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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.2 Publications

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

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc: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:3.2.1.222 Publications)
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

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Fabry disease (FD)43 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_07736720A → D in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_01236220A → P in FD; atypical; loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs104894847Ensembl.1
Natural variantiVAR_07736821L → P in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_01236331A → V in FD. 2 Publications1
Natural variantiVAR_00043132L → P in FD. 1 Publication1
Natural variantiVAR_07736933D → G in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_00043234N → S in FD. 3 PublicationsCorresponds to variant dbSNP:rs28935192Ensembl.1
Natural variantiVAR_07737035G → E in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_00043335G → R in FD. 1 Publication1
Natural variantiVAR_07737136L → W in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_01236440P → L in FD. 1 Publication1
Natural variantiVAR_00043440P → S in FD; loss of enzyme activity. 4 PublicationsCorresponds to variant dbSNP:rs104894831Ensembl.1
Natural variantiVAR_06255142M → L in FD. 1 PublicationCorresponds to variant dbSNP:rs797044613Ensembl.1
Natural variantiVAR_07737242M → T in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123201Ensembl.1
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_07737345L → P in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_06255346H → P in FD; has 36% of wild-type activity. 1 Publication1
Natural variantiVAR_01236746H → R in FD. 1 PublicationCorresponds to variant dbSNP:rs398123203Ensembl.1
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_07737448E → D in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_00043549R → L in FD. 1 Publication1
Natural variantiVAR_01237049R → P in FD. 1 PublicationCorresponds to variant dbSNP:rs398123205Ensembl.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 dbSNP:rs28935193Ensembl.1
Natural variantiVAR_01237256C → Y in FD; loss of enzyme activity. 2 Publications1
Natural variantiVAR_00044059E → K in FD. 1
Natural variantiVAR_07737560P → L in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_07737664I → F in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_03229065S → T in FD; does not affect enzyme function. 2 PublicationsCorresponds to variant dbSNP:rs104894848Ensembl.1
Natural variantiVAR_00044166E → Q in FD; has 52% of wild-type activity. 4 PublicationsCorresponds to variant dbSNP:rs28935191Ensembl.1
Natural variantiVAR_00044272M → V in FD; atypical. 2 Publications1
Natural variantiVAR_07737880G → D in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs781838005Ensembl.1
Natural variantiVAR_00044385G → D in FD. 1 Publication1
Natural variantiVAR_01237386Y → C in FD. 1 Publication1
Natural variantiVAR_07737986Y → H in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_01237489L → P in FD. 1 Publication1
Natural variantiVAR_00044489L → R in FD. 1
Natural variantiVAR_07738091I → N in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_01237591I → T in FD; mild; loss of enzyme activity. 2 Publications1
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; loss of enzyme activity. 2 Publications1
Natural variantiVAR_01238094C → Y in FD; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs113173389Ensembl.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 dbSNP:rs104894834Ensembl.1
Natural variantiVAR_000448112R → H in FD; mild. 2 PublicationsCorresponds to variant dbSNP:rs372966991Ensembl.1
Natural variantiVAR_062555112R → S in FD. 1 Publication1
Natural variantiVAR_077381113F → I in FD; unknown pathological significance; decreased enzyme activity. 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_077382121A → T in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs782197638Ensembl.1
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 dbSNP:rs104894845Ensembl.1
Natural variantiVAR_012389143A → T in FD; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs104894845Ensembl.1
Natural variantiVAR_000454144G → V in FD. 1
Natural variantiVAR_000455146P → S in FD; mild. Corresponds to variant dbSNP:rs28935194Ensembl.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 dbSNP:rs28935195Ensembl.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 dbSNP:rs28935196Ensembl.1
Natural variantiVAR_012393163G → V in FD. 1 Publication1
Natural variantiVAR_077384164V → G in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_077385164V → L in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_000459165D → V in FD. 2 Publications1
Natural variantiVAR_000460166L → V in FD. 3 Publications1
Natural variantiVAR_077386167L → Q in FD; loss of enzyme activity. 1 Publication1
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_077387180L → F in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_012396183G → D in FD. 1 Publication1
Natural variantiVAR_077388187M → I in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_012397187M → V in FD; decreased enzyme activity. 2 Publications1
Natural variantiVAR_077389196R → S in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_077390198I → T in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs727503950Ensembl.1
Natural variantiVAR_062559201S → F in FD. 1 Publication1
Natural variantiVAR_000462202C → W in FD. 1 PublicationCorresponds to variant dbSNP:rs28936082Ensembl.1
Natural variantiVAR_012398202C → Y in FD; loss of enzyme activity. 2 Publications1
Natural variantiVAR_077391204W → R in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_012399205 – 207Missing in FD. 1 Publication3
Natural variantiVAR_000463205P → T in FD. 2 PublicationsCorresponds to variant dbSNP:rs397515870Ensembl.1
Natural variantiVAR_077392213K → R in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_077393214P → L in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_000464215N → S in FD; mild. 5 PublicationsCorresponds to variant dbSNP:rs28935197Ensembl.1
Natural variantiVAR_012400216Y → D in FD. 1 Publication1
