HYAL1

Gene Name		hyaluronoglucosaminidase 1
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Gene Ontology Annotations	Cellular Component	Extracellular Space Cytoplasm Lysosome Cytoplasmic Vesicle Hyaluranon Cable Lysosomal Lumen Extracellular Vesicular Exosome
	Molecular Function	Virus Receptor Activity Hyalurononglucosaminidase Activity Transcription Factor Binding Hyaluronan Synthase Activity
	Biological Process	Response To Reactive Oxygen Species Carbohydrate Metabolic Process Inflammatory Response Pathogenesis Response To Virus Positive Regulation Of Epithelial Cell Migration Glycosaminoglycan Metabolic Process Chondroitin Sulfate Metabolic Process Chondroitin Sulfate Catabolic Process Hyaluronan Metabolic Process Hyaluronan Biosynthetic Process Hyaluronan Catabolic Process Positive Regulation Of Cell Growth Negative Regulation Of Cell Growth Cellular Response To Platelet-derived Growth Factor Stimulus Small Molecule Metabolic Process Cellular Response To Fibroblast Growth Factor Stimulus Positive Regulation Of Angiogenesis Positive Regulation Of Cell Adhesion Positive Regulation Of Growth Response To Antibiotic Positive Regulation Of Epithelial Cell Proliferation Cartilage Development Embryonic Skeletal Joint Morphogenesis Cellular Response To Interleukin-1 Cellular Response To Tumor Necrosis Factor Cellular Response To PH Cellular Response To UV-B Positive Regulation Of Hyaluranon Cable Assembly
Pathways		MPS IIIB - Sanfilippo syndrome B Diseases of glycosylation Defective B4GALT7 causes EDS, progeroid type MPS I - Hurler syndrome MPS IX - Natowicz syndrome Chondroitin sulfate/dermatan sulfate metabolism Defective SLC26A2 causes chondrodysplasias Glycosaminoglycan metabolism CS/DS degradation Hyaluronan uptake and degradation Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective CHST14 causes EDS, musculocontractural type Defective PAPSS2 causes SEMD-PA MPS IIIA - Sanfilippo syndrome A Myoclonic epilepsy of Lafora Hyaluronan metabolism Defective CHST6 causes MCDC1 MPS IIID - Sanfilippo syndrome D Glycogen storage diseases MPS IIIC - Sanfilippo syndrome C Diseases associated with glycosaminoglycan metabolism Mucopolysaccharidoses Defective EXT2 causes exostoses 2 MPS II - Hunter syndrome Defective CHST3 causes SEDCJD Defective B3GAT3 causes JDSSDHD Defective EXT1 causes exostoses 1, TRPS2 and CHDS MPS IV - Morquio syndrome A MPS IV - Morquio syndrome B Defective CHSY1 causes TPBS Metabolism of carbohydrates MPS VII - Sly syndrome MPS VI - Maroteaux-Lamy syndrome
Drugs
Diseases
GWAS
Protein-protein Interactions		1 interactors: COL2A1
Entrez ID		3373
HPRD ID		06146
Ensembl ID		ENSG00000114378
Uniprot IDs		B3KUI5 Q12794
PDB IDs		2PE4
Enriched GO Terms of Interacting Partners?		Limb Bud Formation Otic Vesicle Development Embryonic Skeletal Joint Morphogenesis Embryonic Skeletal Joint Development Notochord Development Cartilage Condensation Cellular Response To BMP Stimulus Cartilage Development Involved In Endochondral Bone Morphogenesis Endochondral Ossification Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Collagen Fibril Organization Collagen Catabolic Process Collagen Metabolic Process Endochondral Bone Morphogenesis Multicellular Organismal Macromolecule Metabolic Process Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Chondrocyte Differentiation Multicellular Organismal Metabolic Process Extracellular Matrix Disassembly Inner Ear Morphogenesis Proteoglycan Metabolic Process Palate Development Bone Morphogenesis Ear Morphogenesis Embryonic Skeletal System Morphogenesis Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Sensory Perception Of Sound Embryonic Skeletal System Development Visual Perception Sensory Perception Of Light Stimulus Tissue Homeostasis Limb Morphogenesis Sensory Perception Of Mechanical Stimulus Inner Ear Development Cartilage Development Regulation Of Extrinsic Apoptotic Signaling Pathway Limb Development Heart Morphogenesis Bone Development Ear Development Multicellular Organismal Homeostasis Connective Tissue Development Negative Regulation Of Apoptotic Signaling Pathway Skeletal System Morphogenesis Ossification Embryonic Organ Morphogenesis Extracellular Matrix Organization Extracellular Structure Organization Axon Guidance Glycoprotein Metabolic Process
Tagcloud ?		asn asparagine attenuated defect degrades demonstrated directed enzymatic enzyme functions glycosylated glycosylation ha hyaluronic hydrolytic mass moreover mutation n predicted regulated residues secretion significance site sites spectrometry three