Homo sapiens (human): 2717 Entry 2717              CDS       T01001                                  Gene name GLA, GALA Definition (RefSeq) galactosidase alpha   KO K01189   alpha-galactosidase [EC:3.2.1.22] Organism hsa  Homo sapiens (human) Pathway hsa00052   Galactose metabolism hsa00561   Glycerolipid metabolism hsa00600   Sphingolipid metabolism hsa00603   Glycosphingolipid biosynthesis - globo and isoglobo series hsa01100   Metabolic pathways hsa04142   Lysosome Network nt06014  Sphingolipid degradation   Element N00644   Hydrolysis of galabiosylceramide N00645   GLA deficiency in galabiosylceramide hydrolysis N00652   GLA mutation N10015   Replacement of deficient GLA N10016   Pharmacological chaperone of amenable GLA mutation Disease H00125   Fabry disease H00423   Sphingolipidosis Drug target Agalsidase alfa:  D02784 Agalsidase beta:  D03228 Migalastat (DG02691):  D05031 Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09101 Carbohydrate metabolism    00052 Galactose metabolism     2717 (GLA)   09103 Lipid metabolism    00561 Glycerolipid metabolism     2717 (GLA)    00600 Sphingolipid metabolism     2717 (GLA)   09107 Glycan biosynthesis and metabolism    00603 Glycosphingolipid biosynthesis - globo and isoglobo series     2717 (GLA)  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome     2717 (GLA) Enzymes [BR:hsa01000]  3. Hydrolases   3.2  Glycosylases    3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds     3.2.1.22  alpha-galactosidase      2717 (GLA) SSDB Motif Pfam:  Melibiase_2 Melibiase_2_C Melibiase Melibiase_C SAND Other DBs NCBI-GeneID:  2717 NCBI-ProteinID:  NP_000160 OMIM:  300644 HGNC:  4296 Ensembl:  ENSG00000102393 Vega:  OTTHUMG00000022026 Pharos:  P06280(Tclin) UniProt:  P06280 Q53Y83 LinkDB Structure PDB:  3HG3 3S5Z 3LX9 3S5Y 3GXP 3HG2 3HG4 3HG5 3LXC 4NXS 3TV8 3GXT 3LXB 3GXN 3LXA 1R46 1R47 Position Xq22.1 AA seq 429 aa MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEP DSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQL ANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENL ADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDL RHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIG GPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT MQMSLKDLL NT seq 1290 nt   +upstreamnt  +downstreamnt atgcagctgaggaacccagaactacatctgggctgcgcgcttgcgcttcgcttcctggcc ctcgtttcctgggacatccctggggctagagcactggacaatggattggcaaggacgcct accatgggctggctgcactgggagcgcttcatgtgcaaccttgactgccaggaagagcca gattcctgcatcagtgagaagctcttcatggagatggcagagctcatggtctcagaaggc tggaaggatgcaggttatgagtacctctgcattgatgactgttggatggctccccaaaga gattcagaaggcagacttcaggcagaccctcagcgctttcctcatgggattcgccagcta gctaattatgttcacagcaaaggactgaagctagggatttatgcagatgttggaaataaa acctgcgcaggcttccctgggagttttggatactacgacattgatgcccagacctttgct gactggggagtagatctgctaaaatttgatggttgttactgtgacagtttggaaaatttg gcagatggttataagcacatgtccttggccctgaataggactggcagaagcattgtgtac tcctgtgagtggcctctttatatgtggccctttcaaaagcccaattatacagaaatccga cagtactgcaatcactggcgaaattttgctgacattgatgattcctggaaaagtataaag agtatcttggactggacatcttttaaccaggagagaattgttgatgttgctggaccaggg ggttggaatgacccagatatgttagtgattggcaactttggcctcagctggaatcagcaa gtaactcagatggccctctgggctatcatggctgctcctttattcatgtctaatgacctc cgacacatcagccctcaagccaaagctctccttcaggataaggacgtaattgccatcaat caggaccccttgggcaagcaagggtaccagcttagacagggagacaactttgaagtgtgg gaacgacctctctcaggcttagcctgggctgtagctatgataaaccggcaggagattggt ggacctcgctcttataccatcgcagttgcttccctgggtaaaggagtggcctgtaatcct gcctgcttcatcacacagctcctccctgtgaaaaggaagctagggttctatgaatggact tcaaggttaagaagtcacataaatcccacaggcactgttttgcttcagctagaaaataca atgcagatgtcattaaaagacttactttaa

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