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SI sucrase-isomaltase [ Homo sapiens (human) ]

Gene ID: 6476, updated on 26-May-2016
Official Symbol
SIprovided by HGNC
Official Full Name
sucrase-isomaltaseprovided by HGNC
Primary source
HGNC:HGNC:10856
See related
Ensembl:ENSG00000090402 HPRD:01962; MIM:609845; Vega:OTTHUMG00000158065
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]
Orthologs
Location:
3q25.2-q26.2
Exon count:
48
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (164978893..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 uncharacterized LOC105374191 Neighboring gene long intergenic non-protein coding RNA 1324 Neighboring gene uncharacterized LOC105374192 Neighboring gene uncharacterized LOC101928405 Neighboring gene SLIT and NTRK like family member 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC131621, MGC131622

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,4-glucosidase activity EXP
Inferred from Experiment
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
sucrase-isomaltase, intestinal
Names
alpha-glucosidase
oligosaccharide alpha-1,6-glucosidase
sucrase-isomaltase (alpha-glucosidase)
NP_001032.2

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_001041.3NP_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, OTTHUMP00000212594, ENST00000264382, OTTHUMT00000350116
    Conserved Domains (4) summary
    cd00111
    Location:68110
    Trefoil; P or trefoil or TFF domain; Trefoil factor family domain peptides are mucin-associated molecules, largely found in epithelia of gastrointestinal tissues. Function is not known but it was originally identified from mucosal tissues, where it may have a ...
    pfam01055
    Location:11951691
    Glyco_hydro_31; Glycosyl hydrolases family 31
    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)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    164978893..165078495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513078.1XP_011511380.1  

    Conserved Domains (4) summary
    cd00111
    Location:3577
    Trefoil; P or trefoil or TFF domain; Trefoil factor family domain peptides are mucin-associated molecules, largely found in epithelia of gastrointestinal tissues. Function is not known but it was originally identified from mucosal tissues, where it may have a ...
    pfam01055
    Location:11621658
    Glyco_hydro_31; Glycosyl hydrolases family 31
    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)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    164659546..164759127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)