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Protein

Alpha-galactosidase A

Gene

GLA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei170NucleophileBy similarity1
Active sitei231Proton donorBy similarity1

GO - Molecular functioni

  • alpha-galactosidase activity Source: UniProtKB
  • catalytic activity Source: UniProtKB
  • galactoside binding Source: Ensembl
  • hydrolase activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • raffinose alpha-galactosidase activity Source: UniProtKB-EC
  • receptor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS02389-MONOMER.
ZFISH:HS02389-MONOMER.
BRENDAi3.2.1.22. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-6798695. Neutrophil degranulation.
SABIO-RKP06280.

Protein family/group databases

CAZyiGH27. Glycoside Hydrolase Family 27.

Chemistry databases

SwissLipidsiSLP:000001380.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-galactosidase A (EC:3.2.1.221 Publication)
Alternative name(s):
Alpha-D-galactosidase A
Alpha-D-galactoside galactohydrolase
Melibiase
INN: Agalsidase
Gene namesi
Name:GLA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:4296. GLA.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • lysosomal lumen Source: Reactome
  • lysosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Fabry disease (FD)39 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.
See also OMIM:301500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06255012 – 14Missing in FD; has 4% of wild-type activity. 1 Publication3
Natural variantiVAR_01236220A → P in FD; atypical. 2 PublicationsCorresponds to variant rs104894847dbSNPEnsembl.1
Natural variantiVAR_01236331A → V in FD. 2 Publications1
Natural variantiVAR_00043132L → P in FD. 1 Publication1
Natural variantiVAR_00043234N → S in FD. 3 PublicationsCorresponds to variant rs28935192dbSNPEnsembl.1
Natural variantiVAR_00043335G → R in FD. 1 Publication1
Natural variantiVAR_01236440P → L in FD. 1 Publication1
Natural variantiVAR_00043440P → S in FD. 3 PublicationsCorresponds to variant rs104894831dbSNPEnsembl.1
Natural variantiVAR_06255142M → L in FD. 1 Publication1
Natural variantiVAR_01236542M → V in FD. 2 Publications1
Natural variantiVAR_06255243G → R in FD. 1 Publication1
Natural variantiVAR_01236645 – 46LH → RS in FD. 2
Natural variantiVAR_06255346H → P in FD; has 36% of wild-type activity. 1 Publication1
Natural variantiVAR_01236746H → R in FD. 1 Publication1
Natural variantiVAR_01236846H → Y in FD. 1 Publication1
Natural variantiVAR_01236947W → G in FD; decreased alpha-galactosidase activity. 2 Publications1
Natural variantiVAR_07647847W → R in FD; decreased alpha-galactosidase activity. 1 Publication1
Natural variantiVAR_00043549R → L in FD. 1 Publication1
Natural variantiVAR_01237049R → P in FD. 1 PublicationCorresponds to variant rs398123205dbSNPEnsembl.1
Natural variantiVAR_01237149R → S in FD. 1 Publication1
Natural variantiVAR_00043652C → R in FD. 2 Publications1
Natural variantiVAR_00043752C → S in FD. 1
Natural variantiVAR_00043856C → F in FD. 1
Natural variantiVAR_00043956C → G in FD. 1 PublicationCorresponds to variant rs28935193dbSNPEnsembl.1
Natural variantiVAR_01237256C → Y in FD. 1 Publication1
Natural variantiVAR_00044059E → K in FD. 1
Natural variantiVAR_03229065S → T in FD; does not affect enzyme function. 2 PublicationsCorresponds to variant rs104894848dbSNPEnsembl.1
