LMPD Database

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LMP006644

UniProt Annotations

Entry Information
Gene Namegalactosidase, beta 1
Protein EntryBGAL_HUMAN
UniProt IDP16278
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P16278-1; Sequence=Displayed; Name=2; Synonyms=Beta-galactosidase-related protein, Beta-galactosidase-like protein, S-Gal, Elastin-binding protein, EBP; IsoId=P16278-2, P16279-1; Sequence=VSP_031241; Name=3; IsoId=P16278-3; Sequence=VSP_039974; Note=No experimental confirmation available.;
Catalytic ActivityHydrolysis of terminal non-reducing beta-D- galactose residues in beta-D-galactosides.
DiseaseGM1-gangliosidosis 1 (GM1G1) [MIM
DiseaseGM1-gangliosidosis 2 (GM1G2) [MIM
DiseaseGM1-gangliosidosis 3 (GM1G3) [MIM
DiseaseMucopolysaccharidosis 4B (MPS4B) [MIM
FunctionCleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
FunctionIsoform 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.
InteractionQ9NSA3:CTNNBIP1; NbExp=1; IntAct=EBI-989638, EBI-747082; Q99519:NEU1; NbExp=1; IntAct=EBI-989638, EBI-721517;
SimilarityBelongs to the glycosyl hydrolase 35 family.
Subcellular LocationIsoform 1: Lysosome.
Subcellular LocationIsoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes.
Web ResourceName=Wikipedia; Note=Beta-galactosidase entry; URL="http://en.wikipedia.org/wiki/Beta-galactosidase";