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Q9MYM4

- LYAG_BOVIN

UniProt

Q9MYM4 - LYAG_BOVIN

Protein

Lysosomal alpha-glucosidase

Gene

GAA

Organism
Bos taurus (Bovine)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 73 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Essential for the degradation of glygogen to glucose in lysosomes.By similarity

    Catalytic activityi

    Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei505 – 5051NucleophilePROSITE-ProRule annotation
    Active sitei508 – 5081By similarity

    GO - Molecular functioni

    1. carbohydrate binding Source: InterPro
    2. maltose alpha-glucosidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. cardiac muscle contraction Source: Ensembl
    2. diaphragm contraction Source: Ensembl
    3. glycogen catabolic process Source: Ensembl
    4. locomotory behavior Source: Ensembl
    5. lysosome organization Source: Ensembl
    6. muscle cell cellular homeostasis Source: Ensembl
    7. neuromuscular process controlling balance Source: Ensembl
    8. neuromuscular process controlling posture Source: Ensembl
    9. regulation of the force of heart contraction Source: Ensembl
    10. tongue morphogenesis Source: Ensembl
    11. vacuolar sequestering Source: Ensembl
    12. ventricular cardiac muscle tissue morphogenesis Source: Ensembl

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Protein family/group databases

    CAZyiGH31. Glycoside Hydrolase Family 31.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lysosomal alpha-glucosidase (EC:3.2.1.20)
    Alternative name(s):
    Acid maltase
    Gene namesi
    Name:GAA
    OrganismiBos taurus (Bovine)
    Taxonomic identifieri9913 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaCetartiodactylaRuminantiaPecoraBovidaeBovinaeBos
    ProteomesiUP000009136: Chromosome 19

    Subcellular locationi

    Lysosome By similarity. Lysosome membrane By similarity

    GO - Cellular componenti

    1. lysosomal membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in GAA are the cause of generalized glycogenosis. It is characterized by a accumulation of glycogen within lysosomes. This disease has been reported in Brahman and Shorthorn breeds. Its most common clinical representation is a failure to thrive, progressive muscular weakness and an un-coordinated gait.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Propeptidei24 – 6037Sequence AnalysisPRO_0000260438Add
    BLAST
    Chaini61 – 937877Lysosomal alpha-glucosidasePRO_0000260439Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi127 – 1271N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi220 – 2201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi259 – 2591N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi377 – 3771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi457 – 4571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi639 – 6391N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi867 – 8671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi888 – 8881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi910 – 9101N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9MYM4.
    PRIDEiQ9MYM4.

    Interactioni

    Protein-protein interaction databases

    STRINGi9913.ENSBTAP00000021325.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9MYM4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini68 – 11851P-typePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 31 family.Curated
    Contains 1 P-type (trefoil) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG1501.
    GeneTreeiENSGT00740000115444.
    HOGENOMiHOG000041175.
    HOVERGENiHBG006297.
    InParanoidiQ9MYM4.
    KOiK12316.
    OMAiGDVWSNW.
    OrthoDBiEOG77HDD0.
    TreeFamiTF314577.

