GAA

alpha glucosidase
General Information
Name alpha glucosidase
Alias
  • lysosomal alpha-glucosidase
  • acid maltase
  • aglucosidase alfa
  • glucosidase alpha, acid
Synonyms LYAG
Gene_family Glycoside hydrolase family 31
organism Homo sapiens
entrez_id 2548
location 17q25.3
transcript_count 7
exon_count 21
Location
by NCBI GRCh38.p14
    Summary
      Entrez This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
      Stringdb Lysosomal alpha-glucosidase; Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans
      nextProt Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).
    Interactions
    NCBI
    A A.Source B B.DB B.Source Description PubMed
    GAA BioGRID ORF3a GeneID BioGRID Proximity Label-MS
    GAA BioGRID RPA2 GeneID BioGRID Proximity Label-MS
    GAA BioGRID TRIM67 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ZRANB1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID HSPA8 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID TMEM192 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID RAB2A GeneID BioGRID Two-hybrid
    GAA BioGRID TMPRSS4 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CNTNAP3B GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LRRC24 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID METRNL GeneID BioGRID Affinity Capture-MS
    GAA BioGRID B4GALNT3 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID HSPA5 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID HLA-C GeneID BioGRID Affinity Capture-MS
    GAA BioGRID B4GALT1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID EXT2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID EXT1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CLGN GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ENTPD6 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CANX GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SLC25A4 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ADAM10 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID PLD6 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID DHFR2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MANEAL GeneID BioGRID Affinity Capture-MS
    GAA BioGRID DCBLD2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID NDUFA11 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SLC38A10 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LARGE2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CHST14 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID RDH13 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID POMGNT2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SPRTN GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LMAN2L GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CNTNAP3 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LRFN3 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID POGLUT2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID METRN GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ENTPD7 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID POGLUT1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID DNAJC11 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CHST12 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID PARL GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CLN6 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID TMEM132A GeneID BioGRID Affinity Capture-MS