Natural variantiVAR_00044166E → Q in FD; has 52% of wild-type activity. 4 PublicationsCorresponds to variant rs28935191dbSNPEnsembl.1
Natural variantiVAR_00044272M → V in FD; atypical. 2 Publications1
Natural variantiVAR_00044385G → D in FD. 1 Publication1
Natural variantiVAR_01237386Y → C in FD. 1 Publication1
Natural variantiVAR_01237489L → P in FD. 1 Publication1
Natural variantiVAR_00044489L → R in FD. 1
Natural variantiVAR_01237591I → T in FD; mild. 1 Publication1
Natural variantiVAR_01237692D → H in FD. 1 Publication1
Natural variantiVAR_01237792D → Y in FD. 1 Publication1
Natural variantiVAR_01237893D → G in FD. 1 Publication1
Natural variantiVAR_06255493D → N in FD; has no enzyme activity. 2 Publications1
Natural variantiVAR_01237994C → S in FD. 1 Publication1
Natural variantiVAR_01238094C → Y in FD. 1 PublicationCorresponds to variant rs113173389dbSNPEnsembl.1
Natural variantiVAR_01238195W → S in FD. 2 Publications1
Natural variantiVAR_01238297A → V in FD. 1 Publication1
Natural variantiVAR_000445100R → K in FD. 1
Natural variantiVAR_012383100R → T in FD. 1 Publication1
Natural variantiVAR_000446112 – 117Missing in FD. 6
Natural variantiVAR_000447112R → C in FD. 7 PublicationsCorresponds to variant rs104894834dbSNPEnsembl.1
Natural variantiVAR_000448112R → H in FD; mild. 2 PublicationsCorresponds to variant rs372966991dbSNPEnsembl.1
Natural variantiVAR_062555112R → S in FD. 1 Publication1
Natural variantiVAR_012384113F → L in FD; mild. 1 Publication1
Natural variantiVAR_012385113F → S in FD. 1 Publication1
Natural variantiVAR_000449120 – 121LA → PT in FD. 2
Natural variantiVAR_062556120L → V in FD; has 42% of wild-type activity. 1 Publication1
Natural variantiVAR_000450128G → E in FD. 1 Publication1
Natural variantiVAR_000451131L → P in FD. 1
Natural variantiVAR_012386134Y → S in FD. 2 Publications1
Natural variantiVAR_062557135A → V in FD. 1 Publication1
Natural variantiVAR_012387138G → R in FD. 1 Publication1
Natural variantiVAR_012388142C → R in FD. 1 Publication1
Natural variantiVAR_000452142C → Y in FD. 2 Publications1
Natural variantiVAR_000453143A → P in FD. 1 PublicationCorresponds to variant rs104894845dbSNPEnsembl.1
Natural variantiVAR_012389143A → T in FD; unknown pathological significance. 4 PublicationsCorresponds to variant rs104894845dbSNPEnsembl.1
Natural variantiVAR_000454144G → V in FD. 1
Natural variantiVAR_000455146P → S in FD; mild. Corresponds to variant rs28935194dbSNPEnsembl.1
Natural variantiVAR_012390148S → N in FD. 1 Publication1
Natural variantiVAR_012391148S → R in FD. 2 Publications1
Natural variantiVAR_000456156A → T in FD. 1 PublicationCorresponds to variant rs28935195dbSNPEnsembl.1
Natural variantiVAR_000457156A → V in FD. 3 Publications1
Natural variantiVAR_012392162W → C in FD. 1 Publication1
Natural variantiVAR_000458162W → R in FD. 1 PublicationCorresponds to variant rs28935196dbSNPEnsembl.1
Natural variantiVAR_012393163G → V in FD. 1 Publication1
Natural variantiVAR_000459165D → V in FD. 2 Publications1
Natural variantiVAR_000460166L → V in FD. 3 Publications1
Natural variantiVAR_012394170D → V in FD. 1 Publication1
Natural variantiVAR_062558171G → D in FD. 1 Publication1
Natural variantiVAR_012395172C → R in FD. 1 Publication1
Natural variantiVAR_000461172C → Y in FD. 1
Natural variantiVAR_012396183G → D in FD. 1 Publication1
