HYAL1 Gene Summary [Human]
This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HYAL1 |
| Official Name | hyaluronidase 1 [Source:HGNC Symbol;Acc:HGNC:5320] |
| Ensembl ID | ENSG00000114378 |
| Bio databases IDs | |
| Aliases | hyaluronidase 1 |
| Synonyms | Fus2, Hya1, hyaluronidase 1, hyaluronoglucosaminidase 1, LUCA1, MPS9, NAT6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HYAL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hexosaminidase
- hyaluronan synthase
- enzyme
- hyalurononglucosaminidase
- hyaluronidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- urinary tract infection
- diabetes mellitus
- chronic pain
- mucopolysaccharidosis type IX
- meibomian gland dysfunction
- diabetic nephropathy
- idiopathic pulmonary fibrosis
- hip osteoarthritis
- dry eye syndrome
- osteoarthritis
role in cell
- apoptosis
- phosphorylation in
- expression in
- activation in
- growth
- proliferation
- adhesion
- cell viability
- mitosis
- cellular infiltration by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- lysosome
- lysosomal compartment
- growth cone
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HYAL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of growth
- response to antibiotic
- positive regulation of cell adhesion
- response to virus
- positive regulation of angiogenesis
- glycosaminoglycan catabolic process
- cellular response to UV-B
- positive regulation of cell growth
- inflammatory response
- chondroitin sulfate catabolic process
- negative regulation of cell growth
- cellular response to tumor necrosis factor
- positive regulation of epithelial cell migration
- positive regulation of epithelial cell proliferation
- positive regulation of G1/S transition of mitotic cell cycle
- embryonic skeletal joint morphogenesis
- cellular response to platelet-derived growth factor stimulus
- cellular response to fibroblast growth factor stimulus
- response to reactive oxygen species
- positive regulation of hyaluranon cable assembly
- carbohydrate metabolic process
- cellular response to interleukin-1
- cellular response to pH
- hyaluronan biosynthetic process
- hyaluronan metabolic process
- cartilage development
- hyaluronan catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- cytoplasm
- cytoplasmic vesicle
- lysosomal lumen
- hyaluranon cable
- lysosome
Molecular Function
What the gene product does at the molecular level
- hyalurononglucosaminidase activity
- viral receptor activity
- chondroitin hydrolase activity
- hyaluronan synthase activity