    GAA BioGRID TMCO1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CHPF2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID FBXO2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID B3GAT3 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID NOMO1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID DNAJC16 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID GANAB GeneID BioGRID Affinity Capture-MS
    GAA BioGRID B4GALT7 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MAN1B1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID NXPH4 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID KDELR2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CNPY3 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SEMA6B GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LRIG2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID RPL23 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CRLF1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MBTPS1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID GALNT4 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID HYAL2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SGCB GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MSMO1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID PPOX GeneID BioGRID Affinity Capture-MS
    GAA BioGRID PAM GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ROR2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MGAT5 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MFGE8 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MAN2A1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID MAN2A2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SMAD4 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID JAG2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ITGAV GeneID BioGRID Affinity Capture-MS
    GAA BioGRID IGF2R GeneID BioGRID Affinity Capture-MS
    GAA BioGRID HSPG2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID TP53 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID CREBBP GeneID BioGRID Two-hybrid
    GAA BioGRID BCAR1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SH2D3C GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LMBR1L GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ESR2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID DYNC1LI2 GeneID BioGRID Two-hybrid
    GAA BioGRID PARD3B GeneID BioGRID Two-hybrid
    GAA BioGRID SH3GLB2 GeneID BioGRID Two-hybrid
    GAA BioGRID CPEB2 GeneID BioGRID Two-hybrid
    GAA BioGRID TMEM39A GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LARGE1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID GALNT7 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID SLC25A6 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID FOXI2 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID ATP5IF1 GeneID BioGRID Co-fractionation
    GAA BioGRID CHID1 GeneID BioGRID Co-fractionation
    GAA BioGRID MRPL9 GeneID BioGRID Co-fractionation
    GAA BioGRID PMPCA GeneID BioGRID Co-fractionation
    GAA BioGRID UQCRFS1 GeneID BioGRID Co-fractionation
    GAA BioGRID NTRK1 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID LDHB GeneID BioGRID Co-fractionation
    GAA BioGRID LDHA GeneID BioGRID Co-fractionation
    GAA BioGRID HSPA9 GeneID BioGRID Co-fractionation
    GAA BioGRID GOT1 GeneID BioGRID Co-fractionation
    GAA BioGRID ESD GeneID BioGRID Co-fractionation
    GAA BioGRID NUMBL GeneID BioGRID Two-hybrid
    GAA BioGRID STAT2 GeneID BioGRID Two-hybrid
    GAA BioGRID HIVEP1 GeneID BioGRID Two-hybrid