Natural variantiVAR_012397187M → V in FD. 1 Publication1
Natural variantiVAR_062559201S → F in FD. 1 Publication1
Natural variantiVAR_000462202C → W in FD. 1 PublicationCorresponds to variant rs28936082dbSNPEnsembl.1
Natural variantiVAR_012398202C → Y in FD. 1 Publication1
Natural variantiVAR_012399205 – 207Missing in FD. 1 Publication3
Natural variantiVAR_000463205P → T in FD. 2 PublicationsCorresponds to variant rs397515870dbSNPEnsembl.1
Natural variantiVAR_000464215N → S in FD; mild. 5 PublicationsCorresponds to variant rs28935197dbSNPEnsembl.1
Natural variantiVAR_012400216Y → D in FD. 1 Publication1
Natural variantiVAR_000465219I → N in FD. 1
Natural variantiVAR_062560219I → T in FD; has 46% of wild-type activity. 1 Publication1
Natural variantiVAR_012401223C → G in FD. 1 Publication1
Natural variantiVAR_000466224N → D in FD. 2 Publications1
Natural variantiVAR_012402224N → S in FD. 1 Publication1
Natural variantiVAR_012403226W → R in FD. 1 Publication1
Natural variantiVAR_000467227R → Q in FD. 2 PublicationsCorresponds to variant rs28935198dbSNPEnsembl.1
Natural variantiVAR_012404230A → T in FD. 1 Publication1
Natural variantiVAR_000468231D → N in FD. 1 Publication1
Natural variantiVAR_062561234D → E in FD. 1 Publication1
Natural variantiVAR_012405235S → C in FD. 1 Publication1
Natural variantiVAR_012406236W → C in FD. 1 Publication1
Natural variantiVAR_012407236W → L in FD. 1 Publication1
Natural variantiVAR_012408242I → N in FD. 1 Publication1
Natural variantiVAR_012409244D → H in FD. 1 Publication1
Natural variantiVAR_000469244D → N in FD. Corresponds to variant rs727503948dbSNPEnsembl.1
Natural variantiVAR_000470247S → SWTS in FD. 1
Natural variantiVAR_012410258G → R in FD. 1 Publication1
Natural variantiVAR_012411259P → L in FD. 1 Publication1
Natural variantiVAR_012412259P → R in FD. 1 Publication1
Natural variantiVAR_012413260G → A in FD. 2 Publications1
Natural variantiVAR_012414261G → D in FD. 2 Publications1
Natural variantiVAR_012415263N → S in FD. 1 Publication1
Natural variantiVAR_000471264D → V in FD. 2 PublicationsCorresponds to variant rs28935486dbSNPEnsembl.1
Natural variantiVAR_062562264D → Y in FD. 1 PublicationCorresponds to variant rs190347120dbSNPEnsembl.1
Natural variantiVAR_012416265P → R in FD. 1 Publication1
Natural variantiVAR_032291266D → H in FD. 1 Publication1
Natural variantiVAR_012418266D → N in FD. 1 Publication1
Natural variantiVAR_000472266D → V in FD. 1 PublicationCorresponds to variant rs28935487dbSNPEnsembl.1
Natural variantiVAR_012419267M → I in FD. 2 PublicationsCorresponds to variant rs730880451dbSNPEnsembl.1
Natural variantiVAR_000473269V → A in FD. 1 PublicationCorresponds to variant rs28935488dbSNPEnsembl.1
Natural variantiVAR_000474272N → K in FD. 1
Natural variantiVAR_032292272N → S in FD. 1 PublicationCorresponds to variant rs28935495dbSNPEnsembl.1
Natural variantiVAR_062563276S → G in FD. 1 Publication1
Natural variantiVAR_000475279Q → E in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells. 4 PublicationsCorresponds to variant rs28935485dbSNPEnsembl.1
Natural variantiVAR_012420279Q → H in FD. 1 Publication1
Natural variantiVAR_012421280Q → H in FD. 1 Publication1
Natural variantiVAR_000476284M → T in FD. 1 Publication1
Natural variantiVAR_062564285A → P in FD. 1 Publication1
Natural variantiVAR_012422287W → C in FD. 1 Publication1
Natural variantiVAR_012423287W → G in FD. 1 Publication1
