GLB1
Isoform 1: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. 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. Belongs to the glycosyl hydrolase 35 family. Detected in placenta (at protein level) (PubMed:8383699). Detected in fibroblasts and testis (PubMed:2511208). 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: Carbohydrate Metabolism - galactose; EC 3.2.1.23; Glycan Metabolism - glycosaminoglycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Glycan Metabolism - other glycan degradation; Hydrolase; Lipid Metabolism - sphingolipid |
Chromosomal Location of human Ortholog: 3p22.3 |
Cellular Component:
azurophil granule lumen; cytoplasm; extracellular region; ficolin-1-rich granule lumen; Golgi apparatus; intracellular membrane-bounded organelle; lysosomal lumen; perinuclear region of cytoplasm; vacuole
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Molecular Function:
beta-galactosidase activity; galactoside binding; protein binding; protein homodimerization activity
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Biological Process:
carbohydrate metabolic process; galactose catabolic process; glycosphingolipid metabolic process; heparan sulfate proteoglycan catabolic process; keratan sulfate catabolic process; response to cortisone; response to Thyroglobulin triiodothyronine
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Disease: Gm1-gangliosidosis, Type I; Gm1-gangliosidosis, Type Ii; Gm1-gangliosidosis, Type Iii; Mucopolysaccharidosis Type Ivb
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Reference #:
P16278
(UniProtKB)
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Alt. Names/Synonyms: Acid beta-galactosidase; Beta-galactosidase; BGAL; EBP; elastin binding protein; Elastin receptor 1; elastin receptor 1, 67kDa; ELNR1; galactosidase beta 1; galactosidase, beta 1; GLB1; Lactase; MPS4B
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Gene Symbols: GLB1
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Molecular weight:
76,075 Da
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Basal Isoelectric point:
6.1
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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