    GAA BioGRID EP300 GeneID BioGRID Two-hybrid
    GAA BioGRID SYNCRIP GeneID BioGRID Co-fractionation
    GAA BioGRID MTHFD1 GeneID BioGRID Co-fractionation
    GAA BioGRID ILF3 GeneID BioGRID Co-fractionation
    GAA BioGRID HNRNPK GeneID BioGRID Co-fractionation
    GAA BioGRID CDH2 GeneID BioGRID Co-fractionation
    GAA BioGRID CALU GeneID BioGRID Co-fractionation
    GAA BioGRID FBXO6 GeneID BioGRID Affinity Capture-MS
    GAA BioGRID NCF1 GeneID BioGRID Two-hybrid
    GAA Protein NCF1 GeneID HPRD None
    StringDB
    A B experiments database textmining combined score hadb nhadb
    GAA AMPD1 0 0 154 164 1 1
    GAA DBH 0 0 0 366 1 1
    GAA PRSS58 0 0 0 244 1 1
    GAA ATG7 0 0 136 223 1 2
    GAA DMD 0 0 283 314 1 1
    GAA SPACA3 0 0 0 357 1 1
    GAA ALDH1B1 0 0 0 348 1 1
    GAA GOT2 0 0 90 464 1 1
    GAA GNAI1 0 0 0 163 1 1
    GAA LCAT 0 0 0 220 1 1
    GAA G6PD 0 0 123 329 1 1
    GAA TRIM32 0 0 95 341 1 1
    GAA APMAP 0 0 181 232 1 1
    GAA VTI1B 0 0 89 164 1 2
    GAA CTSD 0 0 181 305 1 2
    GAA NDUFS2 0 0 134 153 1 1
    GAA M6PR 0 0 285 284 1 1
    GAA FKBP2 0 0 0 162 1 1
    GAA UBA52 0 0 119 254 1 1
    GAA MAPK14 0 0 0 152 1 1
    GAA CFL1 0 0 0 174 1 1
    GAA TXNDC2 0 0 0 166 1 1
    GAA MGEA5 0 0 150 169 1 1
    GAA GBA2 0 0 293 330 1 1
    GAA MAP3K3 0 0 0 184 1 1
    GAA LDHA 272 0 0 294 1 1
    GAA NME8 0 0 0 223 1 1
    GAA PCBD2 0 0 0 191 1 1
    GAA DNAAF2 0 0 48 258 1 1
    GAA DAK 0 0 0 197 1 1
    GAA SLC9C2 0 0 0 157 1 1
    GAA TXN2 0 0 0 166 1 1
    GAA PLBD1 0 0 0 313 1 1
    GAA MAPK7 0 0 0 165 1 1
    GAA PRKAG2 0 0 181 181 1 1
    GAA ENSG00000241489 0 0 0 165 1 1
    GAA GBE1 0 0 337 503 1 1
    GAA UGGT2 0 0 0 303 1 1
    GAA PDIA5 0 0 0 166 1 1
    GAA ARSK 0 0 0 169 1 1
    GAA PPT1 0 0 96 171 1 1
    GAA UGGT1 0 0 0 303 1 1
    GAA ATG5 0 0 134 188 1 2
    GAA TXNDC5 0 0 0 166 1 1
    GAA ZFP36L1 0 0 0 184 1 1
    GAA KIAA0586 0 0 164 163 1 1
    GAA MGAT1 0 0 44 155 1 1
    GAA HNRNPDL 0 0 71 637 1 1
    GAA ANO5 0 0 243 242 1 1
    GAA COQ3 0 0 0 158 1 1
    GAA AMDHD2 0 0 0 185 1 1
    GAA HNRNPK 271 0 0 286 1 1
    GAA SETD2 0 0 0 159 1 1
    GAA GNPTG 0 0 0 421 1 1
    GAA NOMO1 0 0 218 259 1 1
    GAA SOD3 0 0 0 310 1 1
    GAA ALDH4A1 0 0 0 200 1 1
    GAA HHAT 0 0 0 176 1 1
    GAA ERP27 0 0 0 166 1 1
    GAA WDFY4 0 0 0 170 1 1
    GAA AGL 0 0 460 810 1 1
    GAA ATP2B1 0 0 0 572 1 1
    GAA MAN2B1 0 0 261 648 1 1
    GAA YWHAZ 0 0 0 188 1 1
    GAA G6PC2 0 0 0 450 1 1
    GAA ENSG00000257767 0 0 0 348 1 1
    GAA FKBP10 0 0 0 162 1 1
    GAA CCBL1 0 0 0 185 1 1
    GAA ADAM15 0 0 0 153 1 1
    GAA HSPA5 0 0 0 157 1 2
    GAA TUSC3 0 0 0 284 1 1
    GAA CBLN1 0 0 113 205 1 1
    GAA TKT 0 0 0 392 1 1
    GAA SYNCRIP 271 0 0 271 1 1
    GAA PGD 0 0 0 154 1 1
    GAA DNAJB6 0 0 181 257 1 1
    GAA GYS1 0 0 293 349 1 1
    GAA PRKCSH 0 0 0 450 1 1
    GAA ADCY10 0 0 139 171 1 1
    GAA ALDH1A1 0 0 0 348 1 1
    GAA PGLS 0 0 0 162 1 1
    GAA TMX4 0 0 0 166 1 1
    GAA POMT2 0 0 155 427 1 1
    GAA ABCB1 0 0 47 267 1 1
    GAA ENSG00000259040 0 0 0 166 1 1
    GAA ORAI3 0 0 113 174 1 1
    GAA GNAO1 0 0 0 182 1 1
    GAA MAPK11 0 0 0 184 1 1
    GAA ANKRD45 0 0 0 157 1 1
    GAA DNAJC10 0 0 0 265 1 1
    GAA ATP1A1 0 0 0 196 1 1
    GAA AMY2B 0 650 601 871 1 1
    GAA NAAA 0 0 0 187 1 1
    GAA ST6GAL2 0 0 160 217 1 1
    GAA GNAI3 0 0 134 244 1 2
    GAA UGP2 0 0 243 305 1 1
    GAA MAN2A2 130 0 0 381 1 1
    GAA PDIA3 0 0 0 166 1 1
    GAA OTC 0 0 140 202 1 1
    GAA FKBP9 0 0 0 410 1 1
