KEGG H.sapiens: 2548

Homo sapiens (human): 2548

Entry

2548 CDS H.sapiens

Gene name GAA

Definition glucosidase, alpha; acid (EC:3.2.1.20)

Orthology K12316 lysosomal alpha-glucosidase [EC:3.2.1.20]

Pathway hsa00052 Galactose metabolism
hsa00500 Starch and sucrose metabolism
hsa01100 Metabolic pathways
hsa04142 Lysosome

Disease H00069 Glycogen storage diseases (GSD)

Class Metabolism; Carbohydrate Metabolism; Galactose metabolism
[PATH:hsa00052]
Metabolism; Carbohydrate Metabolism; Starch and sucrose metabolism
[PATH:hsa00500]
Cellular Processes; Transport and Catabolism; Lysosome
[PATH:hsa04142]

SSDB

Motif Pfam: Glyco_hydro_31 Trefoil
PROSITE: GLYCOSYL_HYDROL_F31_1 GLYCOSYL_HYDROL_F31_2 P_TREFOIL

Other DBs NCBI-GI: 119393891
NCBI-GeneID: 2548
OMIM: 606800
HGNC: 4065
HPRD: 06006
Ensembl: ENSG00000171298
UniProt: A6NFM4 P10253

Position 17q25.2-q25.3

AA seq 952 aa
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGA
SRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGA
QMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLH
FTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLF
FADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLA
LEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGY
PFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG
FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKV
WPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELEN
PPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISR
STFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVR
WTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAG
ETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPV
EALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP
MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQ
LQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC

NT seq 2859 nt +upstreamnt +downstreamnt
atgggagtgaggcacccgccctgctcccaccggctcctggccgtctgcgccctcgtgtcc
ttggcaaccgctgcactcctggggcacatcctactccatgatttcctgctggttccccga
gagctgagtggctcctccccagtcctggaggagactcacccagctcaccagcagggagcc
agcagaccagggccccgggatgcccaggcacaccccggccgtcccagagcagtgcccaca
cagtgcgacgtcccccccaacagccgcttcgattgcgcccctgacaaggccatcacccag
gaacagtgcgaggcccgcggctgttgctacatccctgcaaagcaggggctgcagggagcc
cagatggggcagccctggtgcttcttcccacccagctaccccagctacaagctggagaac
ctgagctcctctgaaatgggctacacggccaccctgacccgtaccacccccaccttcttc
cccaaggacatcctgaccctgcggctggacgtgatgatggagactgagaaccgcctccac
ttcacgatcaaagatccagctaacaggcgctacgaggtgcccttggagaccccgcatgtc
cacagccgggcaccgtccccactctacagcgtggagttctccgaggagcccttcggggtg
atcgtgcgccggcagctggacggccgcgtgctgctgaacacgacggtggcgcccctgttc
tttgcggaccagttccttcagctgtccacctcgctgccctcgcagtatatcacaggcctc
gccgagcacctcagtcccctgatgctcagcaccagctggaccaggatcaccctgtggaac
cgggaccttgcgcccacgcccggtgcgaacctctacgggtctcaccctttctacctggcg
ctggaggacggcgggtcggcacacggggtgttcctgctaaacagcaatgccatggatgtg
gtcctgcagccgagccctgcccttagctggaggtcgacaggtgggatcctggatgtctac
atcttcctgggcccagagcccaagagcgtggtgcagcagtacctggacgttgtgggatac
ccgttcatgccgccatactggggcctgggcttccacctgtgccgctggggctactcctcc
accgctatcacccgccaggtggtggagaacatgaccagggcccacttccccctggacgtc
cagtggaacgacctggactacatggactcccggagggacttcacgttcaacaaggatggc
ttccgggacttcccggccatggtgcaggagctgcaccagggcggccggcgctacatgatg
atcgtggatcctgccatcagcagctcgggccctgccgggagctacaggccctacgacgag
ggtctgcggaggggggttttcatcaccaacgagaccggccagccgctgattgggaaggta
tggcccgggtccactgccttccccgacttcaccaaccccacagccctggcctggtgggag
gacatggtggctgagttccatgaccaggtgcccttcgacggcatgtggattgacatgaac
gagccttccaacttcatcaggggctctgaggacggctgccccaacaatgagctggagaac
ccaccctacgtgcctggggtggttggggggaccctccaggcggccaccatctgtgcctcc
agccaccagtttctctccacacactacaacctgcacaacctctacggcctgaccgaagcc
atcgcctcccacagggcgctggtgaaggctcgggggacacgcccatttgtgatctcccgc
tcgacctttgctggccacggccgatacgccggccactggacgggggacgtgtggagctcc
tgggagcagctcgcctcctccgtgccagaaatcctgcagtttaacctgctgggggtgcct
ctggtcggggccgacgtctgcggcttcctgggcaacacctcagaggagctgtgtgtgcgc
tggacccagctgggggccttctaccccttcatgcggaaccacaacagcctgctcagtctg
ccccaggagccgtacagcttcagcgagccggcccagcaggccatgaggaaggccctcacc
ctgcgctacgcactcctcccccacctctacacactgttccaccaggcccacgtcgcgggg
gagaccgtggcccggcccctcttcctggagttccccaaggactctagcacctggactgtg
gaccaccagctcctgtggggggaggccctgctcatcaccccagtgctccaggccgggaag
gccgaagtgactggctacttccccttgggcacatggtacgacctgcagacggtgccagta
gaggcccttggcagcctcccacccccacctgcagctccccgtgagccagccatccacagc
gaggggcagtgggtgacgctgccggcccccctggacaccatcaacgtccacctccgggct
gggtacatcatccccctgcagggccctggcctcacaaccacagagtcccgccagcagccc
atggccctggctgtggccctgaccaagggtggggaggcccgaggggagctgttctgggac
gatggagagagcctggaagtgctggagcgaggggcctacacacaggtcatcttcctggcc
aggaataacacgatcgtgaatgagctggtacgtgtgaccagtgagggagctggcctgcag
ctgcagaaggtgactgtcctgggcgtggccacggcgccccagcaggtcctctccaacggt
gtccctgtctccaacttcacctacagccccgacaccaaggtcctggacatctgtgtctcg
ctgttgatgggagagcagtttctcgtcagctggtgttag

All links

Pathway (4)   
   KEGG PATHWAY (4)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (7)   
   UniProt (2)   
   RefSeq(pep) (3)   
   IPI (2)   
DNA sequence (13)   
   RefSeq(nuc) (3)   
   GenBank (5)   
   EMBL (5)   
Protein domain (5)   
   Pfam (2)   
   PROSITE (3)   
All databases (44)

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