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MGAM maltase-glucoamylase [ Homo sapiens (human) ]

Gene ID: 8972, updated on 2-Nov-2024

Summary

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Official Symbol
MGAMprovided by HGNC
Official Full Name
maltase-glucoamylaseprovided by HGNC
Primary source
HGNC:HGNC:7043
See related
Ensembl:ENSG00000257335 MIM:154360; AllianceGenome:HGNC:7043
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
Also known as
MG; MGA
Summary
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]
Expression
Biased expression in small intestine (RPKM 57.9), duodenum (RPKM 42.9) and 2 other tissues See more
Orthologs
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Genomic context

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See MGAM in Genome Data Viewer
Location:
7q34
Exon count:
75
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (141986518..142106747)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (143304624..143421799)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (141695679..141806547)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901761 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:141645256-141646455 Neighboring gene C-type lectin domain containing 5A Neighboring gene OCT4 hESC enhancer GRCh37_chr7:141654062-141654628 Neighboring gene taste 2 receptor member 38 Neighboring gene NANOG hESC enhancer GRCh37_chr7:141695377-141695878 Neighboring gene maltase-glucoamylase 2 (putative) Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:141895891-141897090 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:141945363-141946562 Neighboring gene monooxygenase DBH like 2, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Structure, biosynthesis, and glycosylation of human small intestinal maltase-glucoamylase. Naim HY, et al. J Biol Chem, 1988 Dec 25. PMID 3143729
  2. Mechanistic Pathway on Human α-Glucosidase Maltase-Glucoamylase Unveiled by QM/MM Calculations. Brás NF, et al. J Phys Chem B, 2018 Apr 12. PMID 29548257
  3. The maltase-glucoamylase gene: common ancestry to sucrase-isomaltase with complementary starch digestion activities. Nichols BL, et al. Proc Natl Acad Sci U S A, 2003 Feb 4. PMID 12547908, Free PMC Article
  4. Evidence of native starch degradation with human small intestinal maltase-glucoamylase (recombinant). Ao Z, et al. FEBS Lett, 2007 May 29. PMID 17485087
  5. Branch pattern of starch internal structure influences the glucogenesis by mucosal Nt-maltase-glucoamylase. Lin AH, et al. Carbohydr Polym, 2014 Oct 13. PMID 25037326

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mechanistic Pathway on Human alpha-Glucosidase Maltase-Glucoamylase Unveiled by QM/MM Calculations
    Title: Mechanistic Pathway on Human α-Glucosidase Maltase-Glucoamylase Unveiled by QM/MM Calculations.
  2. MGAM, or nearby regulatory elements, may be involved in the etiology of oral clefts.
    Title: A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.
  3. Starch internal structure modulates its susceptibility to MGAM. The internal branch amounts negatively affect the glucose release rate.
    Title: Branch pattern of starch internal structure influences the glucogenesis by mucosal Nt-maltase-glucoamylase.
  4. The over-expression of MGAM was confirmed with a 6.6 fold increase in expression at the mRNA level whereas the fold change in ADAM9 demonstrated a 1.6 fold increase.
    Title: Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9.
  5. Findings suggest that C-terminal subunits of recombinant maltase-glucoamylase (MGAM) assists alpha-amylase in digesting starch molecules and potentially may compensate for developmental or pathological amylase deficiencies.
    Title: Unexpected high digestion rate of cooked starch by the Ct-maltase-glucoamylase small intestine mucosal α-glucosidase subunit.
  6. These results suggest that the N-terminal and C-terminal catalytic domains of maltase-glucoamylase differ in their substrate specificities and inhibitor tolerance despite their structural relationship
    Title: Study of the inhibition of two human maltase-glucoamylases catalytic domains by different α-glucosidase inhibitors.
  7. we report crystal structures of C-terminal maltase-glucoamylase alone at a resolution of 3.1 angstroms, and in complex with its inhibitor acarbose
    Title: Structural insight into substrate specificity of human intestinal maltase-glucoamylase.
  8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  10. analysis of substrate selectivity of human maltase-glucoamylase and sucrase-isomaltase N-terminal domains
    Title: Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genetic variants associated with disordered eating.
EBI GWAS Catalog
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
EBI GWAS Catalog
The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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 alpha-1,4-glucosidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables amylase activity IEA
Inferred from Electronic Annotation
more info
  