    GAA CAV3 0 0 245 296 1 1
    GAA PPP1R3A 0 0 181 317 1 1
    GAA GNA15 0 0 0 158 1 1
    GAA GYG1 0 900 406 942 1 1
    GAA HSPA1B 0 0 0 159 1 1
    GAA BZW1 0 0 171 171 1 1
    GAA GMPPB 0 0 195 438 1 1
    GAA CTSZ 0 0 90 226 1 1
    GAA PDIA6 0 0 0 166 1 1
    GAA ENPP1 0 0 0 169 1 1
    GAA ASAH1 0 0 139 501 1 1
    GAA HSPA4L 0 0 0 157 1 1
    GAA B4GALT2 130 0 0 151 1 1
    GAA MAPK15 0 0 0 153 1 2
    GAA SFN 0 0 0 188 1 1
    GAA POGLUT1 130 0 57 168 1 1
    GAA GUSB 0 0 193 303 1 1
    GAA FABP4 0 0 0 174 1 1
    GAA NME9 0 0 0 209 1 1
    GAA TCN1 0 0 0 199 1 1
    GAA C8orf82 0 0 0 194 1 1
    GAA B3GAT3 183 0 0 206 1 1
    GAA IDS 0 0 280 373 1 1
    GAA PEPD 0 0 0 521 1 1
    GAA PGM3 0 0 112 155 1 1
    GAA SMPD1 0 0 123 187 1 1
    GAA PDIA4 0 0 0 166 1 1
    GAA FBP1 0 0 75 193 1 1
    GAA COL9A2 0 0 0 187 1 1
    GAA COPA 0 0 0 164 1 1
    GAA LRRC24 130 0 0 151 1 1
    GAA CKB 0 0 127 392 1 1
    GAA ABCB4 0 0 0 159 1 1
    GAA ACO1 0 0 0 212 1 1
    GAA TKTL2 0 0 0 392 1 1
    GAA YWHAH 0 0 0 188 1 1
    GAA PDILT 0 0 0 166 1 1
    GAA ERO1LB 0 0 0 239 1 1
    GAA GPI 0 0 134 193 1 1
    GAA APOD 0 0 140 172 1 1
    GAA MAP3K19 0 0 0 166 1 1
    GAA PORCN 0 0 103 157 1 1
    GAA ACCSL 0 0 0 193 1 1
    GAA TXNDC9 0 0 0 166 1 1
    GAA XPNPEP3 0 0 0 179 1 1
    GAA HEXA 0 0 180 538 1 1
    GAA CRAT 0 0 0 189 1 1
    GAA TMED9 0 0 206 241 1 1
    GAA HSPA12A 0 0 166 269 1 1
    GAA DGAT2 0 0 135 160 1 1
    GAA YWHAB 0 0 0 188 1 1
    GAA TM6SF2 0 0 43 221 1 1
    GAA ETFDH 0 0 126 169 1 1
    GAA SLC2A4 0 0 122 173 1 1
    GAA DNAJC5 0 0 0 162 1 1
    GAA PIGO 0 0 0 151 1 1
    GAA PIK3C2A 0 0 180 201 1 2
    GAA GDA 0 0 342 357 1 1
    GAA VPS37D 0 0 0 187 1 1
    GAA ESD 272 0 0 561 1 1
    GAA YY1 0 0 308 307 1 1
    GAA ANPEP 0 0 203 260 1 1
    GAA LDHB 272 0 43 295 1 1
    GAA RRAGA 0 0 150 211 1 2
    GAA H6PD 0 0 81 189 1 1
    GAA ATHL1 0 0 0 220 1 1
    GAA FABP2 0 0 0 167 1 1
    GAA LPHN3 0 0 167 176 1 1
    GAA AQPEP 0 0 0 155 1 1
    GAA ALPP 0 0 406 430 1 1
    GAA SDF2 0 0 0 203 1 1
    GAA SLC25A26 0 0 0 194 1 1
    GAA CYP8B1 0 0 0 158 1 1
    GAA WDTC1 0 0 0 206 1 1
    GAA HSPH1 0 0 0 157 1 1
    GAA ATP2A3 0 0 0 649 1 1
    GAA UQCRFS1 272 0 0 305 1 1
    GAA AKT1 0 0 61 169 1 2
    GAA DYSF 0 0 166 303 1 1
    GAA VMA21 0 0 0 167 1 1
    GAA FKRP 0 0 224 306 1 1
    GAA GGT1 0 0 150 212 1 1
    GAA GYS2 0 0 261 342 1 1
    GAA WDR81 0 0 67 173 1 1
    GAA ENSG00000274276 0 0 66 230 1 1
    GAA NDOR1 0 0 0 159 1 1
    GAA MEP1B 0 0 52 271 1 1
    GAA IGF2R 0 0 161 179 1 1
    GAA MGAM 0 900 804 907 1 1
    GAA CLCA1 0 0 0 258 1 1
    GAA FUCA1 0 0 134 255 1 1
    GAA TMEM5 0 0 113 175 1 1
    GAA MAP3K1 0 0 0 166 1 1
    GAA MRPL9 272 0 0 272 1 1
    GAA PHYKPL 0 0 0 197 1 1
    GAA DSTN 0 0 0 150 1 1
    GAA P4HA1 0 0 91 237 1 1
    GAA TOR4A 0 0 325 325 1 1
    GAA P4HA3 0 0 0 195 1 1
    GAA GPT 0 0 108 450 1 1
    GAA ERGIC1 0 0 0 165 1 1
    GAA SIAE 0 0 280 559 1 1
    GAA TAS1R1 0 0 0 190 1 1
    GAA VPS37A 0 0 0 169 1 1
    GAA SLC2A8 0 0 108 188 1 1
    GAA CTRC 0 0 120 664 1 1
    GAA CLGN 0 0 0 354 1 1
    GAA MEP1A 0 0 55 267 1 1
    GAA ALDH9A1 0 0 0 267 1 1
    GAA WDFY3 0 0 0 170 1 2
    GAA CHID1 272 0 0 292 1 1
    GAA LIPF 0 0 156 536 1 1
    GAA C11orf85 0 0 108 160 1 1
    GAA SDF2L1 0 0 0 203 1 1
    GAA PCBD1 0 0 0 168 1 1
    GAA TAS1R2 0 0 0 190 1 1
    GAA MAP3K14 0 0 0 166 1 1
    GAA TFRC 0 0 94 154 1 1
    GAA GOT1L1 0 0 0 209 1 1
    GAA LAMC1 0 0 74 274 1 1