Natural variantiVAR_000477288A → D in FD. 1
Natural variantiVAR_012424289I → F in FD. 1 Publication1
Natural variantiVAR_012425296M → I in FD; atypical. 3 PublicationsCorresponds to variant rs104894846dbSNPEnsembl.1
Natural variantiVAR_000478296M → V in FD; mild. 1 PublicationCorresponds to variant rs104894830dbSNPEnsembl.1
Natural variantiVAR_000479297S → F in FD. 1 PublicationCorresponds to variant rs28935489dbSNPEnsembl.1
Natural variantiVAR_012426298N → H in FD. 2 Publications1
Natural variantiVAR_000480298N → K in FD. 1 Publication1
Natural variantiVAR_012427298N → S in FD. 1 Publication1
Natural variantiVAR_062565300L → F in FD. 1 Publication1
Natural variantiVAR_000481301R → Q in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells. 9 PublicationsCorresponds to variant rs104894828dbSNPEnsembl.1
Natural variantiVAR_000482313D → Y in FD. 3 PublicationsCorresponds to variant rs28935490dbSNPEnsembl.1
Natural variantiVAR_012429316 – 322Missing in FD. 1 Publication7
Natural variantiVAR_000483316V → E in FD. 1 Publication1
Natural variantiVAR_012430320N → K in FD. 2 Publications1
Natural variantiVAR_012431320N → Y in FD. 1 Publication1
Natural variantiVAR_012432321Q → E in FD. 1 PublicationCorresponds to variant rs730880439dbSNPEnsembl.1
Natural variantiVAR_000484327Q → K in FD. 2 PublicationsCorresponds to variant rs28935491dbSNPEnsembl.1
Natural variantiVAR_000486328G → A in FD. 2 PublicationsCorresponds to variant rs28935492dbSNPEnsembl.1
Natural variantiVAR_000485328G → R in FD. 3 PublicationsCorresponds to variant rs104894832dbSNPEnsembl.1
Natural variantiVAR_062566328G → V in FD. 1 Publication1
Natural variantiVAR_062567338E → K in FD. 1 Publication1
Natural variantiVAR_012433340W → R in FD. 1 Publication1
Natural variantiVAR_012434341E → K in FD. 1 Publication1
Natural variantiVAR_000487342R → Q in FD; severe. Corresponds to variant rs28935493dbSNPEnsembl.1
Natural variantiVAR_062568356R → Q in FD; has 15% of wild-type activity. 1 Publication1
Natural variantiVAR_000488356R → W in FD; severe. 1 PublicationCorresponds to variant rs104894827dbSNPEnsembl.1
Natural variantiVAR_062569358E → A in FD. 1 Publication1
Natural variantiVAR_000489358E → K in FD. 1 Publication1
Natural variantiVAR_000490358Missing in FD. 4 Publications1
Natural variantiVAR_062570360G → C in FD; has 6% of wild-type activity. 1 PublicationCorresponds to variant rs782598150dbSNPEnsembl.1
Natural variantiVAR_000491361G → R in FD; severe. 1 PublicationCorresponds to variant rs28935494dbSNPEnsembl.1
Natural variantiVAR_012435363R → H in FD. 1 PublicationCorresponds to variant rs111422676dbSNPEnsembl.1
Natural variantiVAR_012436373G → D in FD. 1 Publication1
Natural variantiVAR_012437373G → S in FD. 2 PublicationsCorresponds to variant rs727504348dbSNPEnsembl.1
Natural variantiVAR_012438377A → D in FD. 1 Publication1
Natural variantiVAR_012439378C → Y in FD. 1 Publication1
Natural variantiVAR_000492383Missing in FD; severe; with facial telangiectasias. 1 Publication1
Natural variantiVAR_000494404Missing in FD; mild. 3 Publications1
Natural variantiVAR_012440409P → A in FD. 1 Publication1
Natural variantiVAR_012441409P → T in FD. 1 Publication1
Natural variantiVAR_032293410T → A in FD; mild. 1 PublicationCorresponds to variant rs104894852dbSNPEnsembl.1
Natural variantiVAR_062571414L → S in FD. 1 Publication1

