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SI sucrase-isomaltase [ Homo sapiens (human) ]

Gene ID: 6476, updated on 15-Apr-2019

Summary

Official Symbol
SIprovided by HGNC
Official Full Name
sucrase-isomaltaseprovided by HGNC
Primary source
HGNC:HGNC:10856
See related
Ensembl:ENSG00000090402 MIM:609845
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

Genomic context

Location:
3q26.1
Exon count:
48
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (164978898..165078495, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (164696686..164796283, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1324 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

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131621, MGC131622

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
oligo-1,6-glucosidase activity IEA
Inferred from Electronic Annotation
more info
 
sucrose alpha-glucosidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
polysaccharide digestion TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
brush border TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..104598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001041.4NP_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
    P14410
    Related
    ENSP00000264382.3, ENST00000264382.8
    Conserved Domains (5) summary
    smart00018
    Location:70112
    PD; P or trefoil or TFF domain
    cd06602
    Location:343707
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:11001214
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:324797
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:125234
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    164978898..165078495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513078.2XP_011511380.1  sucrase-isomaltase, intestinal isoform X1

    Conserved Domains (5) summary
    smart00018
    Location:3779
    PD; P or trefoil or TFF domain
    cd06602
    Location:310674
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:10671181
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:291764
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:92201
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
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