    GAA NAGA 0 0 260 526 1 1
    GAA PIGG 0 0 0 151 1 1
    GAA SLC3A1 0 0 0 294 1 1
    GAA IREB2 0 0 0 212 1 1
    GAA PGAP1 0 0 0 262 1 1
    GAA CBSL 0 0 66 230 1 1
    GAA SRSF4 0 0 113 234 1 1
    GAA PHKA1 0 0 195 195 1 1
    GAA AMY2A 0 650 663 891 1 1
    GAA SDHAF1 0 0 0 167 1 1
    GAA ALDH7A1 0 0 0 516 1 1
    GAA GGT7 0 0 265 350 1 1
    GAA VAPB 0 0 0 157 1 1
    GAA CHIA 0 0 0 434 1 1
    GAA GNAI2 0 0 0 185 1 1
    GAA ZFP36L2 0 0 0 184 1 1
    GAA PLBD2 0 0 234 644 1 1
    GAA LCT 0 0 541 596 1 1
    GAA HSPA13 0 0 0 157 1 1
    GAA XYLB 0 0 0 178 1 1
    GAA DMPK 0 0 0 150 1 1
    GAA HSPA2 0 0 0 159 1 1
    GAA NHLRC1 0 0 205 223 1 1
    GAA CAT 0 0 0 352 1 1
    GAA GLB1L 0 0 0 153 1 1
    GAA TESK1 0 0 0 161 1 1
    GAA FH 0 0 66 512 1 1
    GAA TXN 0 0 0 166 1 1
    GAA CANX 0 0 0 354 1 2
    GAA ALDH5A1 0 0 0 219 1 1
    GAA C15orf43 0 0 103 176 1 1
    GAA AMY1A 0 0 601 648 1 1
    GAA BCAT2 0 0 0 191 1 1
    GAA UXS1 0 0 0 150 1 1
    GAA EPDR1 0 0 284 355 1 1
    GAA ALPL 0 0 269 298 1 1
    GAA GNB2L1 0 0 0 160 1 1
    GAA CHIT1 0 0 170 534 1 1
    GAA CHORDC1 0 0 167 167 1 1
    GAA ISPD 0 0 67 170 1 1
    GAA DNAJB2 0 0 0 182 1 1
    GAA ATP2A2 0 0 0 491 1 1
    GAA PPP1R3G 0 0 90 183 1 1
    GAA GBA 0 0 202 369 1 1
    GAA ALDH2 0 0 0 348 1 1
    GAA PPP1R3B 0 0 210 262 1 1
    GAA AGXT 0 0 0 509 1 1
    GAA VPS37B 0 0 0 169 1 1
    GAA HEXB 0 0 166 449 1 1
    GAA ATP2B2 0 0 0 561 1 1
    GAA TMX3 0 0 0 411 1 1
    GAA PDLIM7 130 0 0 155 1 1
    GAA ABCB5 0 0 0 159 1 1
    GAA VNN2 0 0 0 276 1 1
    GAA NCF1 192 0 0 192 1 1
    GAA HK3 0 650 0 676 1 1
    GAA TXNDC11 0 0 0 184 1 1
    GAA UBE2I 0 0 0 158 1 1
    GAA LIPA 0 0 94 311 1 1
    GAA MYOZ2 0 0 142 174 1 1
    GAA GSTA1 0 0 101 158 1 1
    GAA GALM 0 0 0 174 1 1
    GAA ENPP5 0 0 0 169 1 1
    GAA HSPA9 272 0 0 360 1 1
    GAA UBL4A 0 0 144 209 1 1
    GAA PGC 0 0 93 393 1 1
    GAA YWHAQ 0 0 48 193 1 1
    GAA ATPIF1 681 0 0 681 1 1
    GAA STBD1 0 0 391 451 1 2
    GAA IDUA 0 0 123 261 1 1
    GAA GLB1 0 0 686 734 1 1
    GAA SGCB 0 0 167 444 1 1
    GAA MAP3K11 0 0 0 161 1 1
    GAA SLC3A2 0 0 0 294 1 1
    GAA DPP4 0 0 227 244 1 1
    GAA BCHE 0 0 141 155 1 1
    GAA PNO1 0 0 172 171 1 1
    GAA MFSD12 0 0 0 206 1 1
    GAA NIT2 0 0 0 177 1 1
    GAA ATP2A1 0 0 57 640 1 1
    GAA LOC93432 0 900 220 906 1 1
    GAA HSPA14 0 0 0 157 1 1
    GAA ALDH3A2 0 0 0 153 1 1
    GAA YWHAG 0 0 0 188 1 1
    GAA PLA2G10 0 0 0 299 1 1
    GAA HYOU1 0 0 75 217 1 1
    GAA EPM2A 0 0 370 404 1 1
    GAA SDSL 0 0 0 152 1 1
    GAA CLCN1 0 0 138 150 1 1
    GAA CLCA4 0 0 0 258 1 1
    GAA PLD3 0 0 108 240 1 1
    GAA CLUH 0 0 0 269 1 1
    GAA CALU 271 0 0 290 1 1
    GAA HKDC1 0 650 0 664 1 1
    GAA AGXT2 0 0 0 511 1 1
    GAA ENPP2 0 0 0 169 1 1
    GAA PIP5K1C 0 0 0 150 1 1
    GAA ERO1L 0 0 0 239 1 1
    GAA GGH 0 0 94 158 1 1
    GAA AMBP 0 0 130 180 1 1
    GAA SEC63 0 0 0 160 1 1
    GAA CELA2A 0 0 0 216 1 1
    GAA ALB 0 0 193 234 1 1
    GAA CD68 0 0 0 181 1 1
    GAA MAGT1 0 0 0 284 1 1
    GAA ENPEP 0 0 134 282 1 1
    GAA TXNDC16 0 0 0 166 1 1
    GAA PMP2 0 0 0 168 1 1
    GAA MOXD1 0 0 0 256 1 1
    GAA CKMT2 0 0 0 213 1 1
    GAA TMX1 0 0 0 166 1 1
    GAA MFSD2A 0 0 0 165 1 1
    GAA HSPA4 0 0 55 170 1 1
    GAA TAT 0 0 0 182 1 1
    GAA GGT6 0 0 263 331 1 1
    GAA ATP2C2 0 0 49 317 1 1
    GAA MAN2B2 0 0 74 374 1 1
    GAA GGA1 0 0 108 187 1 1
    GAA ALDH1L1 0 0 0 160 1 1
    GAA ACP2 0 0 137 203 1 1
    GAA HK1 0 650 0 669 1 1
