Lysosomal alpha-glucosidase precursor - Bos taurus (Bovine)

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Reviewed, UniProtKB/Swiss-Prot Q9MYM4 (LYAG_BOVIN)

Last modified January 19, 2010. Version 42. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein names

Recommended name:
    Lysosomal alpha-glucosidase
    EC=3.2.1.20
Alternative name(s):
    Acid maltase

Gene names

Name:

GAA

Organism

Bos taurus (Bovine)

Taxonomic identifier

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Laurasiatheria › Cetartiodactyla › Ruminantia › Pecora › Bovidae › Bovinae › Bos

Protein attributes

Sequence length	937 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.
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 component	Lysosome
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Gene Ontology (GO)
Cellular component	lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	alpha-glucosidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

23

Potential

Propeptide

37

Potential

PRO_0000260438

Chain

877

Lysosomal alpha-glucosidase

PRO_0000260439

Regions

Domain

51

P-type

Sites

Active site

1

Nucleophile By similarity

Active site

1

By similarity

Amino acid modifications

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

1

W → R

Natural variant

1

V → I

Natural variant

1

R → W 70% to 80% decrease in activity. Ref.1

Natural variant

1

R → G

Natural variant

1

L → F

Natural variant

1

H → P

Sequences

Sequence

Length

Mass (Da)

Tools

Q9MYM4-1 [UniParc].

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

937

104,757

        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

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: 10723725] [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.
IPI	IPI00695601.
RefSeq	NP_776338.1.
UniGene	Bt.52221
3D structure databases
HSSP	HSSP built from PDB template 2PSP based on UniProtKB P01359.
SMR	Q9MYM4. Positions 73-937.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9MYM4.
Protein family/group databases
CAZy	GH31. Glycoside Hydrolase Family 31.
Genome annotation databases
Ensembl	ENSBTAT00000021325; ENSBTAP00000021325; ENSBTAG00000016021; Bos taurus. [Genome view]
GeneID	280798.
KEGG	bta:280798.
Organism-specific databases
CTD	280798.
Phylogenomic databases
eggNOG	maNOG06692.
HOVERGEN	Q9MYM4.
InParanoid	Q9MYM4.
OMA	PPYVPGV.
PhylomeDB	Q9MYM4.
Enzyme and pathway databases
BRENDA	3.2.1.20. 251.
Family and domain databases
InterPro	IPR000322. Glyco_hydro_31. IPR017853. Glyco_hydro_catalytic_core. IPR000519. P_trefoil. IPR017957. P_trefoil_CS. [Graphical view]
PANTHER	PTHR22762. Glyco_hydro_31. 1 hit.
Pfam	PF01055. Glyco_hydro_31. 1 hit. PF00088. Trefoil. 1 hit. [Graphical view]
SMART	SM00018. PD. 1 hit. [Graphical view]
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. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

LYAG_BOVIN

Accession

Primary (citable) accession number: Q9MYM4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 28, 2006
Last sequence update:	October 1, 2000
Last modified:	January 19, 2010
This is version 42 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Relevant documents

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents