Alternative titles; symbols
HGNC Approved Gene Symbol: HYAL3
Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38) : 3:50,292,832-50,299,405 (from NCBI)
Triggs-Raine et al. (1999) indicated that a third hyaluronidase gene (see HYAL1, 607071, and HYAL2 ,603551) that maps to the 3p21.3 region, originally termed LUCA3 (GenBank AF040710), was defined on the basis of homology to PH-20, a sperm-specific protein. By Northern blot analysis, Csoka et al. (1999) detected expression of a 2.1-kb HYAL3 transcript that was strongest in testis and bone marrow, but relatively weak in other organs. They determined that HYAL3 encodes a predicted 417-amino acid protein.
By physical cloning methodologies and bioinformatic computational analyses, Lerman and Minna (2000) identified a number of genes, including HYAL3, in a region of chromosome 3p21.3 that is associated with a putative lung cancer tumor suppressor gene. Northern blot analysis revealed weak expression of a 2.0-kb transcript in brain and skeletal muscle. No mutations were detected in any lung cancer cell lines tested. Lerman and Minna (2000) concluded that HYAL3 is an unlikely candidate tumor suppressor gene, given the lack of detected mutations and the absence of HYAL3 expression in lung.
By genomic sequence analysis, Lerman and Minna (2000) determined that the HYAL3 gene contains 2 or 3 exons and spans 5.5 kb.
Triggs-Raine et al. (1999) mapped the HYAL3 gene to chromosome 3p21.3.
Csoka, A. B., Scherer, S. W., Stern, R. Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. Genomics 60: 356-361, 1999. [PubMed: 10493834] [Full Text: https://doi.org/10.1006/geno.1999.5876]
Lerman, M. I., Minna, J. D. The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. Cancer Res. 60: 6116-6133, 2000. [PubMed: 11085536]
Triggs-Raine, B., Salo, T. J., Zhang, H., Wicklow, B. A., Natowicz, M. R. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc. Nat. Acad. Sci. 96: 6296-6300, 1999. [PubMed: 10339581] [Full Text: https://doi.org/10.1073/pnas.96.11.6296]