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MGAM maltase-glucoamylase [ Homo sapiens (human) ]

Gene ID: 8972, updated on 8-Jul-2021

Summary

Official Symbol
MGAMprovided by HGNC
Official Full Name
maltase-glucoamylaseprovided by HGNC
Primary source
HGNC:HGNC:7043
See related
Ensembl:ENSG00000257335 MIM:154360
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

See MGAM in Genome Data Viewer
Location:
7q34
Exon count:
75
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (141986517..142106747)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (141695679..141806547)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene C-type lectin domain containing 5A Neighboring gene taste 2 receptor member 38 Neighboring gene maltase-glucoamylase 2 (putative) 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

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genetic variants associated with disordered eating.
GeneReviews: Not available
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
GeneReviews: Not available
The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 hydrolase activity, hydrolyzing O-glycosyl compounds IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 maltose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in starch catabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
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

Preferred Names
maltase-glucoamylase, intestinal
Names
brush border hydrolase
maltase-glucoamylase (alpha-glucosidase)
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

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_033954.1 RefSeqGene

    Range
    5001..115869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001365693.1NP_001352622.1  maltase-glucoamylase, intestinal 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
    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, intestinal 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/Swiss-Prot
    O43451
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    141986517..142106747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012772.1XP_016868261.1  maltase-glucoamylase, intestinal isoform X1

    UniProtKB/TrEMBL
    E7ER45
    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_011516672.2XP_011514974.1  maltase-glucoamylase, intestinal isoform X1

    See identical proteins and their annotated locations for XP_011514974.1

    UniProtKB/TrEMBL
    E7ER45
    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
  3. XM_011516670.2XP_011514972.1  maltase-glucoamylase, intestinal isoform X1

    See identical proteins and their annotated locations for XP_011514972.1

    UniProtKB/TrEMBL
    E7ER45
    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_024446990.1XP_024302758.1  maltase-glucoamylase, intestinal isoform X2

    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
  5. XM_011516674.2XP_011514976.1  maltase-glucoamylase, intestinal isoform X3

    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
  6. XM_011516671.2XP_011514973.1  maltase-glucoamylase, intestinal isoform X1

    See identical proteins and their annotated locations for XP_011514973.1

    UniProtKB/TrEMBL
    E7ER45
    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_011516673.2XP_011514975.1  maltase-glucoamylase, intestinal isoform X1

    See identical proteins and their annotated locations for XP_011514975.1

    UniProtKB/TrEMBL
    E7ER45
    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

RNA

  1. XR_927545.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187562.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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