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MGAM maltase-glucoamylase [ Homo sapiens (human) ]

Gene ID: 8972, updated on 5-Mar-2024

Summary

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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Try the new Transcript table

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 

General protein information

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_001365693.1NP_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:9571000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:12151717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  2. NM_004668.3NP_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:88136
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:349820
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    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_017012772.2XP_016868261.1  maltase-glucoamylase isoform X1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
    Conserved Domains (6) summary
    smart00018
    Location:9571000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:12151717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  2. XM_047421011.1XP_047276967.1  maltase-glucoamylase isoform X1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
  3. XM_011516672.3XP_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:9571000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:12151717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  4. XM_047421012.1XP_047276968.1  maltase-glucoamylase isoform X1

    UniProtKB/Swiss-Prot
    E7ER45, O43451, Q0VAX6, Q75ME7, Q86UM5
  5. XM_011516670.3XP_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:9571000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:12151717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  6. XM_011516671.3XP_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:9571000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:12151717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  7. XM_024446990.2XP_024302758.1  maltase-glucoamylase isoform X5

    UniProtKB/TrEMBL
    Q8TE24
    Conserved Domains (6) summary
    smart00018
    Location:9571000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:12151717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  8. XM_011516673.3XP_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:9571000
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:90132
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:12151717
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  9. XM_047421013.1XP_047276969.1  maltase-glucoamylase isoform X2

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

    Conserved Domains (6) summary
    smart00018
    Location:88136
    PD; P or trefoil or TFF domain
    cd06602
    Location:368731
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:252368
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:349820
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:150259
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
    cl07893
    Location:12341448
    AmyAc_family; Alpha amylase catalytic domain family
  11. XM_047421014.1XP_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_054359297.1XP_054215272.1  maltase-glucoamylase isoform X1

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

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

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

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

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

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