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P10253

- LYAG_HUMAN

UniProt

P10253 - LYAG_HUMAN

Protein

Lysosomal alpha-glucosidase

Gene

GAA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 174 (01 Oct 2014)
      Sequence version 4 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    Essential for the degradation of glygogen to glucose in lysosomes.

    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 sitei518 – 5181Nucleophile1 PublicationPROSITE-ProRule annotation
    Active sitei521 – 5211By similarity

    GO - Molecular functioni

    1. alpha-1,4-glucosidase activity Source: BHF-UCL
    2. carbohydrate binding Source: InterPro
    3. maltose alpha-glucosidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. cardiac muscle contraction Source: BHF-UCL
    2. diaphragm contraction Source: BHF-UCL
    3. glucose metabolic process Source: BHF-UCL
    4. glycogen catabolic process Source: BHF-UCL
    5. heart morphogenesis Source: Ensembl
    6. locomotory behavior Source: Ensembl
    7. lysosome organization Source: BHF-UCL
    8. maltose metabolic process Source: BHF-UCL
    9. muscle cell cellular homeostasis Source: Ensembl
    10. neuromuscular process controlling balance Source: Ensembl
    11. neuromuscular process controlling posture Source: Ensembl
    12. regulation of the force of heart contraction Source: Ensembl
    13. sucrose metabolic process Source: BHF-UCL
    14. tissue development Source: Ensembl
    15. vacuolar sequestering Source: BHF-UCL

    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
    Aglucosidase alfa
    Cleaved into the following 2 chains:
    Gene namesi
    Name:GAA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:4065. GAA.

