Alpha-galactosidase A

Function

Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.

Classification

Family (Pfam)

PF16499 Melibiase_2, PF17450 Melibiase_2_C

InterPro

Aldolase_TIM, GH, Glyco_hydro_27, Glyco_hydro_27/36_CS, Glyco_hydro_b, Melibiase/NAGA_C

Functional cluster

Secreted Hydrolases & Toxins

Experimental structures · PDB · 31

• 1R46 X-ray 3.25A
• 1R47 X-ray 3.45A
• 3GXN X-ray 3.01A
• 3GXP X-ray 2.20A
• 3GXT X-ray 2.70A
• 3HG2 X-ray 2.30A
• 3HG3 X-ray 1.90A
• 3HG4 X-ray 2.30A
• 3HG5 X-ray 2.30A
• 3LX9 X-ray 2.04A
• 3LXA X-ray 3.04A
• 3LXB X-ray 2.85A
• … and 19 more

A predicted model is available from AlphaFold.

Gene Ontology · 19

• GO:0035578 azurophil granule lumen
• GO:0005737 cytoplasm
• GO:0070062 extracellular exosome
• GO:0005576 extracellular region
• GO:0005794 Golgi apparatus
• GO:0043202 lysosomal lumen
• GO:0005764 lysosome
• GO:0016020 membrane
• GO:0004557 alpha-galactosidase activity
• GO:0003824 catalytic activity
• GO:0016787 hydrolase activity
• GO:0042803 protein homodimerization activity
• GO:0005102 signaling receptor binding
• GO:0016139 glycoside catabolic process
• GO:0046479 glycosphingolipid catabolic process
• GO:0046477 glycosylceramide catabolic process
• GO:0045019 negative regulation of nitric oxide biosynthetic process
• GO:0051001 negative regulation of nitric-oxide synthase activity
• GO:0009311 oligosaccharide metabolic process

Disease associations

• Fabry disease MONDO:0010526

Drugs targeting this protein · 2

• MIGALASTAT stabiliser
• MIGALASTAT HYDROCHLORIDE stabiliser

Related proteins · sequence + function similarity

• Alpha-galactosidase A 0.97
• Alpha-N-acetylgalactosaminidase 0.93
• Alpha-N-acetylgalactosaminidase 0.93
• Alpha-N-acetylgalactosaminidase 0.93
• Alpha-N-acetylgalactosaminidase 0.93
• Alpha-N-acetylgalactosaminidase 0.91
• Alpha-galactosidase 3 0.80
• Tissue alpha-L-fucosidase 0.77
• Tissue alpha-L-fucosidase 0.76
• Alpha-galactosidase 2 0.76
• Alpha-galactosidase 0.76
• Tissue alpha-L-fucosidase 0.75

Co-cited proteins · studied together in the literature

• Heterogeneous nuclear ribonucleoprotein H2 1 shared papers
• Alpha-galactosidase A 1 shared papers
• Large ribosomal subunit protein eL42 1 shared papers
• Tyrosine-protein kinase BTK 1 shared papers
• Tyrosine-protein kinase BTK 1 shared papers

Literature · 58 cited papers

• A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. Int. J. Neurosci. · 2016
• Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. Orphanet J. Rare Dis. · 2016
• Functional and clinical consequences of novel alpha-galactosidase A mutations in Fabry disease. Hum. Mutat. · 2016
• N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
• Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
• Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum. Mutat. · 2009
• Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J. Proteome Res. · 2009
• Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Arch. Neurol. · 2006
• The DNA sequence of the human X chromosome. Nature · 2005
• Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum. Mutat. · 2005
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
• Remarkable variability in renal disease in a large Slovenian family with Fabry disease. Eur. J. Hum. Genet. · 2004
• … and 46 more in the literature graph