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Aliases for MGAM Gene

Aliases for MGAM Gene

  • Maltase-Glucoamylase 2 3 5
  • MGA 3 4
  • Maltase-Glucoamylase (Alpha-Glucosidase) 3
  • Brush Border Hydrolase 3
  • Alpha-Glucosidase 2
  • EC 3.2.1.20 63
  • MGAML 4
  • MG 3

External Ids for MGAM Gene

Previous GeneCards Identifiers for MGAM Gene

  • GC07P139967
  • GC07P140976
  • GC07P141102
  • GC07P141148
  • GC07P141342
  • GC07P141607
  • GC07P135992
  • GC07P142618
  • GC07P142931

Summaries for MGAM Gene

Entrez Gene Summary for MGAM Gene

  • This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]

GeneCards Summary for MGAM Gene

MGAM (Maltase-Glucoamylase) is a Protein Coding gene. Diseases associated with MGAM include Intestinal Disaccharidase Deficiency and Diarrhea. Among its related pathways are Glycosaminoglycan metabolism and Galactose metabolism. GO annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity. An important paralog of this gene is GANAB.

UniProtKB/Swiss-Prot for MGAM Gene

  • May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing.

Gene Wiki entry for MGAM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MGAM Gene

Genomics for MGAM Gene

Regulatory Elements for MGAM Gene

Enhancers for MGAM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MGAM on UCSC Golden Path with GeneCards custom track

Genomic Location for MGAM Gene

Chromosome:
7
Start:
141,907,813 bp from pter
End:
142,106,747 bp from pter
Size:
198,935 bases
Orientation:
Plus strand

Genomic View for MGAM Gene

Genes around MGAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGAM Gene

Proteins for MGAM Gene

  • Protein details for MGAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43451-MGA_HUMAN
    Recommended name:
    Maltase-glucoamylase, intestinal
    Protein Accession:
    O43451
    Secondary Accessions:
    • Q0VAX6
    • Q75ME7
    • Q86UM5

    Protein attributes for MGAM Gene

    Size:
    1857 amino acids
    Molecular mass:
    209852 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for MGAM Gene

neXtProt entry for MGAM Gene

Proteomics data for MGAM Gene at MOPED

Selected DME Specific Peptides for MGAM Gene

Post-translational modifications for MGAM Gene

  • Does not undergo intracellular or extracellular proteolytic cleavage.
  • N- and O-glycosylated.
  • Sulfated.
  • Glycosylation at Asn 135, Asn 295, Asn 457, Asn 458, Asn 479, Asn 707, Asn 749, Asn 827, Asn 885, Asn 912, Asn 977, Asn 989, Asn 1255, Asn 1323, Asn 1364, Asn 1388, Asn 1603, Asn 1672, Asn 1842, and Asn 1847
  • Modification sites at PhosphoSitePlus

Other Protein References for MGAM Gene

Domains & Families for MGAM Gene

Suggested Antigen Peptide Sequences for MGAM Gene

Graphical View of Domain Structure for InterPro Entry

O43451

UniProtKB/Swiss-Prot:

MGA_HUMAN :
  • Contains 2 P-type (trefoil) domains.
  • Belongs to the glycosyl hydrolase 31 family.
Domain:
  • Contains 2 P-type (trefoil) domains.
Family:
  • Belongs to the glycosyl hydrolase 31 family.
genes like me logo Genes that share domains with MGAM: view

No data available for Gene Families for MGAM Gene

Function for MGAM Gene

Molecular function for MGAM Gene

GENATLAS Biochemistry:
maltase-glucoamylase,alpha-glucosidase,expressed in the small intestine,member of the glucosyl hydrolase family 31,playing a unique role in the digestion of malted dietary oligosaccharides
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose.
UniProtKB/Swiss-Prot Function:
May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing.

Enzyme Numbers (IUBMB) for MGAM Gene

Gene Ontology (GO) - Molecular Function for MGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004339 glucan 1,4-alpha-glucosidase activity IEA --
genes like me logo Genes that share ontologies with MGAM: view
genes like me logo Genes that share phenotypes with MGAM: view

Animal Models for MGAM Gene

MGI Knock Outs for MGAM:

Animal Model Products

  • Taconic Biosciences Mouse Models for MGAM

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MGAM Gene

Localization for MGAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAM Gene

Apical cell membrane; Single-pass type II membrane protein. Note=Brush border.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MGAM Gene COMPARTMENTS Subcellular localization image for MGAM gene
Compartment Confidence
extracellular 5
plasma membrane 5
chloroplast 3
cytosol 3
endoplasmic reticulum 3
mitochondrion 3
cytoskeleton 2
golgi apparatus 2
lysosome 2
nucleus 2
vacuole 2
endosome 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for MGAM Gene

