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SI sucrase-isomaltase (alpha-glucosidase) [ Homo sapiens (human) ]

Gene ID: 6476, updated on 21-Jun-2014
Official Symbol
SIprovided by HGNC
Official Full Name
sucrase-isomaltase (alpha-glucosidase)provided by HGNC
Primary source
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]
Location:
3q25.2-q26.2
Exon count :
48
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC102724419 Neighboring gene microRNA 1263 Neighboring gene uncharacterized LOC101928405 Neighboring gene SLIT and NTRK-like family, member 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
    Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
  • Carbohydrate digestion and absorption, conserved biosystem (from KEGG)
    Carbohydrate digestion and absorption, conserved biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
  • Digestion of dietary carbohydrate, organism-specific biosystem (from REACTOME)
    Digestion of dietary carbohydrate, organism-specific biosystemCarbohydrate is a major component of the human diet, and includes starch (amylose and amylopectin) and disaccharides such as sucrose, lactose, maltose and, in small amounts, trehalose. The digestion ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Galactose metabolism, organism-specific biosystem (from KEGG)
    Galactose metabolism, organism-specific biosystem
    Galactose metabolism
  • Galactose metabolism, conserved biosystem (from KEGG)
    Galactose metabolism, conserved biosystem
    Galactose metabolism
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism
  • sucrose degradation V (mammalian), organism-specific biosystem (from BIOCYC)
    sucrose degradation V (mammalian), organism-specific biosystemSucrose (table sugar) is an important dietary nutrient both as an energy storage molecule and by providing an aesthetic component to food, sweetness. Sucrose is widely produced by plants and when ing...
  • sucrose degradation V (sucrose alpha-glucosidase), conserved biosystem (from BIOCYC)
    sucrose degradation V (sucrose alpha-glucosidase), conserved biosystemSucrose (table sugar) is an important dietary nutrient both as an energy storage molecule and by providing an aesthetic component to food, sweetness. Sucrose is widely produced by plants and when ing...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-glucosidase activity TAS
Traceable Author Statement
more info
 
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 TAS
Traceable Author Statement
more info
 
polysaccharide digestion TAS
Traceable Author Statement
more info
 
small molecule metabolic process 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 
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
sucrase-isomaltase, intestinal
oligosaccharide alpha-1,6-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 

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

mRNA and Protein(s)

  1. NM_001041.3NP_001032.2  sucrase-isomaltase, intestinal

    See proteins identical to 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
    cd06602
    Location:343728
    Blast Score: 1500
    GH31_MGAM_SI_GAA; This family includes the following three closely related glycosyl hydrolase family 31 (GH31) enzymes: maltase-glucoamylase (MGAM), sucrase-isomaltase (SI), and lysosomal acid alpha-glucosidase (GAA), also known as acid-maltase. MGAM is one of the two ...
    cd00111
    Location:68110
    Blast Score: 148
    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
    Blast Score: 1446
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam13802
    Location:11091170
    Blast Score: 92
    Gal_mutarotas_2; Galactose mutarotase-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    162066552..162166109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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

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