SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9MYM4

- LYAG_BOVIN

UniProt

Q9MYM4 - LYAG_BOVIN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Lysosomal alpha-glucosidase

Gene
GAA
Organism
Bos taurus (Bovine)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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 – 5051Nucleophile By similarity
Active sitei508 – 5081 By 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
Complete GO annotation...

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
Complete GO annotation...

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 – 2323 Reviewed predictionAdd
BLAST
Propeptidei24 – 6037 Reviewed predictionPRO_0000260438Add
BLAST
Chaini61 – 937877Lysosomal alpha-glucosidasePRO_0000260439Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9MYM4.
PRIDEiQ9MYM4.

Interactioni

Protein-protein interaction databases

STRINGi9913.ENSBTAP00000021325.

Structurei

3D structure databases

ProteinModelPortaliQ9MYM4.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini68 – 11851P-typeAdd
BLAST

Sequence similaritiesi

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: May 14, 2014
This is version 72 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

Similar proteinsi