Human Gene GLB1 (ENST00000307363.10) from GENCODE V44
Description: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. (from UniProt P16278) RefSeq Summary (NM_000404): This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]. Gencode Transcript: ENST00000307363.10 Gencode Gene: ENSG00000170266.16 Transcript (Including UTRs) Position: hg38 chr3:32,996,617-33,097,146 Size: 100,530 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr3:32,997,045-33,097,085 Size: 100,041 Coding Exon Count: 16
ID:BGAL_HUMAN DESCRIPTION: RecName: Full=Beta-galactosidase; EC=3.2.1.23; AltName: Full=Acid beta-galactosidase; Short=Lactase; AltName: Full=Elastin receptor 1; Flags: Precursor; FUNCTION: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. FUNCTION: Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers. CATALYTIC ACTIVITY: Hydrolysis of terminal non-reducing beta-D- galactose residues in beta-D-galactosides. INTERACTION: Q9NSA3:CTNNBIP1; NbExp=1; IntAct=EBI-989638, EBI-747082; Q99519:NEU1; NbExp=1; IntAct=EBI-989638, EBI-721517; SUBCELLULAR LOCATION: Isoform 1: Lysosome. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes. DISEASE: Defects in GLB1 are the cause of GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]; also known as infantile GM1- gangliosidosis. GM1-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1G1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life. DISEASE: Defects in GLB1 are the cause of GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]; also known as late infantile/juvenile GM1- gangliosidosis. GM1G2 is characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive. DISEASE: Defects in GLB1 are the cause of GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]; also known as adult or chronic GM1- gangliosidosis. GM1G3 is characterized by a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive. DISEASE: Defects in GLB1 are the cause of mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]; also known as Morquio syndrome B. MPS4B is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. SIMILARITY: Belongs to the glycosyl hydrolase 35 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLB1"; WEB RESOURCE: Name=Wikipedia; Note=Beta-galactosidase entry; URL="http://en.wikipedia.org/wiki/Beta-galactosidase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P16278
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006027 glycosaminoglycan catabolic process GO:0006687 glycosphingolipid metabolic process GO:0008152 metabolic process GO:0019388 galactose catabolic process GO:0042340 keratan sulfate catabolic process GO:0043312 neutrophil degranulation GO:0044262 cellular carbohydrate metabolic process GO:0051413 response to cortisone GO:1904016 response to Thyroglobulin triiodothyronine
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00052 - Galactose metabolism hsa00511 - Other glycan degradation hsa00531 - Glycosaminoglycan degradation hsa00600 - Sphingolipid metabolism hsa00604 - Glycosphingolipid biosynthesis - ganglio series hsa01100 - Metabolic pathways hsa04142 - Lysosome
BioCyc Knowledge Library BGALACT-PWY - lactose degradation III
Reactome (by CSHL, EBI, and GO)
Protein P16278 (Reactome details) participates in the following event(s):
R-HSA-6798751 Exocytosis of azurophil granule lumen proteins R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins R-HSA-1605624 Beta-galactosidase hydrolyses GM1 to GM2 R-HSA-1606312 Beta-galactosidase can also hydrolyse globosides to form cerebrosides R-HSA-1630306 GLB1 hydrolyses a glycosaminoglycan R-HSA-2090079 GLB1 hydrolyses linker chain(2) R-HSA-1605724 Neu5Ac is cleaved from GM3 by NEU1 and 4 to form a globoside (lysosomal lumen) R-HSA-4084999 NEU1,4 hydrolyses Neu5Ac from glycoconjugates R-HSA-6798695 Neutrophil degranulation R-HSA-1660662 Glycosphingolipid metabolism R-HSA-2022857 Keratan sulfate degradation R-HSA-2024096 HS-GAG degradation R-HSA-168249 Innate Immune System R-HSA-4085001 Sialic acid metabolism R-HSA-428157 Sphingolipid metabolism R-HSA-1638074 Keratan sulfate/keratin metabolism R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism R-HSA-168256 Immune System R-HSA-446219 Synthesis of substrates in N-glycan biosythesis R-HSA-556833 Metabolism of lipids R-HSA-1630316 Glycosaminoglycan metabolism R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-1430728 Metabolism R-HSA-71387 Metabolism of carbohydrates R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
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