    Subcellular locationi

    Lysosome 1 Publication. Lysosome membrane 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. lysosomal membrane Source: UniProtKB
    3. lysosome Source: BHF-UCL
    4. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Glycogen storage disease 2 (GSD2) [MIM:232300]: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.40 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461S → P in GSD2. 1 Publication
    VAR_068564
    Natural varianti103 – 1031C → G in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme. 3 Publications
    VAR_018078
    Natural varianti103 – 1031C → R in GSD2. 1 Publication
    VAR_068567
    Natural varianti108 – 1081C → G in GSD2. 1 Publication
    VAR_068568
    Natural varianti127 – 1271C → F in GSD2. 1 Publication
    VAR_068569
    Natural varianti190 – 1901R → H in GSD2. 1 Publication
    VAR_068570
    Natural varianti191 – 1911Y → C in GSD2; extremely low residual enzymatic activity. 1 Publication
    VAR_046467
    Natural varianti208 – 2081L → P in GSD2. 1 Publication
    VAR_029025
    Natural varianti217 – 2171P → L in GSD2. 1 Publication
    VAR_068571
    Natural varianti219 – 2191G → R in GSD2; infantile form; severe; loss of activity. 3 Publications
    VAR_018079
    Natural varianti224 – 2241R → P in GSD2. 1 Publication
    VAR_068574
    Natural varianti224 – 2241R → Q in GSD2. 1 Publication
    VAR_068575
    Natural varianti224 – 2241R → W in GSD2; infantile; mild partial loss of activity. 3 Publications
    VAR_029026
    Natural varianti234 – 2341T → K in GSD2. 2 Publications
    VAR_068576
    Natural varianti234 – 2341T → R in GSD2. 1 Publication
    VAR_068577
    Natural varianti237 – 2371A → V in GSD2. 1 Publication
    VAR_029027
    Natural varianti251 – 2511S → L in GSD2. 1 Publication
    VAR_068578
    Natural varianti254 – 2541S → L in GSD2. 1 Publication
    VAR_068579
    Natural varianti262 – 2621E → K in GSD2; infantile; severe. 3 Publications
    Corresponds to variant rs201896815 [ dbSNP | Ensembl ].
    VAR_029028
    Natural varianti266 – 2661P → S in GSD2. 1 Publication
    VAR_068580
    Natural varianti285 – 2851P → R in GSD2; juvenile form; mild; partial loss of activity. 1 Publication
    VAR_018080
    Natural varianti285 – 2851P → S in GSD2. 1 Publication
    VAR_068582
    Natural varianti291 – 2911L → F in GSD2. 1 Publication
    VAR_068584
    Natural varianti291 – 2911L → P in GSD2. 2 Publications
    VAR_068585
    Natural varianti292 – 2921Y → C in GSD2; juvenile form; mild; partial loss of activity. 1 Publication
    VAR_018081
    Natural varianti293 – 2931G → R in GSD2; infantile form; severe; almost complete loss of activity. 3 Publications
    VAR_018082
    Natural varianti299 – 2991L → R in GSD2; infantile form. 1 Publication
    VAR_004288
    Natural varianti308 – 3081H → L in GSD2. 1 Publication
    VAR_046468
    Natural varianti308 – 3081H → P in GSD2; infantile form; severe; complete loss of activity. 1 Publication
    VAR_018083
    Natural varianti309 – 3091G → R in GSD2; severe. 2 Publications
    VAR_018084
    Natural varianti310 – 3101V → G Found in a patient with GSD2; unknown pathological significance. 1 Publication
    VAR_068586
    Natural varianti312 – 3121L → R in GSD2; infantile form; severe; loss of activity. 1 Publication
    VAR_018085
    Natural varianti316 – 3161N → I in GSD2. 1 Publication
    VAR_068587
    Natural varianti318 – 3181M → K in GSD2. 1 Publication
    VAR_068588
    Natural varianti318 – 3181M → T in GSD2; severe. 1 Publication
    VAR_004289
    Natural varianti324 – 3241P → L in GSD2. 1 Publication
    VAR_029029
    Natural varianti330 – 3301W → G in GSD2; infantile form; severe. 1 Publication
    VAR_029030
    Natural varianti335 – 3351G → E in GSD2. 1 Publication
    VAR_068589
    Natural varianti335 – 3351G → R in GSD2. 1 Publication
    VAR_068590
    Natural varianti347 – 3471P → R in GSD2. 1 Publication
    VAR_068591
    Natural varianti355 – 3551L → P in GSD2; infantile form; severe; loss of activity. 5 Publications
    VAR_018086
    Natural varianti361 – 3611P → L in GSD2; juvenile form; severe. 3 Publications
    VAR_029031
    Natural varianti374 – 3741C → R in GSD2; infantile form; severe; loss of activity. 1 Publication
    VAR_018087
