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    MGAM maltase-glucoamylase [ Homo sapiens (human) ]

    Gene ID: 8972, updated on 3-May-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
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (141986518..142106747)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (143304624..143421799)
    105.20220307 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
    • 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. 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
    2. 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
    3. Unexpected high digestion rate of cooked starch by the Ct-maltase-glucoamylase small intestine mucosal α-glucosidase subunit. Lin AH, et al. PLoS One, 2012. PMID 22563462, Free PMC Article
    4. Structural insight into substrate specificity of human intestinal maltase-glucoamylase. Ren L, et al. Protein Cell, 2011 Oct. PMID 22058037, Free PMC Article
    5. Study of the inhibition of two human maltase-glucoamylases catalytic domains by different α-glucosidase inhibitors. Ren L, et al. Carbohydr Res, 2011 Dec 13. PMID 22036121

    See all (32) 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 maltose 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_2023_10

    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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