GLA
entrez
2717
canonical
uniprot
P06280
canonical
ensembl
ENSG00000102393
resolver
ensp
ENSP00000218516
resolver
ensp
ENSP00000498186
resolver
ensp
ENSP00000502629
resolver
enst
ENST00000218516
resolver
enst
ENST00000649178
resolver
enst
ENST00000674634
resolver
genesymbol
GLA
resolver
hgnc
HGNC:4296
resolver
uniprot
A0A3B3IUC4
resolver
uniprot
A0A6Q8PHD1
resolver
uniprot
Q53Y83
resolver
uniprot
Q6LER7
resolver
uniprot_entry
A0A3B3IUC4_HUMAN
resolver
uniprot_entry
A0A6Q8PHD1_HUMAN
resolver
uniprot_entry
AGAL_HUMAN
resolver
uniprot_entry
Q53Y83_HUMAN
resolver
uniprot_sec
Q6LER7
resolver
activity_regulation
ACTIVITY REGULATION: Galactosylgalactosylglucosylceramidase activity is stimulated by saposin B and ammonium chloride. {ECO:0000269|PubMed:10838196, ECO:0000269|PubMed:8804427}.
uniprot
proteins
amino_acid_sequence
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL
uniprot
proteins
disease_involvement
DISEASE: Fabry disease (FABRYD) [MIM:301500]: An X-linked inborn error of glycosphingolipid catabolism due to lysosomal alpha-galactosidase A deficiency, leading to systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids. Clinical features include angiokeratomas over the lower trunk, progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, febrile episodes, and burning pain in the extremities. Disease onset is usually in childhood or adolescence. Death results from renal failure, cardiac or cerebrovascular disease. Heterozygous females may exhibit the disorder in an attenuated form. {ECO:0000269|PubMed:10090526, ECO:0000269|PubMed:10208848, ECO:0000269|PubMed:10666480, ECO:0000269|PubMed:10838196, ECO:0000269|PubMed:10916280, ECO:0000269|PubMed:11076046, ECO:0000269|PubMed:11295840, ECO:0000269|PubMed:11668641, ECO:0000269|PubMed:11889412, ECO:0000269|PubMed:12694230, ECO:0000269|PubMed:12786754, ECO:0000269|PubMed:1315715, ECO:0000269|PubMed:15162124, ECO:0000269|PubMed:15712228, ECO:0000269|PubMed:16533976, ECO:0000269|PubMed:1846223, ECO:0000269|PubMed:19621417, ECO:0000269|PubMed:2152885, ECO:0000269|PubMed:2171331, ECO:0000269|PubMed:2539398, ECO:0000269|PubMed:26415523, ECO:0000269|PubMed:27142856, ECO:0000269|PubMed:27211852, ECO:0000269|PubMed:7504405, ECO:0000269|PubMed:7531540, ECO:0000269|PubMed:7575533, ECO:0000269|PubMed:7596372, ECO:0000269|PubMed:7599642, ECO:0000269|PubMed:7759078, ECO:0000269|PubMed:8069316, ECO:0000269|PubMed:8395937, ECO:0000269|PubMed:8738659, ECO:0000269|PubMed:8807334, ECO:0000269|PubMed:8834244, ECO:0000269|PubMed:8863162, ECO:0000269|PubMed:8875188, ECO:0000269|PubMed:8931708, ECO:0000269|PubMed:9100224, ECO:0000269|PubMed:9105656, ECO:0000269|PubMed:9452068, ECO:0000269|PubMed:9452090, ECO:0000269|PubMed:9452111, ECO:0000269|PubMed:9554750}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.22
uniprot
proteins
function
FUNCTION: Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome. {ECO:0000269|PubMed:10838196, ECO:0000269|PubMed:8804427}.
uniprot
proteins
mass_dalton
48767
uniprot
proteins
protein_family
Glycosyl hydrolase 27 family
uniprot
proteins
pubmed
10090526
uniprot
proteins
pubmed
10208848
uniprot
proteins
pubmed
10666480
uniprot
proteins
pubmed
10838196
uniprot
proteins
pubmed
10916280
uniprot
proteins
pubmed
11076046
uniprot
proteins
pubmed
11295840
uniprot
proteins
pubmed
11668641
uniprot
proteins
pubmed
11889412
uniprot
proteins
pubmed
12694230
uniprot
proteins
pubmed
12786754
uniprot
proteins
pubmed
1315715
uniprot
proteins
pubmed
15003450
uniprot
proteins
pubmed
15162124
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15712228
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16533976
uniprot
proteins
pubmed
1846223
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19621417
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2152885
uniprot
proteins
pubmed
2171331
uniprot
proteins
pubmed
2539398
uniprot
proteins
pubmed
2542896
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26415523
uniprot
proteins
pubmed
27142856
uniprot
proteins
pubmed
27211852
uniprot
proteins
pubmed
2836863
uniprot
proteins
pubmed
2892762
uniprot
proteins
pubmed
3014515
uniprot
proteins
pubmed
3036505
uniprot
proteins
pubmed
7503918
uniprot
proteins
pubmed
7504405
uniprot
proteins
pubmed
7531540
uniprot
proteins
pubmed
7575533
uniprot
proteins
pubmed
7596372
uniprot
proteins
pubmed
7599642
uniprot
proteins
pubmed
7626884
uniprot
proteins
pubmed
7759078
uniprot
proteins
pubmed
7911050
uniprot
proteins
pubmed
8069316
uniprot
proteins
pubmed
8395937
uniprot
proteins
pubmed
8738659
uniprot
proteins
pubmed
8804427
uniprot
proteins
pubmed
8807334
uniprot
proteins
pubmed
8834244
uniprot
proteins
pubmed
8863162
uniprot
proteins
pubmed
8875188
uniprot
proteins
pubmed
8931708
uniprot
proteins
pubmed
9100224
uniprot
proteins
pubmed
9105656
uniprot
proteins
pubmed
9452068
uniprot
proteins
pubmed
9452090
uniprot
proteins
pubmed
9452111
uniprot
proteins
pubmed
9554750
uniprot
proteins
sequence_length
429
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome.
uniprot
proteins