Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9MYM4 (LYAG_BOVIN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lysosomal alpha-glucosidase

EC=3.2.1.20
Alternative name(s):
Acid maltase
Gene names
Name:GAA
OrganismBos taurus (Bovine) [Reference proteome]
Taxonomic identifier9913 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaCetartiodactylaRuminantiaPecoraBovidaeBovinaeBos

Protein attributes

Sequence length937 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Catalytic activity

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

Subcellular location

Lysosome By similarity. Lysosome membrane By similarity.

Involvement in disease

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.

Sequence similarities

Belongs to the glycosyl hydrolase 31 family.

Contains 1 P-type (trefoil) domain.

Ontologies

Keywords
   Cellular componentLysosome
Membrane
   Coding sequence diversityPolymorphism
   DomainSignal
   Molecular functionGlycosidase
Hydrolase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcardiac muscle contraction

Inferred from electronic annotation. Source: Ensembl

diaphragm contraction

Inferred from electronic annotation. Source: Ensembl

glycogen catabolic process

Inferred from electronic annotation. Source: Ensembl

locomotory behavior

Inferred from electronic annotation. Source: Ensembl

lysosome organization

Inferred from electronic annotation. Source: Ensembl

muscle cell cellular homeostasis

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling balance

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling posture

Inferred from electronic annotation. Source: Ensembl

regulation of the force of heart contraction

Inferred from electronic annotation. Source: Ensembl

tongue morphogenesis

Inferred from electronic annotation. Source: Ensembl

vacuolar sequestering

Inferred from electronic annotation. Source: Ensembl

ventricular cardiac muscle tissue morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentlysosomal membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncarbohydrate binding

Inferred from electronic annotation. Source: InterPro

maltose alpha-glucosidase activity

Inferred from electronic annotation. Source: UniProtKB-EC

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Propeptide24 – 6037 Potential
PRO_0000260438
Chain61 – 937877Lysosomal alpha-glucosidase
PRO_0000260439

Regions

Domain68 – 11851P-type

Sites

Active site5051Nucleophile By similarity
Active site5081 By similarity

Amino acid modifications

Glycosylation1271N-linked (GlcNAc...) Potential
Glycosylation2201N-linked (GlcNAc...) Potential
Glycosylation2591N-linked (GlcNAc...) Potential
Glycosylation3771N-linked (GlcNAc...) Potential
Glycosylation4571N-linked (GlcNAc...) Potential
Glycosylation6391N-linked (GlcNAc...) Potential
Glycosylation8671N-linked (GlcNAc...) Potential
Glycosylation8881N-linked (GlcNAc...) Potential
Glycosylation9101N-linked (GlcNAc...) Potential

Natural variations

Natural variant1031W → R. Ref.1
Natural variant2081V → I. Ref.1
Natural variant4511R → W 70% to 80% decrease in activity. Ref.1
Natural variant7021R → G. Ref.1
Natural variant7791L → F. Ref.1
Natural variant8251H → P. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9MYM4 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: B7E9A2D66BAF5026

FASTA937104,757
        10         20         30         40         50         60 
MMRWPPCSRP LLGVCTLLSL ALLGHILLHD LEVVPRELRG FSQDEIHQAC QPGASSPECR 

        70         80         90        100        110        120 
GSPRAAPTQC DLPPNSRFDC APDKGITPQQ CEARGCCYMP AEWPPDAQMG QPWCFFPPSY 

       130        140        150        160        170        180 
PSYRLENLTT TETGYTATLT RAVPTFFPKD IMTLRLDMLM ETESRLHFTI KDPANRRYEV 

       190        200        210        220        230        240 
PLETPRVYSQ APFTLYSVEF SEEPFGVVVR RKLDGRVLLN TTVAPLFFAD QFLQLSTSLP 

       250        260        270        280        290        300 
SQHITGLAEH LGSLMLSTNW TKITLWNRDI APEPNVNLYG SHPFYLVLED GGLAHGVFLL 

