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Protein

Lysosomal alpha-glucosidase

Gene

GAA

Organism
Bos taurus (Bovine)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Essential for the degradation of glycogen in lysosomes (PubMed:10723725). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.By similarity1 Publication

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei391SubstrateBy similarity1
Active sitei505NucleophilePROSITE-ProRule annotation1
Active sitei508By similarity1
Binding sitei587SubstrateBy similarity1
Binding sitei603SubstrateBy similarity1
Binding sitei661SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

ReactomeiR-BTA-6798695 Neutrophil degranulation
R-BTA-70221 Glycogen breakdown (glycogenolysis)

Protein family/group databases

CAZyiGH31 Glycoside Hydrolase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosomal alpha-glucosidase (EC:3.2.1.20By similarity)
Alternative name(s):
Acid maltase
Gene namesi
Name:GAA
OrganismiBos taurus (Bovine)
Taxonomic identifieri9913 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaCetartiodactylaRuminantiaPecoraBovidaeBovinaeBos
Proteomesi
  • UP000009136 Componenti: Chromosome 19

Organism-specific databases

VGNCiVGNC:29182 GAA

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.1 Publication

Chemistry databases

ChEMBLiCHEMBL2974

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
PropeptideiPRO_000026043824 – 60Sequence analysisAdd BLAST37
ChainiPRO_000026043961 – 937Lysosomal alpha-glucosidaseAdd BLAST877

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi70 ↔ 97PROSITE-ProRule annotation
Disulfide bondi80 ↔ 96PROSITE-ProRule annotation
Disulfide bondi91 ↔ 114PROSITE-ProRule annotation
Glycosylationi127N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi259N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi377N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi457N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi520 ↔ 545By similarity
Disulfide bondi634 ↔ 645By similarity
Glycosylationi639N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi867N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi888N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi910N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9MYM4
PeptideAtlasiQ9MYM4
PRIDEiQ9MYM4

Expressioni

Gene expression databases

BgeeiENSBTAG00000016021

Interactioni

Protein-protein interaction databases

STRINGi9913.ENSBTAP00000021325

Chemistry databases

BindingDBiQ9MYM4

Structurei

3D structure databases

ProteinModelPortaliQ9MYM4
SMRiQ9MYM4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini68 – 118P-typePROSITE-ProRule annotationAdd BLAST51

Sequence similaritiesi

Belongs to the glycosyl hydrolase 31 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1065 Eukaryota
COG1501 LUCA
GeneTreeiENSGT00760000119229
HOGENOMiHOG000041175
HOVERGENiHBG006297
InParanoidiQ9MYM4
KOiK12316
OMAiHWTGDVW
OrthoDBiEOG091G030L
TreeFamiTF314577

Family and domain databases

CDDicd00111 Trefoil, 1 hit
Gene3Di2.60.40.1180, 2 hits
InterProiView protein in InterPro
IPR031727 Gal_mutarotase_N
IPR011013 Gal_mutarotase_sf_dom
IPR000322 Glyco_hydro_31
IPR030458 Glyco_hydro_31_AS
IPR030459 Glyco_hydro_31_CS
IPR025887 Glyco_hydro_31_N_dom
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR017957 P_trefoil_CS
IPR000519 P_trefoil_dom
PfamiView protein in Pfam
PF13802 Gal_mutarotas_2, 1 hit
PF01055 Glyco_hydro_31, 1 hit
PF16863 NtCtMGAM_N, 1 hit
PF00088 Trefoil, 1 hit
SMARTiView protein in SMART
SM00018 PD, 1 hit
SUPFAMiSSF51445 SSF51445, 2 hits
SSF74650 SSF74650, 1 hit
PROSITEiView protein in PROSITE
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

Sequencei

Sequence statusi: Complete.

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

Q9MYM4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMRWPPCSRP LLGVCTLLSL ALLGHILLHD LEVVPRELRG FSQDEIHQAC
60 70 80 90 100
QPGASSPECR GSPRAAPTQC DLPPNSRFDC APDKGITPQQ CEARGCCYMP
110 120 130 140 150
AEWPPDAQMG QPWCFFPPSY PSYRLENLTT TETGYTATLT RAVPTFFPKD
160 170 180 190 200
IMTLRLDMLM ETESRLHFTI KDPANRRYEV PLETPRVYSQ APFTLYSVEF
210 220 230 240 250
SEEPFGVVVR RKLDGRVLLN TTVAPLFFAD QFLQLSTSLP SQHITGLAEH
260 270 280 290 300
LGSLMLSTNW TKITLWNRDI APEPNVNLYG SHPFYLVLED GGLAHGVFLL
310 320 330 340 350
NSNAMDVVLQ PSPALSWRST GGILDVYIFL GPEPKSVVQQ YLDVVGYPFM
360 370 380 390 400
PPYWGLGFHL CRWGYSTSAI TRQVVENMTR AYFPLDVQWN DLDYMDARRD
410 420 430 440 450
FTFNKDHFGD FPAMVQELHQ GGRRYIMIVD PAISSSGPAG TYRPYDEGLR
460 470 480 490 500
RGVFITNETG QPLIGQVWPG LTAFPDFTNP ETLDWWQDMV TEFHAQVPFD
510 520 530 540 550
GMWIDMNEPS NFVRGSVDGC PDNSLENPPY LPGVVGGTLR AATICASSHQ
560 570 580 590 600
FLSTHYDLHN LYGLTEALAS HRALVKARGM RPFVISRSTF AGHGRYSGHW
610 620 630 640 650
TGDVWSNWEQ LSYSVPEILL FNLLGVPLVG ADICGFLGNT SEELCVRWTQ
660 670 680 690 700
LGAFYPFMRN HNALNSQPQE PYRFSETAQQ AMRKAFTLRY VLLPYLYTLF
710 720 730 740 750
HRAHVRGETV ARPLFLEFPE DPSTWTVDRQ LLWGEALLIT PVLEAEKVEV
760 770 780 790 800
TGYFPQGTWY DLQTVPMEAF GSLPPPAPLT SVIHSKGQWV TLSAPLDTIN
810 820 830 840 850
VHLRAGHIIP MQGPALTTTE SRKQHMALAV ALTASGEAQG ELFWDDGESL
860 870 880 890 900
GVLDGGDYTQ LIFLAKNNTF VNKLVHVSSE GASLQLRNVT VLGVATAPQQ
910 920 930
VLCNSVPVSN FTFSPDTETL AIPVSLTMGE QFVISWS
Length:937
Mass (Da):104,757
Last modified:October 1, 2000 - v1
Checksum:iB7E9A2D66BAF5026
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti103W → R1 Publication1
Natural varianti208V → I1 Publication1
Natural varianti451R → W 70% to 80% decrease in activity. 1 Publication1
Natural varianti702R → G1 Publication1
Natural varianti779L → F1 Publication1
Natural varianti825H → P1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF171665 mRNA Translation: AAF81636.1
AF171666 Genomic DNA Translation: AAF81637.1
RefSeqiNP_776338.1, NM_173913.2
XP_005221193.1, XM_005221136.3
UniGeneiBt.52221

Genome annotation databases

EnsembliENSBTAT00000021325; ENSBTAP00000021325; ENSBTAG00000016021
GeneIDi280798
KEGGibta:280798

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLYAG_BOVIN
AccessioniPrimary (citable) accession number: Q9MYM4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 1, 2000
Last modified: May 23, 2018
This is version 104 of the entry and version 1 of the sequence. See 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
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