Pharmaceutical usei

Available under the names Replagal (from Shire) and Fabrazyme (from Genzyme). Used as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. The differences between Replagal (also known as agalsidase alpha) and Fabrazyme (also known as agalsidase beta) lies in the glycosylation patterns. Agalsidase beta is produced in the hamster CHO cell line while agalsidase alpha is produced in human cell lines.

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2717.
MalaCardsiGLA.
MIMi301500. phenotype.
OpenTargetsiENSG00000102393.
Orphaneti324. Fabry disease.
PharmGKBiPA28707.

Protein family/group databases

Allergomei9621. Hom s alpha-Galactosidase.

Chemistry databases

ChEMBLiCHEMBL2524.

Polymorphism and mutation databases

BioMutaiGLA.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Add BLAST31
ChainiPRO_000000100432 – 429Alpha-galactosidase AAdd BLAST398

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi52 ↔ 94
Disulfide bondi56 ↔ 63
Glycosylationi139N-linked (GlcNAc...)1 Publication1
Disulfide bondi142 ↔ 172
Glycosylationi192N-linked (GlcNAc...)1 Publication1
Disulfide bondi202 ↔ 223
Glycosylationi215N-linked (GlcNAc...)2 Publications1
Disulfide bondi378 ↔ 382
Glycosylationi408N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP06280.
PaxDbiP06280.
PeptideAtlasiP06280.
PRIDEiP06280.

PTM databases

iPTMnetiP06280.
PhosphoSitePlusiP06280.

Expressioni

Gene expression databases

BgeeiENSG00000102393.
CleanExiHS_GLA.
ExpressionAtlasiP06280. baseline and differential.
GenevisibleiP06280. HS.

Organism-specific databases

HPAiHPA000237.
HPA000966.

Interactioni

Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
  • receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108981. 14 interactors.
IntActiP06280. 5 interactors.
STRINGi9606.ENSP00000218516.

Chemistry databases

BindingDBiP06280.

Structurei

Secondary structure

1429
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi42 – 46Combined sources5
Helixi47 – 50Combined sources4
Turni56 – 58Combined sources3
Turni60 – 62Combined sources3
Beta strandi63 – 65Combined sources3
Helixi66 – 78Combined sources13
Helixi81 – 84Combined sources4
Beta strandi88 – 90Combined sources3
Beta strandi102 – 104Combined sources3
Turni110 – 112Combined sources3
Beta strandi113 – 115Combined sources3
Helixi116 – 126Combined sources11
Beta strandi130 – 140Combined sources11
Beta strandi144 – 146Combined sources3
Turni149 – 151Combined sources3
Helixi152 – 162Combined sources11
Beta strandi166 – 170Combined sources5
Helixi177 – 193Combined sources17
Beta strandi199 – 202Combined sources4
Helixi205 – 208Combined sources4
Turni209 – 211Combined sources3
Helixi216 – 222Combined sources7
Beta strandi224 – 227Combined sources4
Helixi236 – 248Combined sources13
Helixi250 – 253Combined sources4
Turni254 – 256Combined sources3
Beta strandi261 – 264Combined sources4
Beta strandi272 – 274Combined sources3
Helixi277 – 289Combined sources13
Beta strandi294 – 296Combined sources3
Helixi305 – 311Combined sources7
Helixi314 – 320Combined sources7
Beta strandi329 – 334Combined sources6
Beta strandi337 – 343Combined sources7
Helixi345 – 347Combined sources3
Beta strandi349 – 355Combined sources7
Beta strandi359 – 361Combined sources3
Beta strandi363 – 368Combined sources6
Helixi369 – 371Combined sources3
Helixi373 – 375Combined sources3
Turni376 – 378Combined sources3
Beta strandi379 – 390Combined sources12
Beta strandi392 – 398Combined sources7
Beta strandi402 – 407Combined sources6
Beta strandi412 – 419Combined sources8
Helixi420 – 424Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1R46X-ray3.25A/B32-429[»]
1R47X-ray3.45A/B32-429[»]
3GXNX-ray3.01A/B32-429[»]
3GXPX-ray2.20A/B32-429[»]
3GXTX-ray2.70A/B32-429[»]
3HG2X-ray2.30A/B32-429[»]
3HG3X-ray1.90A/B32-429[»]
3HG4X-ray2.30A/B32-429[»]
3HG5X-ray2.30A/B32-429[»]
3LX9X-ray2.04A/B32-429[»]
3LXAX-ray3.04A/B32-429[»]
3LXBX-ray2.85A/B32-429[»]
3LXCX-ray2.35A/B32-429[»]
3S5YX-ray2.10A/B32-429[»]
3S5ZX-ray2.00A/B32-429[»]
3TV8X-ray2.64A/B32-429[»]
4NXSX-ray2.55A/B32-429[»]
ProteinModelPortaliP06280.
SMRiP06280.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP06280.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni203 – 207Substrate binding5