    GAA TREH 0 0 392 496 1 1
    GAA ENPP7 0 0 0 161 1 1
    GAA SLC25A17 0 0 0 158 1 1
    GAA LIPJ 0 0 75 161 1 1
    GAA AKR1B1 0 0 180 194 1 1
    GAA GNAZ 0 0 0 163 1 1
    GAA GGT5 0 0 215 269 1 1
    GAA PYGM 0 0 390 469 1 1
    GAA PGAP2 0 0 0 175 1 1
    GAA LAMP5 0 0 0 161 1 1
    GAA HSPA6 0 0 0 177 1 1
    GAA TRAPPC11 0 0 203 378 1 1
    GAA HIBADH 0 0 0 169 1 1
    GAA GRINA 0 0 0 155 1 1
    GAA XPNPEP2 0 0 0 179 1 1
    GAA LAMP2 0 0 457 655 1 2
    GAA YWHAE 0 0 0 188 1 1
    GAA SUMF2 0 0 0 157 1 1
    GAA ALDH16A1 0 0 0 242 1 1
    GAA GRN 0 0 0 215 1 1
    GAA ATP2B3 0 0 0 657 1 1
    GAA LAMP3 0 0 0 161 1 1
    GAA SULF1 0 0 0 169 1 1
    GAA ELOVL6 0 0 0 212 1 1
    GAA SOD1 0 0 46 372 1 1
    GAA ENPP6 0 0 0 161 1 1
    GAA CFL2 0 0 0 150 1 1
    GAA FKBP14 0 0 0 162 1 1
    GAA GLB1L3 0 0 0 153 1 1
    GAA TCIRG1 0 0 0 164 1 1
    GAA CPEB2 192 0 0 192 1 1
    GAA WFDC2 0 0 0 188 1 1
    GAA ARSA 0 0 140 249 1 2
    GAA ALG6 0 0 0 208 1 1
    GAA PLA2G15 0 0 47 418 1 1
    GAA SGSH 0 0 151 250 1 1
    GAA TK1 0 0 397 415 1 1
    GAA TM6SF1 0 0 0 220 1 1
    GAA CYP7A1 0 0 52 567 1 1
    GAA KCTD21 0 0 90 152 1 1
    GAA ALDH1A3 0 0 0 257 1 2
    GAA ALPPL2 0 0 454 476 1 1
    GAA KMO 0 0 0 152 1 1
    GAA MANBA 0 0 277 436 1 1
    GAA HSPA1A 0 0 0 186 1 1
    GAA ALG8 0 0 0 208 1 1
    GAA ZFP36 0 0 0 207 1 1
    GAA PARD3B 204 0 0 204 1 1
    GAA TPP1 0 0 171 280 1 1
    GAA WDR31 0 0 0 158 1 1
    GAA SI 0 900 845 907 1 1
    GAA PYGB 0 0 270 383 1 1
    GAA VPS37C 0 0 0 417 1 1
    GAA ERGIC3 0 0 0 165 1 1
    GAA CTDSP2 0 0 134 150 1 1
    GAA MAN2A1 0 0 0 248 1 1
    GAA TFEB 0 0 177 195 1 2
    GAA LARGE 186 0 0 246 1 1
    GAA PDIA2 0 0 0 166 1 1
    GAA ALDOB 0 0 167 186 1 1
    GAA PRSS1 0 0 53 157 1 1
    GAA DES 0 0 180 179 1 1
    GAA NPEPL1 0 0 0 378 1 1
    GAA INS 0 0 166 197 1 1
    GAA ALDH3A1 0 0 0 153 1 1
    GAA CKMT1A 0 0 0 213 1 1
    GAA GOT1 272 0 0 445 1 1
    GAA MTHFD1 458 0 0 457 1 1
    GAA AMY1C 0 0 166 266 1 1
    GAA TKTL1 0 0 0 355 1 1
    GAA MAPK3 0 0 0 168 1 2
    GAA DPP7 0 0 231 575 1 1
    GAA SLC37A4 0 0 283 323 1 1
    GAA SQSTM1 0 0 112 177 1 2
    GAA ERP44 0 0 0 166 1 1
    GAA GANC 0 0 210 311 1 1
    GAA HSPA8 0 0 0 159 1 2
    GAA GPAA1 0 0 181 229 1 1
    GAA MOSPD3 0 0 0 182 1 1
    GAA FABP5 0 0 0 190 1 1
    GAA LIMS2 0 0 161 178 1 1
    GAA GNA12 0 0 0 163 1 1
    GAA CKM 0 0 0 303 1 1
    GAA SAT2 0 0 213 262 1 1
    GAA PPP1R3D 0 0 211 228 1 1
    GAA GLB1L2 0 0 0 153 1 1
    GAA ENSG00000269590 0 0 0 463 1 1
    GAA LCTL 0 0 0 157 1 1
    GAA GABARAPL1 0 0 98 150 1 2
    GAA LYZ 0 0 70 282 1 1
    GAA GNA13 0 0 0 163 1 1
    GAA MAP3K2 0 0 0 168 1 1
    GAA B4GALNT3 129 0 0 183 1 1
    GAA ALDH3B1 0 0 0 153 1 1
    GAA FABP6 0 0 0 212 1 1
    GAA HHATL 0 0 0 176 1 1
    GAA P4HTM 0 0 0 430 1 1
    GAA DYNC1LI2 204 0 0 222 1 1
    GAA MAN2C1 0 0 64 239 1 1
    GAA VNN1 0 0 0 276 1 1
    GAA MOSPD1 0 0 0 157 1 1
    GAA EPM2AIP1 0 0 98 154 1 1
    GAA GNE 0 0 0 177 1 1
    GAA CELA2B 0 0 0 216 1 1
    GAA XPNPEP1 0 0 0 179 1 1
    GAA NUDT14 0 0 229 257 1 1
    GAA GLA 0 900 413 977 1 1
    GAA LAP3 0 0 324 596 1 1
    GAA MAN1B1 0 0 134 217 1 1
    GAA UPB1 0 0 0 217 1 1
    GAA LRG1 0 0 202 219 1 1
    GAA GANAB 0 0 292 314 1 1
    GAA DCAF6 0 0 0 190 1 1
    GAA KCTD5 0 0 81 164 1 1
    GAA BTD 0 0 0 398 1 1
    GAA SGCD 0 0 102 361 1 1
    GAA POMT1 0 0 150 460 1 1
    GAA PYGL 0 0 216 318 1 1
    GAA GCK 0 0 96 313 1 1
    GAA SULF2 0 0 0 194 1 1
