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Entry version 219 (18 Sep 2019)
Sequence version 1 (01 Aug 1988)
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Protein

Alpha-galactosidase A

Gene

GLA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids.2 Publications EC:3.2.1.22

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei170NucleophileBy similarity1
Active sitei231Proton donorBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS02389-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.22 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-6798695 Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P06280

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH27 Glycoside Hydrolase Family 27

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001380

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GLA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:4296 GLA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300644 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P06280

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs869312134EnsemblClinVar.1
Natural variantiVAR_01236220A → P in FD; atypical; loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs104894847EnsemblClinVar.1
Natural variantiVAR_07736821L → P in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312135EnsemblClinVar.1
Natural variantiVAR_01236331A → V in FD. 2 PublicationsCorresponds to variant dbSNP:rs869312448Ensembl.1
Natural variantiVAR_00043132L → P in FD. 1 Publication1
Natural variantiVAR_07736933D → G in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312136EnsemblClinVar.1
Natural variantiVAR_00043234N → S in FD. 3 PublicationsCorresponds to variant dbSNP:rs104894835EnsemblClinVar.1
Natural variantiVAR_07737035G → E in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312137EnsemblClinVar.1
Natural variantiVAR_00043335G → R in FD. 1 Publication1
Natural variantiVAR_07737136L → W in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312138EnsemblClinVar.1
Natural variantiVAR_01236440P → L in FD. 1 Publication1
Natural variantiVAR_00043440P → S in FD; loss of enzyme activity. 4 PublicationsCorresponds to variant dbSNP:rs104894831EnsemblClinVar.1
Natural variantiVAR_06255142M → L in FD. 1 PublicationCorresponds to variant dbSNP:rs797044613EnsemblClinVar.1
Natural variantiVAR_07737242M → T in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs398123201EnsemblClinVar.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:rs398123203EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs869312254Ensembl.1
Natural variantiVAR_00043549R → L in FD. 1 Publication1
Natural variantiVAR_01237049R → P in FD. 1 PublicationCorresponds to variant dbSNP:rs398123205EnsemblClinVar.1
Natural variantiVAR_01237149R → S in FD. 1 Publication1
Natural variantiVAR_00043652C → R in FD. 2 PublicationsCorresponds to variant dbSNP:rs1057521047EnsemblClinVar.1
Natural variantiVAR_00043752C → S in FD. Corresponds to variant dbSNP:rs869312256Ensembl.1
Natural variantiVAR_00043856C → F in FD. Corresponds to variant dbSNP:rs869312258Ensembl.1
Natural variantiVAR_00043956C → G in FD. 1 PublicationCorresponds to variant dbSNP:rs104894836EnsemblClinVar.1
Natural variantiVAR_01237256C → Y in FD; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs869312258Ensembl.1
Natural variantiVAR_00044059E → K in FD. 1
Natural variantiVAR_07737560P → L in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312262Ensembl.1
Natural variantiVAR_07737664I → F in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312139EnsemblClinVar.1
Natural variantiVAR_03229065S → T in FD; does not affect enzyme function. 2 PublicationsCorresponds to variant dbSNP:rs104894848EnsemblClinVar.1
Natural variantiVAR_00044166E → Q in FD; has 52% of wild-type activity. 4 PublicationsCorresponds to variant dbSNP:rs104894833EnsemblClinVar.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:rs781838005EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs869312140EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs869312141EnsemblClinVar.1
Natural variantiVAR_01237591I → T in FD; mild; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs869312141EnsemblClinVar.1
Natural variantiVAR_01237692D → H in FD. 1 Publication1
Natural variantiVAR_01237792D → Y in FD. 1 PublicationCorresponds to variant dbSNP:rs886041315EnsemblClinVar.1
Natural variantiVAR_01237893D → G in FD. 1 Publication1
Natural variantiVAR_06255493D → N in FD; has no enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs869312270Ensembl.1
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:rs113173389EnsemblClinVar.1
Natural variantiVAR_01238195W → S in FD. 2 Publications1
Natural variantiVAR_01238297A → V in FD. 1 Publication1
Natural variantiVAR_000445100R → K in FD. Corresponds to variant dbSNP:rs869312273Ensembl.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:rs104894834EnsemblClinVar.1
Natural variantiVAR_000448112R → H in FD; mild. 2 PublicationsCorresponds to variant dbSNP:rs372966991EnsemblClinVar.1
Natural variantiVAR_062555112R → S in FD. 1 Publication1
Natural variantiVAR_077381113F → I in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312142EnsemblClinVar.1
Natural variantiVAR_012384113F → L in FD; mild. 1 PublicationCorresponds to variant dbSNP:rs869312142EnsemblClinVar.1
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:rs782197638EnsemblClinVar.1
