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Beschreibung

Hyaluronidase-1 (UniProt: Q12794, also known as EC:3.2.1.35, Hyal-1, Hyaluronoglucosaminidase-1, Lung carcinoma protein 1, LuCa-1) is encoded by the HYAL1 (also known as LUCA1) gene (Gene ID: 3373) in human. Hyaluronidases (HYAL) catalyze the breakdown of hyaluronic acid at the &beta,1-4 linkage between N-acetyl-&beta,-D-glucosamine and D-glucuronic acid to generate smaller oligosaccharides. HYAL is an acid hydrolase with a pH optimum of ~ 3.8. It is synthesized with a signal peptide (aa 1-21), which is subsequently cleaved off to generate the mature form that is mainly present in the lysosomal compartment. In murine macrophages, HYAL1 is reportedly trafficked to the lysosomes by a Man-6-P-independent secretion/recapture mechanism mediated by the mannose receptor. Its expression is higher in the liver, kidney, and heart and weak expression is observed in lung, placenta, and skeletal muscle. It has also been detected in plasma and in urine. HYAL-1 is also responsible for the production of angiogenic HA fragments. Its presence in urine and change in expression level in bladder and prostate makes in a marker of bladder and prostate cancers. Significantly higher expression of HYA1 is observed in advanced stages of bladder cancer. Inactivating mutations of HYAL1 gene have been linked to mucopolysaccharidosis IX that is characterized by diminished stature and periarticular soft tissue masses with 40 to 90-fold higher levels of hyaluronic acid than in normal serum. (Ref.: Puissant, E., et al. (2014). Traffic. 15(5), 500-515, Chao, KL., et al. (2007). Biochemistry. 46(23), 6911-6920).