KEGG T01001: 2548

Homo sapiens (human): 2548

Entry

2548 CDS T01001

Gene name

GAA, LYAG

Definition

glucosidase, alpha; acid (EC:3.2.1.20)

Orthology

K12316

lysosomal alpha-glucosidase [EC:3.2.1.20]

Organism

hsa Homo sapiens (human)

Pathway

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

Disease

H00069

Glycogen storage diseases (GSD)

Drug target

Acarbose:

Miglitol:

Voglibose:

Other:

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 Gal_mutarotas_2

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

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

Ontology (5)   
   KEGG BRITE (5)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (7)   
   KEGG DRUG (7)   
Chemical substance (7)   
   KEGG COMPOUND (7)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (8)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   RefSeq(pep) (3)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
Protein domain (3)   
   Pfam (3)   
All databases (75)   

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