    Natural varianti375 – 3751R → L in GSD2; extremely low residual enzymatic activity. 1 Publication
    VAR_046469
    Natural varianti377 – 3771G → R in GSD2; severe.
    VAR_029032
    Natural varianti391 – 3911M → V Found in a patient with GSD2; unknown pathological significance. 1 Publication
    VAR_068593
    Natural varianti397 – 3971P → L in GSD2. 1 Publication
    VAR_068594
    Natural varianti401 – 4011Q → R in GSD2; extremely low residual enzymatic activity. 1 Publication
    VAR_046470
    Natural varianti402 – 4021W → R in GSD2; severe.
    VAR_004290
    Natural varianti404 – 4041D → N in GSD2; severe.
    VAR_029033
    Natural varianti405 – 4051L → P in GSD2; infantile form; severe; loss of activity. 1 Publication
    VAR_018088
    Natural varianti408 – 4081M → V in GSD2; juvenile form; severe. 2 Publications
    VAR_029034
    Natural varianti419 – 4191D → V in GSD2. 1 Publication
    VAR_068595
    Natural varianti431 – 4333Missing in GSD2.
    VAR_070017
    Natural varianti437 – 4371R → C in GSD2; juvenile form; severe. 1 Publication
    VAR_029035
    Natural varianti445 – 4451A → P in GSD2. 1 Publication
    VAR_029036
    Natural varianti455 – 4551Y → F in GSD2; juvenile form; almost complete loss of activity. 1 Publication
    VAR_018089
    Natural varianti457 – 4571P → H in GSD2. 1 Publication
    VAR_068596
    Natural varianti457 – 4571P → L in GSD2; juvenile form. 1 Publication
    VAR_029040
    Natural varianti459 – 4591Missing in GSD2; infantile form; severe. 1 Publication
    VAR_018090
    Natural varianti478 – 4781G → R in GSD2; severe; loss of activity. 2 Publications
    VAR_004291
    Natural varianti481 – 4811W → R in GSD2; severe; loss of activity. 2 Publications
    VAR_004292
    Natural varianti482 – 4821P → R in GSD2. 1 Publication
    VAR_068598
    Natural varianti483 – 4831G → V in GSD2. 1 Publication
    VAR_068599
    Natural varianti486 – 4861A → P in GSD2. 1 Publication
    VAR_068600
    Natural varianti489 – 4891D → N in GSD2; severe. 2 Publications
    VAR_029037
    Natural varianti519 – 5191M → T in GSD2; severe; loss of activity. 1 Publication
    VAR_004293
    Natural varianti519 – 5191M → V in GSD2. 1 Publication
    VAR_004294
    Natural varianti521 – 5211E → K in GSD2; severe. 1 Publication
    VAR_004295
    Natural varianti521 – 5211E → Q in GSD2. 1 Publication
    VAR_068601
    Natural varianti522 – 5221P → A in GSD2; no residual enzymatic activity. 2 Publications
    VAR_046471
    Natural varianti522 – 5221P → S in GSD2. 1 Publication
    VAR_068602
    Natural varianti523 – 5231S → Y in GSD2. 1 Publication
    VAR_068603
    Natural varianti525 – 5251F → Y in GSD2. 1 Publication
    VAR_068604
    Natural varianti529 – 5291S → V in GSD2; mild; requires 2 nucleotide substitutions. 1 Publication
    VAR_004296
    Natural varianti545 – 5451P → L in GSD2; mild; partial loss of activity. 4 Publications
    VAR_004297
    Natural varianti549 – 5491G → R in GSD2; juvenile form; mild; partial loss of activity. 2 Publications
    VAR_018091
    Natural varianti552 – 5521L → P in GSD2; infantile/juvenile form; severe; loss of activity. 2 Publications
    VAR_018092
    Natural varianti557 – 5571I → F in GSD2. 1 Publication
    VAR_068605
    Natural varianti558 – 5581C → S in GSD2. 2 Publications
    VAR_068606
    Natural varianti566 – 5661S → P in GSD2; infantile form. 1 Publication
    VAR_004298
    Natural varianti568 – 5681H → L in GSD2. 1 Publication
    VAR_070018
    Natural varianti570 – 5701N → K in GSD2. 1 Publication
    VAR_068607
    Natural varianti572 – 5721H → Q in GSD2. 1 Publication
    VAR_068608
    Natural varianti575 – 5751Y → C in GSD2. 1 Publication
    VAR_068609
    Natural varianti575 – 5751Y → S in GSD2; juvenile form. 1 Publication
    VAR_018093
    Natural varianti576 – 5761G → R in GSD2. 1 Publication
    VAR_068610
    Natural varianti579 – 5791E → K in GSD2; infantile form; severe; loss of activity. 1 Publication
    VAR_018094
    Natural varianti585 – 5851R → M in GSD2. 1 Publication
    VAR_046472
    Natural varianti594 – 5941R → H in GSD2. 1 Publication
    VAR_068612
    Natural varianti594 – 5941R → P in GSD2. 2 Publications
    VAR_068613
    Natural varianti599 – 5991S → Y in GSD2; no residual enzymatic activity. 1 Publication
    VAR_046473
