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.
Protein type: Carbohydrate Metabolism - galactose; EC; 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
Molecular Function:  beta-galactosidase activity; galactoside binding; protein binding; protein homodimerization activity
Biological Process:  cellular carbohydrate metabolic process; galactose catabolic process; glycosaminoglycan catabolic process; glycosphingolipid metabolic process; keratan sulfate catabolic process; neutrophil degranulation; response to cortisone; response to Thyroglobulin triiodothyronine
Disease: Gm1-gangliosidosis, Type I; Gm1-gangliosidosis, Type Ii; Gm1-gangliosidosis, Type Iii; Mucopolysaccharidosis Type Ivb
Reference #:  P16278 (UniProtKB)
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
Gene Symbols: GLB1
Molecular weight: 76,075 Da
Basal Isoelectric point: 6.1  Predict pI for various phosphorylation states
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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