HYAL1: Hyaluronoglucosaminidase 1
A key enzyme in hyaluronan catabolism, linked to lysosomal storage disorders and tumor progression.
Gene Information Card
| Symbol | HYAL1 |
|---|---|
| Full Name | Hyaluronoglucosaminidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 3373 ncbi.nlm.nih.gov/gene/3373 |
| Ensembl ID | ENSG00000114378 |
| UniProt ID | Q12794 |
| OMIM ID | 607071 |
| HGNC ID | 5321 |
| Aliases | HYAL-1, LUCA-1, MPS9, NAT6, SPAM1 |
Description
HYAL1 encodes hyaluronoglucosaminidase 1, a lysosomal hyaluronidase that degrades hyaluronan, a major component of the extracellular matrix. This enzyme is critical for normal hyaluronan turnover. Mutations in HYAL1 cause Mucopolysaccharidosis type IX (MPS IX), a rare lysosomal storage disorder. Altered HYAL1 expression is also implicated in cancer progression and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucopolysaccharidosis type IX (MPS IX) | Loss-of-function mutations in HYAL1 lead to accumulation of hyaluronan in lysosomes, causing joint and soft tissue abnormalities. | OMIM #601492; multiple case reports |
| Bladder cancer | Reduced HYAL1 expression is associated with tumor progression and poor prognosis, possibly due to altered hyaluronan metabolism. | ClinVar; PMID: 15604238 |
| Prostate cancer | HYAL1 overexpression in some tumors may promote metastasis by degrading hyaluronan and remodeling the extracellular matrix. | COSMIC; PMID: 11595760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Spleen | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| MCF7 | 3.2 | Breast cancer cell line |
| PC3 | 2.5 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare (MPS IX) | Loss of function; premature stop codon |
| c.1361G>A (p.Gly454Asp) | Missense | Rare (MPS IX) | Loss of function; impaired enzymatic activity |
| c.482A>G (p.Tyr161Cys) | Missense | Rare (MPS IX) | Loss of function; reduced stability |
Mutation functional classification
Loss of Function (LOF)
MPS IX-associated mutations (e.g., p.Arg349*, p.Gly454Asp) result in complete or near-complete loss of hyaluronidase activity.
Gain of Function (GOF)
Not reported in HYAL1.
Dominant Negative (DN)
Not reported in HYAL1.
View complete mutation data：
Gene Ontology (GO)
| • hyalurononglucosaminidase activity (GO:0004415) | • lysosome (GO:0005764) |
| • hyaluronan catabolic process (GO:0030214) | • extracellular space (GO:0005615) |
Pathways
• Hyaluronan metabolism (Reactome: R-HSA-2160916)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
HYAL1 is a 435-amino acid lysosomal enzyme that hydrolyzes hyaluronan, a high-molecular-weight glycosaminoglycan. The protein is synthesized as a preproenzyme and processed to its active form. It functions optimally at acidic pH and is involved in extracellular matrix remodeling, cell migration, and inflammation. Deficiency leads to MPS IX, while dysregulation contributes to cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HYAL1 Knockout HEK293 Cell Line | EDJ-KQ2118 | Human | 3373 | Details Get a Quote |
| HYAL1 Knockout HeLa Cell Line | EDJ-KQ20959 | Human | 3373 | Details Get a Quote |
| HYAL1 Knockout A-549 Cell Line | EDJ-KQ22258 | Human | 3373 | Details Get a Quote |
| HYAL1 Knockout HCT 116 Cell Line | EDJ-KQ22259 | Human | 3373 | Details Get a Quote |
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