620 OMIM: 222900 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131621, MGC131622

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-1,4-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oligo-1,6-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sucrose alpha-glucosidase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in polysaccharide digestion TAS
    Traceable Author Statement
    more info
    		  
    involved_in sucrose catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in brush border TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sucrase-isomaltase, intestinal
    Names
    Alpha-methylglucosidase
    Oligo-1,6-glucosidase
    alpha-glucosidase
    oligosaccharide alpha-1,6-glucosidase
    NP_001032.2
    XP_011511380.1
    XP_047304691.1
    XP_047304692.1
    XP_054203545.1
    XP_054203546.1
    XP_054203548.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017043.1 RefSeqGene

      Range
      5000..104598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001041.4 → NP_001032.2  sucrase-isomaltase, intestinal

      See identical proteins and their annotated locations for NP_001032.2

      Status: REVIEWED

      Source sequence(s)
      AC092695, AC140119, BC132860, BG187733, DA919374
      Consensus CDS
      CCDS3196.1
      UniProtKB/Swiss-Prot
      A2RUC3, P14410, Q1JQ80, Q1RMC2
      Related
      ENSP00000264382.3, ENST00000264382.8
      Conserved Domains (5) summary
      smart00018
      Location:70 → 112
      PD; P or trefoil or TFF domain
      cd06602
      Location:343 → 707
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:1100 → 1214
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:324 → 797
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:125 → 234
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      164978898..165090232 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448735.1 → XP_047304691.1  sucrase-isomaltase, intestinal isoform X1

      UniProtKB/Swiss-Prot
      A2RUC3, P14410, Q1JQ80, Q1RMC2

    2. XM_047448736.1 → XP_047304692.1  sucrase-isomaltase, intestinal isoform X1

      UniProtKB/Swiss-Prot
      A2RUC3, P14410, Q1JQ80, Q1RMC2

    3. XM_011513078.3 → XP_011511380.1  sucrase-isomaltase, intestinal isoform X2

      Conserved Domains (5) summary
      smart00018
      Location:37 → 79
      PD; P or trefoil or TFF domain
      cd06602
      Location:310 → 674
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:1067 → 1181
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:291 → 764
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:92 → 201
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      167761814..167873135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347570.1 → XP_054203545.1  sucrase-isomaltase, intestinal isoform X1

    2. XM_054347571.1 → XP_054203546.1  sucrase-isomaltase, intestinal isoform X1

    3. XM_054347573.1 → XP_054203548.1  sucrase-isomaltase, intestinal isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14410.6 GenPept UniProtKB/Swiss-Prot:P14410

    Gene LinkOut

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