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P10253

- LYAG_HUMAN

UniProt

P10253 - LYAG_HUMAN

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Protein

Lysosomal alpha-glucosidase

Gene

GAA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
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
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: UniProtKB
  2. lysosomal membrane Source: UniProtKB
  3. lysosome Source: BHF-UCL
  4. membrane Source: UniProtKB
Complete GO annotation...

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. 1 Publication
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. 1 Publication
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. 1 Publication
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

BgeeiP10253.
CleanExiHS_GAA.
ExpressionAtlasiP10253. baseline and differential.
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.
GeneTreeiENSGT00760000119229.
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 [UniParc]FASTAAdd to Basket

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        10         20         30         40         50
MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE
60 70 80 90 100
ETHPAHQQGA SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ
110 120 130 140 150
EQCEARGCCY IPAKQGLQGA QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA
160 170 180 190 200
TLTRTTPTFF PKDILTLRLD VMMETENRLH FTIKDPANRR YEVPLETPHV
210 220 230 240 250
HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF FADQFLQLST
260 270 280 290 300
SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
310 320 330 340 350
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV
360 370 380 390 400
VQQYLDVVGY PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV
410 420 430 440 450
QWNDLDYMDS RRDFTFNKDG FRDFPAMVQE LHQGGRRYMM IVDPAISSSG
460 470 480 490 500
PAGSYRPYDE GLRRGVFITN ETGQPLIGKV WPGSTAFPDF TNPTALAWWE
510 520 530 540 550
DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN PPYVPGVVGG
560 570 580 590 600
TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
610 620 630 640 650
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL
660 670 680 690 700
GNTSEELCVR WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT
710 720 730 740 750
LRYALLPHLY TLFHQAHVAG ETVARPLFLE FPKDSSTWTV DHQLLWGEAL
760 770 780 790 800
LITPVLQAGK AEVTGYFPLG TWYDLQTVPV EALGSLPPPP AAPREPAIHS
810 820 830 840 850
EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP MALAVALTKG
860 870 880 890 900
GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
910 920 930 940 950
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS

WC
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