Sequence similaritiesi

Belongs to the glycosyl hydrolase 27 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2366. Eukaryota.
ENOG410XPF1. LUCA.
GeneTreeiENSGT00390000008751.
HOGENOMiHOG000161224.
HOVERGENiHBG001989.
InParanoidiP06280.
KOiK01189.
OMAiCNVDCQE.
OrthoDBiEOG091G0BGV.
PhylomeDBiP06280.
TreeFamiTF312909.

Family and domain databases

CDDicd14792. GH27. 1 hit.
Gene3Di2.60.40.1180. 1 hit.
3.20.20.70. 1 hit.
InterProiIPR013785. Aldolase_TIM.
IPR002241. Glyco_hydro_27.
IPR000111. Glyco_hydro_27/36_CS.
IPR013780. Glyco_hydro_b.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF16499. Melibiase_2. 1 hit.
[Graphical view]
PRINTSiPR00740. GLHYDRLASE27.
SUPFAMiSSF51445. SSF51445. 1 hit.
PROSITEiPS00512. ALPHA_GALACTOSIDASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P06280-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQLRNPELHL GCALALRFLA LVSWDIPGAR ALDNGLARTP TMGWLHWERF
60 70 80 90 100
MCNLDCQEEP DSCISEKLFM EMAELMVSEG WKDAGYEYLC IDDCWMAPQR
110 120 130 140 150
DSEGRLQADP QRFPHGIRQL ANYVHSKGLK LGIYADVGNK TCAGFPGSFG
160 170 180 190 200
YYDIDAQTFA DWGVDLLKFD GCYCDSLENL ADGYKHMSLA LNRTGRSIVY
210 220 230 240 250
SCEWPLYMWP FQKPNYTEIR QYCNHWRNFA DIDDSWKSIK SILDWTSFNQ
260 270 280 290 300
ERIVDVAGPG GWNDPDMLVI GNFGLSWNQQ VTQMALWAIM AAPLFMSNDL
310 320 330 340 350
RHISPQAKAL LQDKDVIAIN QDPLGKQGYQ LRQGDNFEVW ERPLSGLAWA
360 370 380 390 400
VAMINRQEIG GPRSYTIAVA SLGKGVACNP ACFITQLLPV KRKLGFYEWT
410 420
SRLRSHINPT GTVLLQLENT MQMSLKDLL
Length:429
Mass (Da):48,767
Last modified:August 1, 1988 - v1
Checksum:i613F8BF21B107D7B
GO