Pathways & Interactions for MGAM Gene

genes like me logo Genes that share pathways with MGAM: view

Gene Ontology (GO) - Biological Process for MGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044245 polysaccharide digestion TAS --
genes like me logo Genes that share ontologies with MGAM: view

No data available for SIGNOR curated interactions for MGAM Gene

Drugs & Compounds for MGAM Gene

(27) Drugs for MGAM Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma inhibitor, Target Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 81
Miglitol Approved Pharma inhibitor, Target, antagonist 12
Voglibose Approved, Investigational Pharma inhibitor, Target α-glucosidases inhibitor 23
maltose Experimental Pharma 0
Sucrose Experimental Pharma 0

(49) Additional Compounds for MGAM Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
Dextrin
  • British gum
  • Caloreen
  • Corn dextrin
  • Crystal gum
  • Dextrid
9004-53-9
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
D-Galactose
  • (+)-Galactose
  • 5abp
  • 8abp
  • alpha D-Galactose
  • alpha-D-Galactopyranose
59-23-4
genes like me logo Genes that share compounds with MGAM: view

Transcripts for MGAM Gene

Unigene Clusters for MGAM Gene

Maltase-glucoamylase (alpha-glucosidase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MGAM Gene

No ASD Table

Relevant External Links for MGAM Gene

GeneLoc Exon Structure for
MGAM
ECgene alternative splicing isoforms for
MGAM

Expression for MGAM Gene

mRNA expression in normal human tissues for MGAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MGAM Gene

This gene is overexpressed in Whole Blood (x36.5) and Small Intestine - Terminal Ileum (x8.8).

Protein differential expression in normal tissues from HIPED for MGAM Gene

This gene is overexpressed in Pancreatic juice (45.3), Urine (11.6), and Neutrophil (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MGAM Gene



SOURCE GeneReport for Unigene cluster for MGAM Gene Hs.122785

mRNA Expression by UniProt/SwissProt for MGAM Gene

O43451-MGA_HUMAN
Tissue specificity: Expressed in small intestine, granulocyte, and kidney but not in salivary gland or pancreas.
genes like me logo Genes that share expression patterns with MGAM: view

Primer Products

No data available for Protein tissue co-expression partners for MGAM Gene

Orthologs for MGAM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MGAM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MGAM 35
  • 86.93 (n)
  • 85.94 (a)
MGAM 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MGAM 35
  • 87.44 (n)
  • 87.06 (a)
MGAM 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mgam 35
  • 81.92 (n)
  • 80.3 (a)
Mgam 16
Mgam 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC679818 35
  • 81.47 (n)
  • 80.27 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
-- 36
  • 68 (a)
ManyToMany
-- 36
  • 77 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia MGAM 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SI 35
  • 65.31 (n)
  • 64.11 (a)
-- 36
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mgam 35
  • 63.73 (n)
  • 62.25 (a)
zebrafish
(Danio rerio)
Actinopterygii si 35
  • 61.14 (n)
  • 58.71 (a)
CABZ01079192.1 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2096.3 37
  • 39 (a)
F53F4.8 37
  • 36 (a)
R05F9.12 37
  • 38 (a)
aagr-2 35
  • 50.99 (n)
  • 45.83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROT2 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11720 35
  • 48.78 (n)
  • 41.35 (a)
rice
(Oryza sativa)
Liliopsida Os.19761 35
Os06g0676700 35
  • 47.95 (n)
  • 40.73 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1518 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04674 35
  • 47.44 (n)
  • 38.21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
OneToMany
Species with no ortholog for MGAM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MGAM Gene

ENSEMBL:
Gene Tree for MGAM (if available)
TreeFam:
Gene Tree for MGAM (if available)

Paralogs for MGAM Gene

Paralogs for MGAM Gene

(2) SIMAP similar genes for MGAM Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with MGAM: view

Variants for MGAM Gene

Sequence variations from dbSNP and Humsavar for MGAM Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2272330 - 142,027,726(+) GCACA(G/T)CTCCC nc-transcript-variant, reference, missense
rs10266732 - 142,032,865(+) GGTCT(C/T)AGGAT nc-transcript-variant, reference, missense
rs2960746 - 142,047,858(+) GGGAT(A/G)ATGGG nc-transcript-variant, reference, missense
rs9655651 - 142,095,706(+) CTCTG(A/C)TCCAT nc-transcript-variant, reference, missense
rs941254 -- 142,007,218(+) aatat(A/T)tgaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MGAM Gene

