GLB1

Gene Name		galactosidase, beta 1
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Gene Ontology Annotations	Cellular Component	Cytoplasm Vacuole Golgi Apparatus Lysosomal Lumen Perinuclear Region Of Cytoplasm Extracellular Vesicular Exosome
	Molecular Function	Beta-galactosidase Activity Protein Binding Galactoside Binding
	Biological Process	Carbohydrate Metabolic Process Glycosaminoglycan Catabolic Process Dolichol-linked Oligosaccharide Biosynthetic Process Sphingolipid Metabolic Process Glycosphingolipid Metabolic Process Pathogenesis Protein N-linked Glycosylation Via Asparagine Galactose Catabolic Process Glycosaminoglycan Metabolic Process Keratan Sulfate Metabolic Process Keratan Sulfate Catabolic Process Post-translational Protein Modification Cellular Protein Metabolic Process Small Molecule Metabolic Process
Pathways		Metabolism of lipids and lipoproteins Keratan sulfate/keratin metabolism MPS I - Hurler syndrome MPS IX - Natowicz syndrome Glycosaminoglycan metabolism Defective MGAT2 causes MGAT2-CDG (CDG-2a) Defective CHST14 causes EDS, musculocontractural type Myoclonic epilepsy of Lafora Glycogen storage diseases MPS IIID - Sanfilippo syndrome D Defective CHST6 causes MCDC1 Defective ALG2 causes ALG2-CDG (CDG-1i) Diseases associated with glycosaminoglycan metabolism Mucopolysaccharidoses Keratan sulfate degradation Post-translational protein modification Defective ALG3 causes ALG3-CDG (CDG-1d) Defective EXT2 causes exostoses 2 Synthesis of substrates in N-glycan biosythesis Asparagine N-linked glycosylation MPS IV - Morquio syndrome A Sialic acid metabolism Defective MPDU1 causes MPDU1-CDG (CDG-1f) Metabolism of carbohydrates Diseases associated with N-glycosylation of proteins MPS VI - Maroteaux-Lamy syndrome MPS IIIB - Sanfilippo syndrome B Diseases of glycosylation Defective B4GALT7 causes EDS, progeroid type Heparan sulfate/heparin (HS-GAG) metabolism Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) Defective SLC26A2 causes chondrodysplasias Defective ALG1 causes ALG1-CDG (CDG-1k) Defective MOGS causes MOGS-CDG (CDG-2b) Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective PAPSS2 causes SEMD-PA Defective ALG9 causes ALG9-CDG (CDG-1l) MPS IIIA - Sanfilippo syndrome A Defective MAN1B1 causes MRT15 MPS IIIC - Sanfilippo syndrome C Defective ALG11 causes ALG11-CDG (CDG-1p) Sphingolipid metabolism Glycosphingolipid metabolism Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 MPS II - Hunter syndrome Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective EXT1 causes exostoses 1, TRPS2 and CHDS Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective RFT1 causes RFT1-CDG (CDG-1n) Defective ALG6 causes ALG6-CDG (CDG-1c) Defective ALG8 causes ALG8-CDG (CDG-1h) Defective ALG12 causes ALG12-CDG (CDG-1g) MPS IV - Morquio syndrome B Defective CHSY1 causes TPBS MPS VII - Sly syndrome HS-GAG degradation
Drugs
Diseases
GWAS		Atopic dermatitis ( 23042114) Hepatocellular carcinoma ( 21105107)
Protein-protein Interactions		7 interactors: CSNK2B CTSA DNAJB1 FOS NEU1 PLK1 TK1
Entrez ID		2720
HPRD ID		01975
Ensembl ID		ENSG00000170266
Uniprot IDs		P16278
PDB IDs		3THC 3THD
Enriched GO Terms of Interacting Partners?		Response To Toxic Substance Dolichol-linked Oligosaccharide Biosynthetic Process Glycosphingolipid Metabolic Process Fetal Process Involved In Parturition Protein N-linked Glycosylation Via Asparagine Protein N-linked Glycosylation Skeletal Muscle Cell Proliferation Activation Of APC-Cdc20 Complex Activity Glycolipid Metabolic Process Response To Glucocorticoid Sphingolipid Metabolic Process Response To Corticosteroid Positive Regulation Of Metabolic Process Phosphorylation Polar Body Extrusion After Meiotic Divisions Response To Temperature Stimulus Post-translational Protein Modification Response To Cortisol Chaperone Cofactor-dependent Protein Refolding Conditioned Taste Aversion Thymidine Metabolic Process Membrane Lipid Metabolic Process Activation Of Anaphase-promoting Complex Activity Meiotic Cytokinesis Response To Hormone Peptidyl-amino Acid Modification Positive Regulation Of Mitotic Metaphase/anaphase Transition Positive Regulation Of Activin Receptor Signaling Pathway Deoxyribonucleoside Monophosphate Biosynthetic Process Regulation Of Binding Adiponectin-activated Signaling Pathway Metaphase/anaphase Transition Of Mitotic Cell Cycle Oligosaccharide Catabolic Process Pyrimidine Nucleoside Salvage Pyrimidine-containing Compound Salvage Cellular Metabolic Process Regulation Of Catalytic Activity Negative Regulation Of Inclusion Body Assembly Cellular Protein Metabolic Process Endothelial Tube Morphogenesis Response To Organic Substance Protein Localization To Chromatin Response To Metal Ion Protein Glycosylation Macromolecule Glycosylation Glycosylation Sleep Response To Gravity Positive Regulation Of Peptidyl-threonine Phosphorylation Positive Regulation Of Chromosome Segregation
Tagcloud ?		acy acy1 acylamino aminoacylase aminohydrolase approximate assignment autosomal chromosome chromosomes conserved electrophoretic eliminating galactosidase gangliosidosis gm1 hamster hybrids inbred linkage mammals map q21 segment segregating somatic tf transferrin translocations