HYAL1

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]

Full Name

hyaluronoglucosaminidase 1

Function

May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.

Biological Process

Carbohydrate metabolic process Source: InterPro
Cartilage development Source: UniProtKB
Cellular response to fibroblast growth factor stimulus Source: UniProtKB
Cellular response to interleukin-1 Source: UniProtKB
Cellular response to pH Source: UniProtKB
Cellular response to platelet-derived growth factor stimulus Source: UniProtKB
Cellular response to tumor necrosis factor Source: UniProtKB
Cellular response to UV-B Source: UniProtKB
Chondroitin sulfate catabolic process Source: Reactome
Embryonic skeletal joint morphogenesis Source: Ensembl
Hyaluronan biosynthetic process Source: UniProtKB
Hyaluronan catabolic process Source: UniProtKB
Hyaluronan metabolic process Source: UniProtKB
Inflammatory response Source: UniProtKB
Negative regulation of cell growth Source: UniProtKB
Positive regulation of angiogenesis Source: UniProtKB
Positive regulation of cell adhesion Source: UniProtKB
Positive regulation of cell growth Source: UniProtKB
Positive regulation of epithelial cell migration Source: UniProtKB
Positive regulation of epithelial cell proliferation Source: UniProtKB
Positive regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
Positive regulation of growth Source: UniProtKB
Positive regulation of hyaluranon cable assembly Source: UniProtKB
Response to antibiotic Source: UniProtKB
Response to reactive oxygen species Source: UniProtKB
Response to virus Source: UniProtKB

Cellular Location

Lysosome; Secreted

Involvement in disease

Mucopolysaccharidosis 9 (MPS9):
A lysosomal storage disease characterized by high hyaluronan concentration in the serum. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement.