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
Disease
H00125  Fabry disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Carbohydrate metabolism
   00052 Galactose metabolism
    2717 (GLA)
  Lipid metabolism
   00561 Glycerolipid metabolism
    2717 (GLA)
   00600 Sphingolipid metabolism
    2717 (GLA)
  Glycan biosynthesis and metabolism
   00603 Glycosphingolipid biosynthesis - globo and isoglobo series
    2717 (GLA)
 Cellular Processes
  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 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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