    GAA ATXN1 0 0 0 181 1 1
    GAA CTSL 0 0 75 162 1 1
    GAA DOK7 0 0 167 167 1 1
    GAA PPP1R3E 0 0 103 222 1 1
    GAA GALNT4 195 0 0 195 1 1
    GAA MOGS 0 0 146 376 1 1
    GAA FKBP8 0 0 0 185 1 1
    GAA ALPI 0 0 459 481 1 1
    GAA P4HA2 0 0 0 195 1 1
    GAA USP45 0 0 57 172 1 1
    GAA ALDH1A2 0 0 0 348 1 1
    GAA UMOD 0 0 216 216 1 1
    GAA MBOAT2 0 0 260 260 1 1
    GAA LIPM 0 0 89 307 1 1
    GAA SH3GLB2 204 0 0 259 1 1
    GAA ATP13A1 0 0 0 197 1 1
    GAA NPEPPS 0 0 0 160 1 1
    GAA CCBL2 0 0 0 182 1 1
    GAA HES1 0 0 602 602 1 1
    GAA ALDH3B2 0 0 0 153 1 1
    GAA VNN3 0 0 0 276 1 1
    GAA LPCAT1 0 0 0 155 1 1
    GAA ABAT 0 0 0 510 1 1
    GAA PLEC 0 0 108 202 1 1
    GAA UGDH 0 0 183 234 1 1
    GAA PSAP 0 0 123 183 1 1
    GAA GCKR 0 0 181 210 1 1
    GAA PRCP 0 0 150 361 1 1
    GAA HSPA1L 0 0 0 159 1 1
    GAA ACCS 0 0 0 222 1 1
    GAA ACO2 0 0 0 512 1 1
    GAA TNFRSF17 0 0 0 161 1 1
    GAA ETNPPL 0 0 0 197 1 1
    GAA RGS8 0 0 158 164 1 1
    GAA LMBR1L 270 0 0 285 1 1
    GAA FKBP11 0 0 0 162 1 1
    GAA FUCA2 0 0 207 290 1 1
    GAA TNPO3 0 0 134 530 1 1
    GAA PNLIPRP1 0 0 0 224 1 1
    GAA POR 0 0 0 173 1 1
    GAA ALDH8A1 0 0 0 257 1 1
    GAA FKBP7 0 0 0 162 1 1
    GAA PFKM 0 0 219 259 1 1
    GAA TTN 0 0 117 207 1 1
    GAA SOAT1 0 0 0 250 1 1
    GAA MEX3A 0 0 0 205 1 1
    GAA MTO1 0 0 0 165 1 1
    GAA MFSD2B 0 0 0 165 1 1
    GAA LMF2 0 0 0 157 1 1
    GAA GCDH 0 0 193 210 1 1
    GAA KIAA1161 0 0 0 156 1 1
    GAA GALNS 0 0 206 270 1 1
    GAA NPC1 0 0 145 319 1 2
    GAA PPP1R3C 0 0 174 192 1 1
    GAA G6PC 0 0 241 564 1 1
    GAA SOAT2 0 0 0 250 1 1
    GAA ENPP4 0 0 0 169 1 1
    GAA OFD1 0 0 0 250 1 1
    GAA GNAT3 0 0 0 163 1 1
    GAA CYP7B1 0 0 0 386 1 1
    GAA P4HB 0 0 0 209 1 2
    GAA GPT2 0 0 0 384 1 1
    GAA MTFMT 0 0 62 333 1 1
    GAA VAPA 0 0 0 157 1 1
    GAA AMY1B 0 650 166 732 1 1
    GAA TPI1 0 0 0 521 1 1
    GAA GNAT2 0 0 0 163 1 1
    GAA CKMT1B 0 0 0 213 1 1
    GAA LAMA5 0 0 83 152 1 1
    GAA DGAT1 0 0 113 331 1 1
    GAA GNS 0 0 62 431 1 1
    GAA KLB 0 0 0 153 1 1
    GAA CPQ 0 0 122 370 1 1
    GAA CAPN3 0 0 233 310 1 1
    GAA TXNDC8 0 0 0 166 1 1
    GAA ENPP3 0 0 0 169 1 1
    GAA RBP2 0 0 0 188 1 1
    GAA PMPCA 272 0 0 293 1 1
    GAA PIGN 0 0 0 151 1 1
    GAA GALNT7 289 0 0 288 1 1
    GAA ERGIC2 0 0 0 165 1 1
    GAA GCAT 0 0 55 153 1 1
    GAA ARSB 0 0 171 320 1 2
    GAA CDH2 271 0 0 271 1 1
    GAA GNAT1 0 0 0 163 1 1
    GAA HSPA12B 0 0 60 174 1 1
    GAA ATP2B4 0 0 0 448 1 1
    GAA ALDH1L2 0 0 0 160 1 1
    GAA HK2 0 650 0 664 1 1
    GAA GYG2 0 0 134 190 1 1
    GAA SFXN1 0 0 163 173 1 1
    GAA MYOT 0 0 203 311 1 1
    GAA PCDH12 0 0 0 222 1 1
    GAA LAMB2 0 0 67 172 1 1
    GAA SUMF1 0 0 100 448 1 1
    GAA NME3 0 0 0 150 1 1
    GAA PAM 130 0 0 152 1 1
    GAA CTSA 0 0 143 311 1 1
    GAA PNLIP 0 0 258 400 1 1
    GAA PCDHGA12 0 0 0 216 1 1
    GAA TALDO1 0 0 0 589 1 1
    GAA B4GALT7 130 0 0 162 1 1
    GAA SGCG 0 0 165 304 1 1
    GAA ATP2C1 0 0 0 649 1 1
    GAA CGA 0 0 103 592 1 1
    GAA LAMP1 0 0 150 299 1 2
    GAA SLC2A1 0 0 103 155 1 1
    Ontologies
    ID Category Term Effect Evidence PubMed
    GO:0004558 Molecular Function alpha-1,4-glucosidase activity enables IBA
    GO:0004558 Molecular Function alpha-1,4-glucosidase activity enables IDA
    GO:0090599 Molecular Function alpha-glucosidase activity enables EXP
    GO:0090599 Molecular Function alpha-glucosidase activity enables TAS