Natural variantiVAR_000450128G → E in FD. 1 Publication1
Natural variantiVAR_000451131L → P in FD. Corresponds to variant dbSNP:rs869312298Ensembl.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 PublicationCorresponds to variant dbSNP:rs886044845EnsemblClinVar.1
Natural variantiVAR_000452142C → Y in FD. 2 Publications1
Natural variantiVAR_000453143A → P in FD. 1 PublicationCorresponds to variant dbSNP:rs104894845EnsemblClinVar.1
Natural variantiVAR_012389143A → T in FD; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs104894845EnsemblClinVar.1
Natural variantiVAR_000454144G → V in FD. 1
Natural variantiVAR_000455146P → S in FD; mild. Corresponds to variant dbSNP:rs104894837EnsemblClinVar.1
Natural variantiVAR_012390148S → N in FD. 1 PublicationCorresponds to variant dbSNP:rs1555985829EnsemblClinVar.1
Natural variantiVAR_012391148S → R in FD. 2 Publications1
Natural variantiVAR_000456156A → T in FD. 1 PublicationCorresponds to variant dbSNP:rs28935195EnsemblClinVar.1
Natural variantiVAR_000457156A → V in FD. 3 PublicationsCorresponds to variant dbSNP:rs869312307Ensembl.1
Natural variantiVAR_012392162W → C in FD. 1 PublicationCorresponds to variant dbSNP:rs869312311Ensembl.1
Natural variantiVAR_000458162W → R in FD. 1 PublicationCorresponds to variant dbSNP:rs28935196EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs869312144EnsemblClinVar.1
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. Corresponds to variant dbSNP:rs869312318Ensembl.1
Natural variantiVAR_077387180L → F in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312145EnsemblClinVar.1
Natural variantiVAR_012396183G → D in FD. 1 Publication1
Natural variantiVAR_077388187M → I in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312146EnsemblClinVar.1
Natural variantiVAR_012397187M → V in FD; decreased enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs869312340Ensembl.1
Natural variantiVAR_077389196R → S in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312147EnsemblClinVar.1
Natural variantiVAR_077390198I → T in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs727503950EnsemblClinVar.1
Natural variantiVAR_062559201S → F in FD. 1 Publication1
Natural variantiVAR_000462202C → W in FD. 1 PublicationCorresponds to variant dbSNP:rs104894838EnsemblClinVar.1
Natural variantiVAR_012398202C → Y in FD; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs869312344EnsemblClinVar.1
Natural variantiVAR_077391204W → R in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312148EnsemblClinVar.1
Natural variantiVAR_012399205 – 207Missing in FD. 1 Publication3
Natural variantiVAR_000463205P → T in FD. 2 PublicationsCorresponds to variant dbSNP:rs397515870EnsemblClinVar.1
Natural variantiVAR_077392213K → R in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312149EnsemblClinVar.1
Natural variantiVAR_077393214P → L in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312150EnsemblClinVar.1
Natural variantiVAR_000464215N → S in FD; mild. 5 PublicationsCorresponds to variant dbSNP:rs28935197EnsemblClinVar.1
Natural variantiVAR_012400216Y → D in FD. 1 Publication1
Natural variantiVAR_077394219I → M in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312151EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs869312381Ensembl.1
Natural variantiVAR_000466224N → D in FD. 2 PublicationsCorresponds to variant dbSNP:rs1555985175EnsemblClinVar.1
Natural variantiVAR_012402224N → S in FD. 1 PublicationCorresponds to variant dbSNP:rs869312383Ensembl.1
Natural variantiVAR_012403226W → R in FD. 1 Publication1
Natural variantiVAR_077395227R → P in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs104894840EnsemblClinVar.1
Natural variantiVAR_000467227R → Q in FD. 2 PublicationsCorresponds to variant dbSNP:rs104894840EnsemblClinVar.1
Natural variantiVAR_077396228N → S in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312152EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs797044746EnsemblClinVar.1
Natural variantiVAR_012406236W → C in FD. 1 PublicationCorresponds to variant dbSNP:rs869312386EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs397515873EnsemblClinVar.1
Natural variantiVAR_077398243L → F in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs397515874EnsemblClinVar.1
Natural variantiVAR_012409244D → H in FD. 1 Publication1
Natural variantiVAR_000469244D → N in FD. Corresponds to variant dbSNP:rs727503948EnsemblClinVar.1
Natural variantiVAR_077399247S → P in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312393Ensembl.1
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:rs727505292EnsemblClinVar.1
Natural variantiVAR_077402254V → A in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312153EnsemblClinVar.1
Natural variantiVAR_012410258G → R in FD. 1 Publication1
Natural variantiVAR_012411259P → L in FD. 1 PublicationCorresponds to variant dbSNP:rs869312399EnsemblClinVar.1
Natural variantiVAR_012412259P → R in FD; decreased enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs869312399EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs869312154EnsemblClinVar.1
Natural variantiVAR_012415263N → S in FD. 1 PublicationCorresponds to variant dbSNP:rs869312404Ensembl.1
Natural variantiVAR_000471264D → V in FD. 2 PublicationsCorresponds to variant dbSNP:rs28935486EnsemblClinVar.1
Natural variantiVAR_062562264D → Y in FD. 1 PublicationCorresponds to variant dbSNP:rs190347120EnsemblClinVar.1