    Natural varianti600 – 6001R → C in GSD2; juvenile form; loss of activity. 2 Publications
    VAR_018095
    Natural varianti600 – 6001R → H in GSD2; infantile form.
    VAR_008689
    Natural varianti601 – 6011S → L in GSD2. 2 Publications
    VAR_068614
    Natural varianti602 – 6021T → A in GSD2. 1 Publication
    VAR_068615
    Natural varianti607 – 6126Missing in GSD2.
    VAR_046474
    Natural varianti607 – 6071G → D in GSD2; infantile form; severe; loss of activity. 1 Publication
    VAR_018096
    Natural varianti610 – 6101A → V in GSD2. 1 Publication
    VAR_068616
    Natural varianti611 – 6111G → D Found in a patient with GSD2; unknown pathological significance. 1 Publication
    VAR_068617
    Natural varianti612 – 6121H → Q in GSD2. 1 Publication
    VAR_029038
    Natural varianti612 – 6121H → Y in GSD2. 1 Publication
    VAR_068618
    Natural varianti614 – 6141T → K in GSD2. 1 Publication
    VAR_068619
    Natural varianti615 – 6151G → R in GSD2; infantile/adult form. 1 Publication
    VAR_008690
    Natural varianti619 – 6191S → R in GSD2; loss of function of the mutant enzyme. 1 Publication
    VAR_046475
    Natural varianti627 – 6271S → P in GSD2. 1 Publication
    VAR_068620
    Natural varianti635 – 6351N → K in GSD2. 1 Publication
    VAR_068622
    Natural varianti638 – 6381G → V in GSD2. 1 Publication
    VAR_068623
    Natural varianti638 – 6381G → W in GSD2. 2 Publications
    VAR_046476
    Natural varianti643 – 6431G → R in GSD2; infantile form. 5 Publications
    Corresponds to variant rs28937909 [ dbSNP | Ensembl ].
    VAR_004301
    Natural varianti645 – 6451D → E in GSD2; infantile form; most common mutation; deficient in phosphorylation and in proteolytic processing. 3 Publications
    Corresponds to variant rs28940868 [ dbSNP | Ensembl ].
    VAR_004302
    Natural varianti645 – 6451D → H in GSD2; almost complete loss of activity. 1 Publication
    VAR_004303
    Natural varianti645 – 6451D → N in GSD2. 3 Publications
    VAR_004304
    Natural varianti647 – 6471C → W in GSD2. 2 Publications
    VAR_004305
    Natural varianti648 – 6481G → D in GSD2. 1 Publication
    VAR_068624
    Natural varianti648 – 6481G → S in GSD2. 1 Publication
    VAR_004306
    Natural varianti660 – 6601R → H in GSD2; loss of function of the mutant enzyme. 1 Publication
    VAR_046477
    Natural varianti672 – 6721R → Q in GSD2. 1 Publication
    VAR_004307
    Natural varianti672 – 6721R → T in GSD2. 1 Publication
    VAR_046478
    Natural varianti672 – 6721R → W in GSD2. 2 Publications
    VAR_004308
    Natural varianti675 – 6751Missing in GSD2; infantile form.
    VAR_008692
    Natural varianti700 – 7012Missing Found in a patient with GSD2; unknown pathological significance.
    VAR_068625
    Natural varianti702 – 7021R → C in GSD2; no enzymatic activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme. 1 Publication
    VAR_046479
    Natural varianti702 – 7021R → L in GSD2. 1 Publication
    VAR_068626
    Natural varianti725 – 7251R → W in GSD2; adult form. 1 Publication
    Corresponds to variant rs28939100 [ dbSNP | Ensembl ].
    VAR_004310
    Natural varianti737 – 7371T → N in GSD2. 1 Publication
    VAR_068629
    Natural varianti743 – 7431Q → K in GSD2. 1 Publication
    VAR_068630
    Natural varianti746 – 7461W → G in GSD2. 1 Publication
    VAR_068631
    Natural varianti746 – 7461W → S in GSD2. 1 Publication
    VAR_068632
    Natural varianti766 – 7661Y → C in GSD2. 1 Publication
    VAR_070019
    Natural varianti768 – 7681P → R in GSD2; infantile form. 1 Publication
    VAR_004312
    Natural varianti819 – 8191R → P in GSD2. 1 Publication
    VAR_068633
    Natural varianti880 – 8801A → D in GSD2; infantile form; severe; loss of activity. 1 Publication
    VAR_018097
    Natural varianti901 – 9011L → Q in GSD2; infantile form; severe. 1 Publication
    VAR_029039
    Natural varianti903 – 9031Missing in GSD2; infantile form; severe; loss of activity. 1 Publication
    VAR_004315
    Natural varianti913 – 9131P → R in GSD2. 1 Publication
    VAR_070020
    Natural varianti916 – 9161V → F in GSD2. 1 Publication
    VAR_068634
    Natural varianti925 – 9251N → NGVPVSN in GSD2. 1 Publication
    VAR_004316
    Natural varianti935 – 9351L → P in GSD2. 1 Publication
    VAR_068635
    Natural varianti949 – 9491V → D in GSD2.
    VAR_004318

