Homo sapiens (human): 2717
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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
<JP>
Agalsidase beta:
D03228
<JP/US>
Migalastat (
DG02691
):
D05031
<JP/US>
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
Melibiase_2
Melibiase_2_C
Melibiase
Melibiase_C
SAND
Motif
Other DBs
NCBI-GeneID:
2717
NCBI-ProteinID:
NP_000160
OMIM:
300644
HGNC:
4296
Ensembl:
ENSG00000102393
Vega:
OTTHUMG00000022026
Pharos:
P06280
(Tclin)
UniProt:
P06280
Q53Y83
LinkDB
All DBs
Structure
PDB:
3HG3
6IBK
3S5Z
6IBR
6IBT
3LX9
6IBM
3S5Y
3GXP
3HG2
3HG4
3HG5
3LXC
4NXS
3TV8
3GXT
3LXB
3GXN
3LXA
1R46
1R47
Thumbnails
Position
Xq22.1
AA seq
429 aa
AA seq
DB search
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEP
DSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQL
ANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENL
ADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDL
RHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIG
GPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT
MQMSLKDLL
NT seq
1290 nt
NT seq
+upstream
nt +downstream
nt
atgcagctgaggaacccagaactacatctgggctgcgcgcttgcgcttcgcttcctggcc
ctcgtttcctgggacatccctggggctagagcactggacaatggattggcaaggacgcct
accatgggctggctgcactgggagcgcttcatgtgcaaccttgactgccaggaagagcca
gattcctgcatcagtgagaagctcttcatggagatggcagagctcatggtctcagaaggc
tggaaggatgcaggttatgagtacctctgcattgatgactgttggatggctccccaaaga
gattcagaaggcagacttcaggcagaccctcagcgctttcctcatgggattcgccagcta
gctaattatgttcacagcaaaggactgaagctagggatttatgcagatgttggaaataaa
acctgcgcaggcttccctgggagttttggatactacgacattgatgcccagacctttgct
gactggggagtagatctgctaaaatttgatggttgttactgtgacagtttggaaaatttg
gcagatggttataagcacatgtccttggccctgaataggactggcagaagcattgtgtac
tcctgtgagtggcctctttatatgtggccctttcaaaagcccaattatacagaaatccga
cagtactgcaatcactggcgaaattttgctgacattgatgattcctggaaaagtataaag
agtatcttggactggacatcttttaaccaggagagaattgttgatgttgctggaccaggg
ggttggaatgacccagatatgttagtgattggcaactttggcctcagctggaatcagcaa
gtaactcagatggccctctgggctatcatggctgctcctttattcatgtctaatgacctc
cgacacatcagccctcaagccaaagctctccttcaggataaggacgtaattgccatcaat
caggaccccttgggcaagcaagggtaccagcttagacagggagacaactttgaagtgtgg
gaacgacctctctcaggcttagcctgggctgtagctatgataaaccggcaggagattggt
ggacctcgctcttataccatcgcagttgcttccctgggtaaaggagtggcctgtaatcct
gcctgcttcatcacacagctcctccctgtgaaaaggaagctagggttctatgaatggact
tcaaggttaagaagtcacataaatcccacaggcactgttttgcttcagctagaaaataca
atgcagatgtcattaaaagacttactttaa
DBGET
integrated database retrieval system