KEGG   Homo sapiens (human): 2717Help
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
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
Structure
PDB: 

Position
Xq22.1
AA seq 429 aa AA seqDB search
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEP
DSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQL
ANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENL
ADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDL
RHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIG
GPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT
MQMSLKDLL
NT seq 1290 nt NT seq  +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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