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi516 – 5161W → R: Loss of activity. 1 Publication
    Mutagenesisi518 – 5181D → G, N or E: Loss of activity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Glycogen storage disease

    Organism-specific databases

    MIMi232300. phenotype.
    Orphaneti308604. Glycogen storage disease due to acid maltase deficiency, adult onset.
    308552. Glycogen storage disease due to acid maltase deficiency, infantile onset.
    308573. Glycogen storage disease due to acid maltase deficiency, juvenile onset.
    PharmGKBiPA28476.

    Protein family/group databases

    Allergomei9614. Hom s Glucosidase.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Propeptidei28 – 69421 PublicationPRO_0000018565Add
    BLAST
    Chaini70 – 952883Lysosomal alpha-glucosidasePRO_0000018566Add
    BLAST
    Chaini123 – 95283076 kDa lysosomal alpha-glucosidasePRO_0000018567Add
    BLAST
    Chaini204 – 95274970 kDa lysosomal alpha-glucosidasePRO_0000018568Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi82 ↔ 109PROSITE-ProRule annotation
    Disulfide bondi92 ↔ 108PROSITE-ProRule annotation
    Disulfide bondi103 ↔ 127PROSITE-ProRule annotation
    Glycosylationi140 – 1401N-linked (GlcNAc...)2 Publications
    Glycosylationi233 – 2331N-linked (GlcNAc...)1 Publication
    Glycosylationi390 – 3901N-linked (GlcNAc...)2 Publications
    Glycosylationi470 – 4701N-linked (GlcNAc...)3 Publications
    Glycosylationi652 – 6521N-linked (GlcNAc...)1 Publication
    Glycosylationi882 – 8821N-linked (GlcNAc...)2 Publications
    Glycosylationi925 – 9251N-linked (GlcNAc...)2 Publications

    Post-translational modificationi

    The different forms of acid glucosidase are obtained by proteolytic processing.
    Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP10253.
    PaxDbiP10253.
    PRIDEiP10253.

    PTM databases

    PhosphoSiteiP10253.

    Expressioni

    Gene expression databases

    ArrayExpressiP10253.
    BgeeiP10253.
    CleanExiHS_GAA.
    GenevestigatoriP10253.

    Organism-specific databases

    HPAiHPA026970.

    Interactioni

    Protein-protein interaction databases

    BioGridi108823. 16 interactions.
    IntActiP10253. 7 interactions.
    STRINGi9606.ENSP00000305692.

    Structurei

    3D structure databases

    ProteinModelPortaliP10253.
    SMRiP10253. Positions 89-951.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini80 – 13152P-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.
    HOGENOMiHOG000041175.
    HOVERGENiHBG006297.
    InParanoidiP10253.
    KOiK12316.
    OMAiSSEMGYT.
    OrthoDBiEOG77HDD0.
    PhylomeDBiP10253.
    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.