Natural variantiVAR_012416265P → R in FD. 1 Publication1
Natural variantiVAR_032291266D → H in FD. 1 Publication1
Natural variantiVAR_012418266D → N in FD. 1 PublicationCorresponds to variant dbSNP:rs869312407Ensembl.1
Natural variantiVAR_000472266D → V in FD. 1 PublicationCorresponds to variant dbSNP:rs28935487EnsemblClinVar.1
Natural variantiVAR_012419267M → I in FD. 2 PublicationsCorresponds to variant dbSNP:rs730880451EnsemblClinVar.1
Natural variantiVAR_000473269V → A in FD. 1 PublicationCorresponds to variant dbSNP:rs28935488EnsemblClinVar.1
Natural variantiVAR_077404269V → G in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs28935488EnsemblClinVar.1
Natural variantiVAR_000474272N → K in FD. 1
Natural variantiVAR_032292272N → S in FD. 1 PublicationCorresponds to variant dbSNP:rs28935495EnsemblClinVar.1
Natural variantiVAR_062563276S → G in FD; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs869312432Ensembl.1
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:rs28935485EnsemblClinVar.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. Corresponds to variant dbSNP:rs869312437Ensembl.1
Natural variantiVAR_012424289I → F in FD. 1 PublicationCorresponds to variant dbSNP:rs140329381EnsemblClinVar.1
Natural variantiVAR_012425296M → I in FD; atypical. 3 PublicationsCorresponds to variant dbSNP:rs104894846EnsemblClinVar.1
Natural variantiVAR_000478296M → V in FD; mild. 1 PublicationCorresponds to variant dbSNP:rs104894830EnsemblClinVar.1
Natural variantiVAR_000479297S → F in FD. 1 PublicationCorresponds to variant dbSNP:rs28935489EnsemblClinVar.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:rs104894828EnsemblClinVar.1
Natural variantiVAR_077406309A → V in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312155EnsemblClinVar.1
Natural variantiVAR_000482313D → Y in FD. 3 PublicationsCorresponds to variant dbSNP:rs28935490EnsemblClinVar.1
Natural variantiVAR_077408315D → N in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312156EnsemblClinVar.1
Natural variantiVAR_012429316 – 322Missing in FD. 1 Publication7
Natural variantiVAR_077409316V → A in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312157EnsemblClinVar.1
Natural variantiVAR_000483316V → E in FD. 1 Publication1
Natural variantiVAR_077410317I → S in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312158EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs869312159EnsemblClinVar.1
Natural variantiVAR_000484327Q → K in FD. 2 PublicationsCorresponds to variant dbSNP:rs28935491EnsemblClinVar.1
Natural variantiVAR_077412327Q → L in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312160EnsemblClinVar.1
Natural variantiVAR_077413327Q → R in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312160EnsemblClinVar.1
Natural variantiVAR_000486328G → A in FD. 2 PublicationsCorresponds to variant dbSNP:rs28935492EnsemblClinVar.1
Natural variantiVAR_000485328G → R in FD; loss of enzyme activity. 4 PublicationsCorresponds to variant dbSNP:rs104894832EnsemblClinVar.1
Natural variantiVAR_062566328G → V in FD. 1 Publication1
Natural variantiVAR_077414330Q → R in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312161EnsemblClinVar.1
Natural variantiVAR_062567338E → K in FD. 1 Publication1
Natural variantiVAR_012433340W → R in FD. 1 PublicationCorresponds to variant dbSNP:rs1555984869EnsemblClinVar.1
Natural variantiVAR_012434341E → K in FD. 1 PublicationCorresponds to variant dbSNP:rs869312214EnsemblClinVar.1
Natural variantiVAR_077415342R → P in FD; loss of enzyme activity. 1 Publication1
Natural variantiVAR_000487342R → Q in FD; severe. Corresponds to variant dbSNP:rs28935493EnsemblClinVar.1
Natural variantiVAR_077416352A → G in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312162EnsemblClinVar.1
Natural variantiVAR_077417356R → P in FD; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312163EnsemblClinVar.1
Natural variantiVAR_062568356R → Q in FD; has 15% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs869312163EnsemblClinVar.1
Natural variantiVAR_000488356R → W in FD; severe. 1 PublicationCorresponds to variant dbSNP:rs104894827EnsemblClinVar.1
Natural variantiVAR_062569358E → A in FD. 1 Publication1
Natural variantiVAR_000489358E → K in FD; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs797044774EnsemblClinVar.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:rs28935494EnsemblClinVar.1
Natural variantiVAR_012435363R → H in FD. 1 PublicationCorresponds to variant dbSNP:rs111422676EnsemblClinVar.1
Natural variantiVAR_012436373G → D in FD. 1 PublicationCorresponds to variant dbSNP:rs869312227EnsemblClinVar.1
Natural variantiVAR_012437373G → S in FD. 2 PublicationsCorresponds to variant dbSNP:rs727504348EnsemblClinVar.1
Natural variantiVAR_077419375G → A in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312164EnsemblClinVar.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_077420392R → S in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs869312165EnsemblClinVar.1
Natural variantiVAR_077421399W → S in FD; unknown pathological significance; decreased enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs782449839EnsemblClinVar.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:rs104894852EnsemblClinVar.1
Natural variantiVAR_062571414L → S in FD. 1 PublicationCorresponds to variant dbSNP:rs869312246EnsemblClinVar.1