    Family and domain databases

    Gene3Di4.10.110.10. 1 hit.
    InterProiIPR011013. Gal_mutarotase_SF_dom.
    IPR000322. Glyco_hydro_31.
    IPR025887. Glyco_hydro_31_N_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR000519. P_trefoil.
    IPR017957. P_trefoil_CS.
    [Graphical view]
    PfamiPF13802. Gal_mutarotas_2. 1 hit.
    PF01055. Glyco_hydro_31. 1 hit.
    PF00088. Trefoil. 1 hit.
    [Graphical view]
    SMARTiSM00018. PD. 1 hit.
    [Graphical view]
    SUPFAMiSSF51445. SSF51445. 2 hits.
    SSF57492. SSF57492. 1 hit.
    SSF74650. SSF74650. 1 hit.
    PROSITEiPS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
    PS00707. GLYCOSYL_HYDROL_F31_2. 1 hit.
    PS00025. P_TREFOIL_1. 1 hit.
    PS51448. P_TREFOIL_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9MYM4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMRWPPCSRP LLGVCTLLSL ALLGHILLHD LEVVPRELRG FSQDEIHQAC    50
    QPGASSPECR GSPRAAPTQC DLPPNSRFDC APDKGITPQQ CEARGCCYMP 100
    AEWPPDAQMG QPWCFFPPSY PSYRLENLTT TETGYTATLT RAVPTFFPKD 150
    IMTLRLDMLM ETESRLHFTI KDPANRRYEV PLETPRVYSQ APFTLYSVEF 200
    SEEPFGVVVR RKLDGRVLLN TTVAPLFFAD QFLQLSTSLP SQHITGLAEH 250
    LGSLMLSTNW TKITLWNRDI APEPNVNLYG SHPFYLVLED GGLAHGVFLL 300
    NSNAMDVVLQ PSPALSWRST GGILDVYIFL GPEPKSVVQQ YLDVVGYPFM 350
    PPYWGLGFHL CRWGYSTSAI TRQVVENMTR AYFPLDVQWN DLDYMDARRD 400
    FTFNKDHFGD FPAMVQELHQ GGRRYIMIVD PAISSSGPAG TYRPYDEGLR 450
    RGVFITNETG QPLIGQVWPG LTAFPDFTNP ETLDWWQDMV TEFHAQVPFD 500
    GMWIDMNEPS NFVRGSVDGC PDNSLENPPY LPGVVGGTLR AATICASSHQ 550
    FLSTHYDLHN LYGLTEALAS HRALVKARGM RPFVISRSTF AGHGRYSGHW 600
    TGDVWSNWEQ LSYSVPEILL FNLLGVPLVG ADICGFLGNT SEELCVRWTQ 650
    LGAFYPFMRN HNALNSQPQE PYRFSETAQQ AMRKAFTLRY VLLPYLYTLF 700
    HRAHVRGETV ARPLFLEFPE DPSTWTVDRQ LLWGEALLIT PVLEAEKVEV 750
    TGYFPQGTWY DLQTVPMEAF GSLPPPAPLT SVIHSKGQWV TLSAPLDTIN 800
    VHLRAGHIIP MQGPALTTTE SRKQHMALAV ALTASGEAQG ELFWDDGESL 850
    GVLDGGDYTQ LIFLAKNNTF VNKLVHVSSE GASLQLRNVT VLGVATAPQQ 900
    VLCNSVPVSN FTFSPDTETL AIPVSLTMGE QFVISWS 937
    Length:937
    Mass (Da):104,757
    Last modified:October 1, 2000 - v1
    Checksum:iB7E9A2D66BAF5026
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti103 – 1031W → R.1 Publication
    Natural varianti208 – 2081V → I.1 Publication
    Natural varianti451 – 4511R → W 70% to 80% decrease in activity. 1 Publication
    Natural varianti702 – 7021R → G.1 Publication
    Natural varianti779 – 7791L → F.1 Publication
    Natural varianti825 – 8251H → P.1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF171665 mRNA. Translation: AAF81636.1.
    AF171666 Genomic DNA. Translation: AAF81637.1.
    RefSeqiNP_776338.1. NM_173913.2.
    XP_005221193.1. XM_005221136.1.
    UniGeneiBt.52221.

    Genome annotation databases

    EnsembliENSBTAT00000021325; ENSBTAP00000021325; ENSBTAG00000016021.
    GeneIDi280798.
    KEGGibta:280798.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF171665 mRNA. Translation: AAF81636.1 .
    AF171666 Genomic DNA. Translation: AAF81637.1 .
    RefSeqi NP_776338.1. NM_173913.2.
    XP_005221193.1. XM_005221136.1.
    UniGenei Bt.52221.

    3D structure databases

    ProteinModelPortali Q9MYM4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9913.ENSBTAP00000021325.

    Chemistry

    BindingDBi Q9MYM4.
    ChEMBLi CHEMBL2974.

    Protein family/group databases

    CAZyi GH31. Glycoside Hydrolase Family 31.

    Proteomic databases

    PaxDbi Q9MYM4.
    PRIDEi Q9MYM4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSBTAT00000021325 ; ENSBTAP00000021325 ; ENSBTAG00000016021 .
    GeneIDi 280798.
    KEGGi bta:280798.

    Organism-specific databases

    CTDi 2548.

    Phylogenomic databases

    eggNOGi COG1501.
    GeneTreei ENSGT00740000115444.
    HOGENOMi HOG000041175.
    HOVERGENi HBG006297.
    InParanoidi Q9MYM4.
    KOi K12316.
    OMAi GDVWSNW.
    OrthoDBi EOG77HDD0.
    TreeFami TF314577.

    Miscellaneous databases

    NextBioi 20804953.

    Family and domain databases

    Gene3Di 4.10.110.10. 1 hit.
    InterProi IPR011013. Gal_mutarotase_SF_dom.
    IPR000322. Glyco_hydro_31.
    IPR025887. Glyco_hydro_31_N_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR000519. P_trefoil.
    IPR017957. P_trefoil_CS.
    [Graphical view ]
    Pfami PF13802. Gal_mutarotas_2. 1 hit.
    PF01055. Glyco_hydro_31. 1 hit.
    PF00088. Trefoil. 1 hit.
    [Graphical view ]
    SMARTi SM00018. PD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51445. SSF51445. 2 hits.
    SSF57492. SSF57492. 1 hit.
    SSF74650. SSF74650. 1 hit.
    PROSITEi PS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
    PS00707. GLYCOSYL_HYDROL_F31_2. 1 hit.
    PS00025. P_TREFOIL_1. 1 hit.
    PS51448. P_TREFOIL_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis."
      Dennis J.A., Moran C., Healy P.J.
      Mamm. Genome 11:206-212(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS ARG-103; ILE-208; TRP-451; GLY-702; PHE-779 AND PRO-825, INVOLVEMENT IN GENERALIZED GLYCOGENOSIS.
      Strain: Brahman and Poll Shorthorn.

    Entry informationi

    Entry nameiLYAG_BOVIN
    AccessioniPrimary (citable) accession number: Q9MYM4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 73 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3