Search results for GLB1

Showing 15 results out of 24

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Protein (5 results from a total of 11)

Identifier: R-HSA-1605623
Species: Homo sapiens
Compartment: lysosomal lumen
Primary external reference: UniProt: GLB1: P16278
Identifier: R-HSA-6800968
Species: Homo sapiens
Compartment: ficolin-1-rich granule lumen
Primary external reference: UniProt: GLB1: P16278
Identifier: R-HSA-6806213
Species: Homo sapiens
Compartment: extracellular region
Primary external reference: UniProt: GLB1: P16278
Identifier: R-HSA-6799124
Species: Homo sapiens
Compartment: azurophil granule lumen
Primary external reference: UniProt: GLB1: P16278
Identifier: R-HSA-2262738
Species: Homo sapiens
Compartment: lysosomal lumen
Primary external reference: UniProt: GLB1: P16278

Set (1 results from a total of 1)

Identifier: R-HSA-2262737
Species: Homo sapiens
Compartment: lysosomal lumen

Reaction (5 results from a total of 8)

Identifier: R-HSA-1630306
Species: Homo sapiens
Compartment: lysosomal lumen
Beta-galactosidase (GLB1) can cleave terminal galactose residues from glycosaminoglycans such as keratan sulfate (KS) (Asp et al. 1969). Defects in GLB1 cause the lysosomal storage diseases GM1gangliosidosis (Yoshida et al. 1991) and Morquio syndrome type B (Oshima et al. 1991).
Identifier: R-HSA-1606312
Species: Homo sapiens
Compartment: lysosomal lumen
Lactosylceramide (LacCer) is the central intermediate in glycosphingolipid catabolism. Beta-galactosidase (GLB1) cleaves the galactose moiety from LacCer to form glucosylceramide. LacCer accumulates in GLB1 deficiencies (MIM: 611458) like GM1-gangliosidosis but also in prosaposin deficiency (PSAPD, MIM: 611721), which shows saposin cofactors are essential for the reaction (Asp et al. 1969; Bradova et al., 1993). We follow Sandhoff & Sandhoff (2018), who state that Saposins B/C bind to LacCer.
Identifier: R-HSA-2090079
Species: Homo sapiens
Compartment: lysosomal lumen
Beta-galactosidase (GLB1) can cleave terminal galactose residues from the linker chain sequence of glycosaminoglycans (Asp et al. 1969). Defects in GLB1 causes the lysosomal storage diseases GM1 gangliosidosis (Yoshida et al. 1991) and Morquio syndrome B (Oshima et al. 1991).
Identifier: R-HSA-2265534
Species: Homo sapiens
Compartment: lysosomal lumen
Defects in beta-galactosidase (GLB1, MIM:611458) result in galactose moieties not being hydrolysed from keratan sulfate (KS) or the GAG linker chain, a tetrasccharide sequence required for some GAG biosyntheses to take place. Mucopolysaccharidosis IV B (MPSIVB, Morquio's syndrome B; MIM:253010) is the result of GLB1 deficiency.
GLB1 mutations causing severe phenotypes are R482C (Ishii et al. 1995), W509C (Oshima et al. 1991), Y83C (Santamaria et al. 2006) and W273L Paschke et al. 2001. Mild phenotypes where a partial loss of enzyme activity occurs can involve the mutants G438E, N484K, T500A (Bagshaw et al. 2002) and Y83H (Ishii et al. 1995). These mild phenotype mutants are not detailed here.
Identifier: R-HSA-9036061
Species: Homo sapiens
Compartment: lysosomal lumen
Defects in beta-galactosidase (GLB1, MIM:611458) result in galactose moieties not being hydrolysed from keratan sulfate (KS) or the GAG linker chain, a tetrasccharide sequence required for some GAG biosyntheses to take place. Mucopolysaccharidosis IV B (MPSIVB, Morquio's syndrome B; MIM:253010) is the result of GLB1 deficiency.
GLB1 mutations causing severe phenotypes are R482C (Ishii et al. 1995), W509C (Oshima et al. 1991), Y83C (Santamaria et al. 2006) and W273L Paschke et al. 2001. Mild phenotypes where a partial loss of enzyme activity occurs can involve the mutants G438E, N484K, T500A (Bagshaw et al. 2002) and Y83H (Ishii et al. 1995). These mild phenotype mutants are not detailed here.

Complex (2 results from a total of 2)

Identifier: R-HSA-1605684
Species: Homo sapiens
Compartment: lysosomal lumen
Identifier: R-HSA-4088186
Species: Homo sapiens
Compartment: lysosomal lumen

Pathway (1 results from a total of 1)

Identifier: R-HSA-2206308
Species: Homo sapiens
Defects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deterioration, as well as in mucopolysaccharidosis IVB, a characteristic mucopolysaccharidosis with no neurological symptoms (Callahan 1999).

Mucopolysaccharidosis IVB (MPS IVB, Morquio's syndrome B; MIM:253010) is a rare, autosomal recessive mucopolysaccharide storage disease characterized by intracellular accumulation of keratan sulfate (KS), skeletal dysplasia and corneal clouding. There is no central nervous system involvement, intelligence is normal and there is increased KS excretion in urine (Suzuki et al. "Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease", p3775-3809 in Stryer et al. 2001). MPSIVB is caused by a defect in betagalactosidase (GLB1), which normally cleaves terminal galactosyl residues from glycosaminoglycans, gangliosides and glycoproteins. The GLB1 gene spans 62.5 kb and contains 16 exons (Oshima et al.1988, Santamaria et al. 2007) and maps to chromosome 3p21.33 (Takano & Yamanouchi 1993).

Icon (1 results from a total of 1)

Species: Homo sapiens
Curator: Bijay Jassal
Designer: Cristoffer Sevilla
GLB1 icon
Beta-galactosidase.
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