<p>This subsection of the ‘Pathology and Biotech’ section describes the use of a protein as a pharmaceutical drug. It indicates the name of the drug, the name of the firm that commercializes it and explains in a few words in which context the drug is used. In some cases, drugs that are under development are also described.<p><a href='/help/pharmaceutical_use' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
2717

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GLA

MalaCards human disease database

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MalaCardsi
GLA
MIMi301500 phenotype

Open Targets

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OpenTargetsi
ENSG00000102393

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
324 Fabry disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28707

Protein family/group databases

Allergome; a platform for allergen knowledge

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Allergomei
9621 Hom s alpha-Galactosidase

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2524

Drug and drug target database

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DrugBanki
DB05018 Migalastat

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GLA

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 31Add BLAST31
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000100432 – 429Alpha-galactosidase AAdd BLAST398

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi52 ↔ 94
Disulfide bondi56 ↔ 63
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi139N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi142 ↔ 172
Glycosylationi192N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi202 ↔ 223
Glycosylationi215N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi378 ↔ 382

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P06280

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P06280

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P06280

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P06280

PeptideAtlas

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PeptideAtlasi
P06280

PRoteomics IDEntifications database

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PRIDEi
P06280

ProteomicsDB human proteome resource

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ProteomicsDBi
51881

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1005

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P06280

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P06280

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000102393 Expressed in 203 organ(s), highest expression level in left adrenal gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P06280 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P06280 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA000237
HPA000966

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108981, 23 interactors

Protein interaction database and analysis system

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IntActi
P06280, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000218516

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P06280

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1429
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details