Natural variantiVAR_077394219I → M in FD; unknown pathological significance; decreased enzyme activity. 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_077395227R → P in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_000467227R → Q in FD. 2 PublicationsCorresponds to variant dbSNP:rs28935198Ensembl.1
Natural variantiVAR_077396228N → S in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
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 PublicationCorresponds to variant dbSNP:rs797044746Ensembl.1
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_077397242I → V in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_077398243L → F in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs397515874Ensembl.1
Natural variantiVAR_012409244D → H in FD. 1 Publication1
Natural variantiVAR_000469244D → N in FD. Corresponds to variant dbSNP:rs727503948Ensembl.1
Natural variantiVAR_077399247S → P in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_000470247S → SWTS in FD. 1
Natural variantiVAR_077400249N → K in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_077401253I → T in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs727505292Ensembl.1
Natural variantiVAR_077402254V → A in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_012410258G → R in FD. 1 Publication1
Natural variantiVAR_012411259P → L in FD. 1 Publication1
Natural variantiVAR_012412259P → R in FD; decreased enzyme activity. 2 Publications1
Natural variantiVAR_012413260G → A in FD. 2 Publications1
Natural variantiVAR_012414261G → D in FD. 2 Publications1
Natural variantiVAR_077403262W → R in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_012415263N → S in FD. 1 Publication1
Natural variantiVAR_000471264D → V in FD. 2 PublicationsCorresponds to variant dbSNP:rs28935486Ensembl.1
Natural variantiVAR_062562264D → Y in FD. 1 PublicationCorresponds to variant dbSNP:rs190347120Ensembl.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 dbSNP:rs28935487Ensembl.1
Natural variantiVAR_012419267M → I in FD. 2 PublicationsCorresponds to variant dbSNP:rs730880451Ensembl.1
Natural variantiVAR_000473269V → A in FD. 1 PublicationCorresponds to variant dbSNP:rs28935488Ensembl.1
Natural variantiVAR_077404269V → G in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_000474272N → K in FD. 1
Natural variantiVAR_032292272N → S in FD. 1 PublicationCorresponds to variant dbSNP:rs28935495Ensembl.1
Natural variantiVAR_062563276S → G in FD; loss of enzyme activity. 2 Publications1
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 dbSNP:rs28935485Ensembl.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 dbSNP:rs104894846Ensembl.1
Natural variantiVAR_000478296M → V in FD; mild. 1 PublicationCorresponds to variant dbSNP:rs104894830Ensembl.1
Natural variantiVAR_000479297S → F in FD. 1 PublicationCorresponds to variant dbSNP:rs28935489Ensembl.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 dbSNP:rs104894828Ensembl.1
Natural variantiVAR_077406309A → V in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_000482313D → Y in FD. 3 PublicationsCorresponds to variant dbSNP:rs28935490Ensembl.1
Natural variantiVAR_077408315D → N in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_012429316 – 322Missing in FD. 1 Publication7
Natural variantiVAR_077409316V → A in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_000483316V → E in FD. 1 Publication1
Natural variantiVAR_077410317I → S in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_012430320N → K in FD. 2 Publications1
Natural variantiVAR_012431320N → Y in FD; loss of enzyme activity. 2 Publications1
Natural variantiVAR_012432321Q → E in FD. 1 PublicationCorresponds to variant dbSNP:rs730880439Ensembl.1
Natural variantiVAR_077411323P → R in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_000484327Q → K in FD. 2 PublicationsCorresponds to variant dbSNP:rs28935491Ensembl.1
Natural variantiVAR_077412327Q → L in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_077413327Q → R in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_000486328G → A in FD. 2 PublicationsCorresponds to variant dbSNP:rs28935492Ensembl.1
Natural variantiVAR_000485328G → R in FD; loss of enzyme activity. 4 PublicationsCorresponds to variant dbSNP:rs104894832Ensembl.1
Natural variantiVAR_062566328G → V in FD. 1 Publication1
Natural variantiVAR_077414330Q → R in FD; unknown pathological significance; decreased enzyme activity. 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_077415342R → P in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_000487342R → Q in FD; severe. Corresponds to variant dbSNP:rs28935493Ensembl.1
Natural variantiVAR_077416352A → G in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_077417356R → P in FD; loss of enzyme activity. 1 Publication1
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 dbSNP:rs104894827Ensembl.1
Natural variantiVAR_062569358E → A in FD. 1 Publication1
Natural variantiVAR_000489358E → K in FD; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs797044774Ensembl.1
Natural variantiVAR_000490358Missing in FD. 4 Publications1
Natural variantiVAR_062570360G → C in FD; has 6% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs782598150Ensembl.1
Natural variantiVAR_077418360G → S in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_000491361G → R in FD; severe. 1 PublicationCorresponds to variant dbSNP:rs28935494Ensembl.1
Natural variantiVAR_012435363R → H in FD. 1 PublicationCorresponds to variant dbSNP:rs111422676Ensembl.1
Natural variantiVAR_012436373G → D in FD. 1 Publication1
Natural variantiVAR_012437373G → S in FD. 2 PublicationsCorresponds to variant dbSNP:rs727504348Ensembl.1
Natural variantiVAR_077419375G → A in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
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_077420392R → S in FD; unknown pathological significance; decreased enzyme activity. 1 Publication1
Natural variantiVAR_077421399W → S in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs782449839Ensembl.1
Natural variantiVAR_000494404Missing in FD; mild; loss of enzyme activity. 4 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 dbSNP:rs104894852Ensembl.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. 6 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 sources