       310        320        330        340        350        360 
NSNAMDVVLQ PSPALSWRST GGILDVYIFL GPEPKSVVQQ YLDVVGYPFM PPYWGLGFHL 

       370        380        390        400        410        420 
CRWGYSTSAI TRQVVENMTR AYFPLDVQWN DLDYMDARRD FTFNKDHFGD FPAMVQELHQ 

       430        440        450        460        470        480 
GGRRYIMIVD PAISSSGPAG TYRPYDEGLR RGVFITNETG QPLIGQVWPG LTAFPDFTNP 

       490        500        510        520        530        540 
ETLDWWQDMV TEFHAQVPFD GMWIDMNEPS NFVRGSVDGC PDNSLENPPY LPGVVGGTLR 

       550        560        570        580        590        600 
AATICASSHQ FLSTHYDLHN LYGLTEALAS HRALVKARGM RPFVISRSTF AGHGRYSGHW 

       610        620        630        640        650        660 
TGDVWSNWEQ LSYSVPEILL FNLLGVPLVG ADICGFLGNT SEELCVRWTQ LGAFYPFMRN 

       670        680        690        700        710        720 
HNALNSQPQE PYRFSETAQQ AMRKAFTLRY VLLPYLYTLF HRAHVRGETV ARPLFLEFPE 

       730        740        750        760        770        780 
DPSTWTVDRQ LLWGEALLIT PVLEAEKVEV TGYFPQGTWY DLQTVPMEAF GSLPPPAPLT 

       790        800        810        820        830        840 
SVIHSKGQWV TLSAPLDTIN VHLRAGHIIP MQGPALTTTE SRKQHMALAV ALTASGEAQG 

       850        860        870        880        890        900 
ELFWDDGESL GVLDGGDYTQ LIFLAKNNTF VNKLVHVSSE GASLQLRNVT VLGVATAPQQ 

       910        920        930 
VLCNSVPVSN FTFSPDTETL AIPVSLTMGE QFVISWS 

« Hide

References

[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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF171665 mRNA. Translation: AAF81636.1.
AF171666 Genomic DNA. Translation: AAF81637.1.
RefSeqNP_776338.1. NM_173913.2.
XP_005221193.1. XM_005221136.1.
UniGeneBt.52221.

3D structure databases

ProteinModelPortalQ9MYM4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9913.ENSBTAP00000021325.

Chemistry

BindingDBQ9MYM4.
ChEMBLCHEMBL2974.

Protein family/group databases

CAZyGH31. Glycoside Hydrolase Family 31.

Proteomic databases

PaxDbQ9MYM4.
PRIDEQ9MYM4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSBTAT00000021325; ENSBTAP00000021325; ENSBTAG00000016021.
GeneID280798.
KEGGbta:280798.

Organism-specific databases

CTD2548.

Phylogenomic databases

eggNOGCOG1501.
GeneTreeENSGT00740000115444.
HOGENOMHOG000041175.
HOVERGENHBG006297.
InParanoidQ9MYM4.
KOK12316.
OMAEQFRISW.
OrthoDBEOG77HDD0.
TreeFamTF314577.

Family and domain databases

Gene3D4.10.110.10. 1 hit.
InterProIPR011013. 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]
PfamPF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
PF00088. Trefoil. 1 hit.
[Graphical view]
SMARTSM00018. PD. 1 hit.
[Graphical view]
SUPFAMSSF51445. SSF51445. 2 hits.
SSF57492. SSF57492. 1 hit.
SSF74650. SSF74650. 1 hit.
PROSITEPS00129. 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]
ProtoNetSearch...

Other

NextBio20804953.

Entry information

Entry nameLYAG_BOVIN
AccessionPrimary (citable) accession number: Q9MYM4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 1, 2000
Last modified: February 19, 2014
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries