HYAL3: Hyaluronidase 3 - Gene Overview and Clinical Significance
Comprehensive biomedical resource for HYAL3, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | HYAL3 |
|---|---|
| Full Name | hyaluronidase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.3 |
| NCBI Gene ID | 8372 ncbi.nlm.nih.gov/gene/8372 |
| Ensembl ID | ENSG00000144554 |
| UniProt ID | O43820 |
| OMIM ID | 603621 |
| HGNC ID | 5324 |
| Aliases | HYAL-3, LUCA-3, HYAL3P |
Description
HYAL3 (hyaluronidase 3) encodes a member of the hyaluronidase family of enzymes that degrade hyaluronic acid, a major component of the extracellular matrix. The protein is localized to lysosomes and is involved in hyaluronan catabolism. HYAL3 is expressed in multiple tissues, including testis, lung, and kidney. Mutations in HYAL3 have been associated with hyaluronidase deficiency and may contribute to certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyaluronidase deficiency | Loss-of-function mutations impair hyaluronan degradation, leading to accumulation in lysosomes. | ClinVar, OMIM |
| Prostate cancer | Altered HYAL3 expression may affect tumor progression and metastasis via hyaluronan remodeling. | COSMIC, NCBI Gene |
| Breast cancer | Dysregulation of hyaluronidases including HYAL3 influences tumor microenvironment. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.7 | Low |
| Liver | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| A549 | 5.6 | Lung carcinoma cells |
| MCF7 | 4.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | Rare | p.Met1?; start codon loss, likely loss of function |
| c.200C>T | missense | 0.01% | p.Thr67Ile; reduced enzymatic activity |
| c.350G>A | missense | 0.005% | p.Arg117His; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to premature stop codons or start codon loss (e.g., c.1A>G) result in truncated or absent protein, impairing hyaluronan degradation.
Gain of Function (GOF)
No gain-of-function mutations reported in HYAL3.
Dominant Negative (DN)
No dominant-negative mutations reported in HYAL3.
View complete mutation data：
Gene Ontology (GO)
| • hyaluronidase activity (GO:0004415) | • hyaluronan catabolic process (GO:0030214) |
| • lysosome (GO:0005764) | • extracellular matrix disassembly (GO:0022617) |
Pathways
• Hyaluronan metabolism (Reactome: R-HSA-2160916)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
Hyaluronidase 3 (HYAL3) is a 417-amino acid lysosomal enzyme that hydrolyzes hyaluronic acid into smaller oligosaccharides. It belongs to glycoside hydrolase family 56. The protein is encoded by the HYAL3 gene on chromosome 3p21.3. HYAL3 is widely expressed, with highest levels in testis. It plays a role in extracellular matrix remodeling and hyaluronan turnover.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HYAL3 Knockout HEK293 Cell Line | EDJ-KQ50785 | Human | 8372 | Details Get a Quote |
| HYAL3 Knockout HeLa Cell Line | EDJ-KQ54890 | Human | 8372 | Details Get a Quote |
| HYAL3 Knockout A-549 Cell Line | EDJ-KQ63377 | Human | 8372 | Details Get a Quote |
| HYAL3 Knockout HCT 116 Cell Line | EDJ-KQ71846 | Human | 8372 | Details Get a Quote |
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