Variant ID Type Subtype PubMed ID
nsv831161 CNV Loss 17160897
dgv2142e1 CNV Complex 17122850
esv270979 CNV Insertion 20981092
nsv515542 CNV Loss 19592680
nsv8217 CNV Loss 18304495
nsv889249 CNV Loss 21882294
nsv464740 CNV Loss 19166990
nsv824323 CNV Loss 20364138
esv25886 CNV Gain+Loss 19812545
esv1318675 CNV Insertion 17803354
esv1556929 CNV Deletion 17803354
esv2735254 CNV Deletion 23290073
dgv7499n71 CNV Gain 21882294
esv2735255 CNV Deletion 23290073
nsv525756 CNV Loss 19592680
nsv889251 CNV Loss 21882294
nsv464741 CNV Loss 19166990
dgv832n27 CNV Gain 19166990
nsv8218 CNV Gain+Loss 18304495
nsv824324 CNV Gain 20364138
dgv833n27 CNV Gain 19166990
dgv7500n71 CNV Loss 21882294
dgv1242e199 CNV Deletion 23128226
nsv470395 CNV Loss 18288195
dgv834n27 CNV Loss 19166990
nsv818558 CNV Gain+Loss 17921354
nsv433393 CNV Gain 18776910
dgv835n27 CNV Loss 19166990
nsv464790 CNV Gain 19166990
dgv836n27 CNV Loss 19166990
nsv516285 CNV Gain+Loss 19592680
esv33962 CNV Gain+Loss 17666407
nsv5975 CNV Insertion 18451855
dgv7501n71 CNV Loss 21882294
nsv818559 CNV Loss 17921354
nsv889264 CNV Gain+Loss 21882294
dgv1136n67 CNV Loss 20364138
dgv1163e201 CNV Deletion 23290073
nsv820289 CNV Loss 19587683
esv2421934 CNV Deletion 20811451
nsv433239 CNV Loss 18776910
esv1780125 CNV Insertion 17803354
nsv514453 CNV Complex 21397061
nsv442187 CNV CNV 18776908
dgv837n27 CNV Loss 19166990
nsv818560 CNV Loss 17921354
nsv438007 CNV Loss 16468122
nsv465105 CNV Gain 19166990
dgv7502n71 CNV Loss 21882294
dgv838n27 CNV Loss 19166990
nsv5976 CNV Insertion 18451855
nsv824329 CNV Loss 20364138
dgv1164e201 CNV Deletion 23290073
nsv824330 CNV Loss 20364138

Variation tolerance for MGAM Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.91; 97.97% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MGAM Gene

Disorders for MGAM Gene

MalaCards: The human disease database

(20) MalaCards diseases for MGAM Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intestinal disaccharidase deficiency
  • disaccharidase deficiency
diarrhea
  • diarrhea of presumed infectious origin
orthostatic intolerance
  • neurocirculatory asthenia
gastrointestinal defects and immunodeficiency syndrome
  • multiple intestinal atresia
hyperlipoproteinemia type iii
  • carbohydrate induced hyperlipemia
- elite association - COSMIC cancer census association via MalaCards
Search MGAM in MalaCards View complete list of genes associated with diseases

Genatlas disease for MGAM Gene

diarrhea in children associated with starch malabsorption and small intestinal glucoamylase deficiency

Relevant External Links for MGAM

Genetic Association Database (GAD)
MGAM
Human Genome Epidemiology (HuGE) Navigator
MGAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MGAM
genes like me logo Genes that share disorders with MGAM: view

No data available for UniProtKB/Swiss-Prot for MGAM Gene

Publications for MGAM Gene

  1. Human small intestinal maltase-glucoamylase cDNA cloning. Homology to sucrase-isomaltase. (PMID: 9446624) Nichols B.L. … Sterchi E.E. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. (PMID: 16359900) Okumiya T. … Reuser A.J. (Mol. Genet. Metab. 2006) 23 25 26
  3. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. (PMID: 16702880) Zhang H. … Bali D. (Genet. Med. 2006) 23 25 26
  4. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. (PMID: 16763908) Gelb M.H. … Chamoles N.A. (J. Inherit. Metab. Dis. 2006) 23 25 26
  5. Inhibition of recombinant human maltase glucoamylase by salacinol and derivatives. (PMID: 16817895) Rossi E.J. … Rose D.R. (FEBS J. 2006) 23 25 26

Products for MGAM Gene

Sources for MGAM Gene

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