    P10253-1 [UniParc]FASTAAdd to Basket

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    MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE    50
    ETHPAHQQGA SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ 100
    EQCEARGCCY IPAKQGLQGA QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA 150
    TLTRTTPTFF PKDILTLRLD VMMETENRLH FTIKDPANRR YEVPLETPHV 200
    HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF FADQFLQLST 250
    SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA 300
    LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV 350
    VQQYLDVVGY PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV 400
    QWNDLDYMDS RRDFTFNKDG FRDFPAMVQE LHQGGRRYMM IVDPAISSSG 450
    PAGSYRPYDE GLRRGVFITN ETGQPLIGKV WPGSTAFPDF TNPTALAWWE 500
    DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN PPYVPGVVGG 550
    TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR 600
    STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL 650
    GNTSEELCVR WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT 700
    LRYALLPHLY TLFHQAHVAG ETVARPLFLE FPKDSSTWTV DHQLLWGEAL 750
    LITPVLQAGK AEVTGYFPLG TWYDLQTVPV EALGSLPPPP AAPREPAIHS 800
    EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP MALAVALTKG 850
    GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ 900
    LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS 950
    WC 952
    Length:952
    Mass (Da):105,324
    Last modified:January 11, 2011 - v4
    Checksum:i6E2717BF7201F469
    GO

    Polymorphismi

    There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461S → P in GSD2. 1 Publication
    VAR_068564
    Natural varianti74 – 741R → H.1 Publication
    VAR_068565
    Natural varianti89 – 891R → H.1 Publication
    VAR_068566
    Natural varianti91 – 911D → N in allele GAA*2; lower affinity for glycogen and starch but not for lower-molecular weight substrates. 3 Publications
    Corresponds to variant rs1800299 [ dbSNP | Ensembl ].
    VAR_004285
    Natural varianti103 – 1031C → G in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme. 3 Publications
    VAR_018078
    Natural varianti103 – 1031C → R in GSD2. 1 Publication
    VAR_068567
    Natural varianti108 – 1081C → G in GSD2. 1 Publication
    VAR_068568
    Natural varianti127 – 1271C → F in GSD2. 1 Publication
    VAR_068569
    Natural varianti190 – 1901R → H in GSD2. 1 Publication
    VAR_068570
    Natural varianti191 – 1911Y → C in GSD2; extremely low residual enzymatic activity. 1 Publication
    VAR_046467
    Natural varianti199 – 1991H → R.4 Publications
    Corresponds to variant rs1042393 [ dbSNP | Ensembl ].
    VAR_004286
    Natural varianti208 – 2081L → P in GSD2. 1 Publication
    VAR_029025
    Natural varianti217 – 2171P → L in GSD2. 1 Publication
    VAR_068571
    Natural varianti219 – 2191G → R in GSD2; infantile form; severe; loss of activity. 3 Publications
    VAR_018079
    Natural varianti220 – 2201V → L.1 Publication
    VAR_068572
    Natural varianti222 – 2221V → M.1 Publication
    VAR_068573
    Natural varianti223 – 2231R → H.4 Publications
    Corresponds to variant rs1042395 [ dbSNP | Ensembl ].
    VAR_004287
    Natural varianti224 – 2241R → P in GSD2. 1 Publication
    VAR_068574
    Natural varianti224 – 2241R → Q in GSD2. 1 Publication
    VAR_068575
    Natural varianti224 – 2241R → W in GSD2; infantile; mild partial loss of activity. 3 Publications
    VAR_029026
    Natural varianti234 – 2341T → K in GSD2. 2 Publications
    VAR_068576
    Natural varianti234 – 2341T → R in GSD2. 1 Publication
    VAR_068577
    Natural varianti237 – 2371A → V in GSD2. 1 Publication
    VAR_029027
    Natural varianti251 – 2511S → L in GSD2. 1 Publication
    VAR_068578
    Natural varianti254 – 2541S → L in GSD2. 1 Publication
    VAR_068579
    Natural varianti262 – 2621E → K in GSD2; infantile; severe. 3 Publications
    Corresponds to variant rs201896815 [ dbSNP | Ensembl ].
    VAR_029028
    Natural varianti266 – 2661P → S in GSD2. 1 Publication
    VAR_068580
    Natural varianti271 – 2711T → A.1 Publication
    VAR_068581
    Natural varianti285 – 2851P → R in GSD2; juvenile form; mild; partial loss of activity. 1 Publication
    VAR_018080
    Natural varianti285 – 2851P → S in GSD2. 1 Publication
    VAR_068582
    Natural varianti290 – 2901N → D.1 Publication