    GO:0030246 Molecular Function carbohydrate binding enables IEA
    GO:0035904 Biological Process aorta development involved_in IEA
    GO:0060048 Biological Process cardiac muscle contraction involved_in IMP
    GO:0002086 Biological Process diaphragm contraction involved_in IMP
    GO:0006006 Biological Process glucose metabolic process involved_in IC
    GO:0005980 Biological Process glycogen catabolic process involved_in IBA
    GO:0005980 Biological Process glycogen catabolic process involved_in IDA
    GO:0005980 Biological Process glycogen catabolic process involved_in TAS
    GO:0061723 Biological Process glycophagy involved_in IEA
    GO:0003007 Biological Process heart morphogenesis involved_in IEA
    GO:0007626 Biological Process locomotory behavior involved_in IEA
    GO:0007040 Biological Process lysosome organization involved_in IBA
    GO:0007040 Biological Process lysosome organization involved_in IMP
    GO:0000023 Biological Process maltose metabolic process involved_in IC
    GO:0046716 Biological Process muscle cell cellular homeostasis involved_in IEA
    GO:0050885 Biological Process neuromuscular process controlling balance involved_in IEA
    GO:0050884 Biological Process neuromuscular process controlling posture involved_in IEA
    GO:0002026 Biological Process regulation of the force of heart contraction involved_in IEA
    GO:0005985 Biological Process sucrose metabolic process involved_in IC
    GO:0009888 Biological Process tissue development involved_in IEA
    GO:0043181 Biological Process vacuolar sequestering involved_in IMP
    GO:0120282 Cellular Component autolysosome lumen located_in IEA
    GO:0035577 Cellular Component azurophil granule membrane located_in TAS
    GO:0070062 Cellular Component extracellular exosome located_in HDA
    GO:0101003 Cellular Component ficolin-1-rich granule membrane located_in TAS
    GO:0043231 Cellular Component intracellular membrane-bounded organelle located_in IDA
    GO:0043202 Cellular Component lysosomal lumen located_in TAS
    GO:0005765 Cellular Component lysosomal membrane located_in HDA
    GO:0005764 Cellular Component lysosome located_in IDA
    GO:0016020 Cellular Component membrane located_in HDA
    GO:0005886 Cellular Component plasma membrane located_in TAS
    GO:0070821 Cellular Component tertiary granule membrane located_in TAS
    Pathways
    Name DB ID
    Metabolism Reactome R-HSA-1430728
    Disease Reactome R-HSA-1643685
    Innate Immune System Reactome R-HSA-168249
    Immune System Reactome R-HSA-168256
    Glycogen storage diseases Reactome R-HSA-3229121
    Glycogen storage disease type II (GAA) Reactome R-HSA-5357609
    Diseases of carbohydrate metabolism Reactome R-HSA-5663084
    Diseases of metabolism Reactome R-HSA-5668914
    Neutrophil degranulation Reactome R-HSA-6798695
    Glycogen breakdown (glycogenolysis) Reactome R-HSA-70221
    Metabolism of carbohydrates Reactome R-HSA-71387
    Glycogen metabolism Reactome R-HSA-8982491
    Transcripts
    Accession Version MolecularType Name NCBI Comments
    NR_134848 2 miscRNA transcript variant 4 NC_000017 Reference
    XM_047435719 1 mRNA transcript variant X1 NC_000017 Reference
    NM_000152 5 mRNA transcript variant 1 NC_000017 Reference
    NM_001406741 1 mRNA transcript variant 5 NC_000017 Reference
    NM_001406742 1 mRNA transcript variant 6 NC_000017 Reference
    NM_001079803 3 mRNA transcript variant 2 NC_000017 Reference
    NM_001079804 3 mRNA transcript variant 3 NC_000017 Reference