KEGG H.sapiens: 2717

Homo sapiens (human): 2717

Entry

2717 CDS H.sapiens

Gene name GLA

Definition galactosidase, alpha (EC:3.2.1.22)

Orthology K01189 alpha-galactosidase [EC:3.2.1.22]

Pathway hsa00052 Galactose metabolism
hsa00561 Glycerolipid metabolism
hsa00600 Sphingolipid metabolism
hsa00603 Glycosphingolipid biosynthesis - globo series
hsa04142 Lysosome

Disease H00125 Fabry disease

Class Metabolism; Carbohydrate Metabolism; Galactose metabolism
[PATH:hsa00052]
Metabolism; Lipid Metabolism; Glycerolipid metabolism
[PATH:hsa00561]
Metabolism; Lipid Metabolism; Sphingolipid metabolism
[PATH:hsa00600]
Metabolism; Glycan Biosynthesis and Metabolism; Glycosphingolipid
biosynthesis - globo series [PATH:hsa00603]
Cellular Processes; Transport and Catabolism; Lysosome
[PATH:hsa04142]

SSDB

Motif Pfam: Melibiase
PROSITE: ALPHA_GALACTOSIDASE

Other DBs NCBI-GI: 4504009
NCBI-GeneID: 2717
OMIM: 300644
HGNC: 4296
HPRD: 02357
Ensembl: ENSG00000102393
UniProt: P06280 Q53Y83

Structure

PDB: 3HG3 3GXP 3HG2 3HG4 3HG5 3GXT 3GXN 1R46
1R47

Position Xq22

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

All links

Pathway (5)   
   KEGG PATHWAY (5)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (9)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (4)   
   UniProt (2)   
   RefSeq(pep) (1)   
   IPI (1)   
DNA sequence (15)   
   RefSeq(nuc) (1)   
   GenBank (7)   
   EMBL (7)   
3D Structure (9)   
   PDB (9)   
Protein domain (2)   
   Pfam (1)   
   PROSITE (1)   
All databases (54)

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