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables catalytic activity TAS
Traceable Author Statement
more info
 PubMed 
enables glucan 1,4-alpha-glucosidase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in dextrin catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in maltose catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in starch catabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
maltase-glucoamylase
Names
alpha-1,4-glucosidase
brush border hydrolase
maltase-glucoamylase (alpha-glucosidase)
maltase-glucoamylase, intestinal
NP_001352622.1
NP_004659.2
XP_011514972.1
XP_011514973.1
XP_011514974.1
XP_011514975.1
XP_011514976.1
XP_016868261.1
XP_024302758.1
XP_047276967.1
XP_047276968.1
XP_047276969.1
XP_047276970.1
XP_054215270.1
XP_054215271.1
XP_054215272.1
XP_054215273.1
XP_054215274.1
XP_054215275.1
XP_054215276.1

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_033954.2 RefSeqGene

    Range
    14363..125231
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001365693.1 → NP_001352622.1  maltase-glucoamylase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC073647, AC091684, AC091742
    Consensus CDS
    CCDS94221.1
    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
    Related
    ENSP00000417515.2, ENST00000475668.6
    Conserved Domains (6) summary
    smart00018
    Location:957 → 1000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90 → 132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:1215 → 1717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  2. NM_004668.3 → NP_004659.2  maltase-glucoamylase isoform 2

    See identical proteins and their annotated locations for NP_004659.2

    Status: REVIEWED

    Source sequence(s)
    AC091684, AC091742, AF016833
    Consensus CDS
    CCDS47727.1
    UniProtKB/TrEMBL
    Q8TE24
    Related
    ENSP00000447378.2, ENST00000549489.6
    Conserved Domains (5) summary
    smart00018
    Location:88 → 136
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:349 → 820
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    141986518..142106747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012772.2 → XP_016868261.1  maltase-glucoamylase isoform X1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
    Conserved Domains (6) summary
    smart00018
    Location:957 → 1000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90 → 132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:1215 → 1717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  2. XM_047421011.1 → XP_047276967.1  maltase-glucoamylase isoform X1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5

  3. XM_011516672.3 → XP_011514974.1  maltase-glucoamylase isoform X1

    See identical proteins and their annotated locations for XP_011514974.1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
    Conserved Domains (6) summary
    smart00018
    Location:957 → 1000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90 → 132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:1215 → 1717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  4. XM_047421012.1 → XP_047276968.1  maltase-glucoamylase isoform X1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5

  5. XM_011516670.3 → XP_011514972.1  maltase-glucoamylase isoform X1

    See identical proteins and their annotated locations for XP_011514972.1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
    Conserved Domains (6) summary
    smart00018
    Location:957 → 1000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90 → 132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:1215 → 1717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  6. XM_011516671.3 → XP_011514973.1  maltase-glucoamylase isoform X1

    See identical proteins and their annotated locations for XP_011514973.1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
    Conserved Domains (6) summary
    smart00018
    Location:957 → 1000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90 → 132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:1215 → 1717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  7. XM_024446990.2 → XP_024302758.1  maltase-glucoamylase isoform X5

    UniProtKB/TrEMBL
    Q8TE24
    Conserved Domains (6) summary
    smart00018
    Location:957 → 1000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90 → 132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:1215 → 1717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  8. XM_011516673.3 → XP_011514975.1  maltase-glucoamylase isoform X1

    See identical proteins and their annotated locations for XP_011514975.1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
    Conserved Domains (6) summary
    smart00018
    Location:957 → 1000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90 → 132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:1215 → 1717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  9. XM_047421013.1 → XP_047276969.1  maltase-glucoamylase isoform X2

  10. XM_011516674.3 → XP_011514976.1  maltase-glucoamylase isoform X4

    Conserved Domains (6) summary
    smart00018
    Location:88 → 136
    PD; P or trefoil or TFF domain
    cd06602
    Location:368 → 731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252 → 368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:349 → 820
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150 → 259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
    cl07893
    Location:1234 → 1448
    AmyAc_family; Alpha amylase catalytic domain family

  11. XM_047421014.1 → XP_047276970.1  maltase-glucoamylase isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    411..68627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    143304624..143421799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359297.1 → XP_054215272.1  maltase-glucoamylase isoform X1

  2. XM_054359296.1 → XP_054215271.1  maltase-glucoamylase isoform X1

  3. XM_054359298.1 → XP_054215273.1  maltase-glucoamylase isoform X1

  4. XM_054359295.1 → XP_054215270.1  maltase-glucoamylase isoform X1

  5. XM_054359299.1 → XP_054215274.1  maltase-glucoamylase isoform X2

  6. XM_054359301.1 → XP_054215276.1  maltase-glucoamylase isoform X4

  7. XM_054359300.1 → XP_054215275.1  maltase-glucoamylase isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43451.6 GenPept UniProtKB/Swiss-Prot:O43451

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