RNA editingi

Edited at position 396.1 Publication
Partially edited.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06255012 – 14Missing in FD; has 4% of wild-type activity. 1 Publication3
Natural variantiVAR_01236220A → P in FD; atypical. 2 PublicationsCorresponds to variant rs104894847dbSNPEnsembl.1
Natural variantiVAR_01236331A → V in FD. 2 Publications1
Natural variantiVAR_00043132L → P in FD. 1 Publication1
Natural variantiVAR_00043234N → S in FD. 3 PublicationsCorresponds to variant rs28935192dbSNPEnsembl.1
Natural variantiVAR_00043335G → R in FD. 1 Publication1
Natural variantiVAR_01236440P → L in FD. 1 Publication1
Natural variantiVAR_00043440P → S in FD. 3 PublicationsCorresponds to variant rs104894831dbSNPEnsembl.1
Natural variantiVAR_06255142M → L in FD. 1 Publication1
Natural variantiVAR_01236542M → V in FD. 2 Publications1
Natural variantiVAR_06255243G → R in FD. 1 Publication1
Natural variantiVAR_01236645 – 46LH → RS in FD. 2
Natural variantiVAR_06255346H → P in FD; has 36% of wild-type activity. 1 Publication1
Natural variantiVAR_01236746H → R in FD. 1 Publication1
Natural variantiVAR_01236846H → Y in FD. 1 Publication1
Natural variantiVAR_01236947W → G in FD; decreased alpha-galactosidase activity. 2 Publications1
Natural variantiVAR_07647847W → R in FD; decreased alpha-galactosidase activity. 1 Publication1
Natural variantiVAR_00043549R → L in FD. 1 Publication1
Natural variantiVAR_01237049R → P in FD. 1 PublicationCorresponds to variant rs398123205dbSNPEnsembl.1
Natural variantiVAR_01237149R → S in FD. 1 Publication1
Natural variantiVAR_00043652C → R in FD. 2 Publications1
Natural variantiVAR_00043752C → S in FD. 1
Natural variantiVAR_00043856C → F in FD. 1
Natural variantiVAR_00043956C → G in FD. 1 PublicationCorresponds to variant rs28935193dbSNPEnsembl.1
Natural variantiVAR_01237256C → Y in FD. 1 Publication1
Natural variantiVAR_00044059E → K in FD. 1
Natural variantiVAR_03229065S → T in FD; does not affect enzyme function. 2 PublicationsCorresponds to variant rs104894848dbSNPEnsembl.1
Natural variantiVAR_00044166E → Q in FD; has 52% of wild-type activity. 4 PublicationsCorresponds to variant rs28935191dbSNPEnsembl.1
Natural variantiVAR_00044272M → V in FD; atypical. 2 Publications1
Natural variantiVAR_00044385G → D in FD. 1 Publication1
Natural variantiVAR_01237386Y → C in FD. 1 Publication1
Natural variantiVAR_01237489L → P in FD. 1 Publication1
Natural variantiVAR_00044489L → R in FD. 1
Natural variantiVAR_01237591I → T in FD; mild. 1 Publication1
Natural variantiVAR_01237692D → H in FD. 1 Publication1
Natural variantiVAR_01237792D → Y in FD. 1 Publication1
Natural variantiVAR_01237893D → G in FD. 1 Publication1
Natural variantiVAR_06255493D → N in FD; has no enzyme activity. 2 Publications1
Natural variantiVAR_01237994C → S in FD. 1 Publication1
Natural variantiVAR_01238094C → Y in FD. 1 PublicationCorresponds to variant rs113173389dbSNPEnsembl.1
Natural variantiVAR_01238195W → S in FD. 2 Publications1
Natural variantiVAR_01238297A → V in FD. 1 Publication1
Natural variantiVAR_000445100R → K in FD. 1
Natural variantiVAR_012383100R → T in FD. 1 Publication1
Natural variantiVAR_000446112 – 117Missing in FD. 6
Natural variantiVAR_000447112R → C in FD. 7 PublicationsCorresponds to variant rs104894834dbSNPEnsembl.1
Natural variantiVAR_000448112R → H in FD; mild. 2 PublicationsCorresponds to variant rs372966991dbSNPEnsembl.1
Natural variantiVAR_062555112R → S in FD. 1 Publication1
Natural variantiVAR_012384113F → L in FD; mild. 1 Publication1
Natural variantiVAR_012385113F → S in FD. 1 Publication1
Natural variantiVAR_000449120 – 121LA → PT in FD. 2
Natural variantiVAR_062556120L → V in FD; has 42% of wild-type activity. 1 Publication1
Natural variantiVAR_000450128G → E in FD. 1 Publication1
Natural variantiVAR_000451131L → P in FD. 1
Natural variantiVAR_012386134Y → S in FD. 2 Publications