HAS1 Gene: Hyaluronan Synthase 1
Key enzyme in hyaluronan biosynthesis, implicated in cancer and inflammatory diseases
Gene Information Card
| Symbol | HAS1 |
|---|---|
| Full Name | Hyaluronan Synthase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 3036 ncbi.nlm.nih.gov/gene/3036 |
| Ensembl ID | ENSG00000105509 |
| UniProt ID | Q92819 |
| OMIM ID | 601463 |
| HGNC ID | 4818 |
| Aliases | HAS, HA synthase 1 |
Description
HAS1 encodes hyaluronan synthase 1, a transmembrane glycosyltransferase that synthesizes hyaluronan (hyaluronic acid), a major component of the extracellular matrix. Hyaluronan plays critical roles in cell adhesion, migration, proliferation, and inflammation. HAS1 expression is tightly regulated and dysregulated in various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of HAS1 increases hyaluronan production, promoting tumor growth and metastasis via CD44 signaling | PMID: 21573172 |
| Ovarian cancer | Elevated HAS1 expression correlates with poor prognosis and chemoresistance | PMID: 23429705 |
| Rheumatoid arthritis | HAS1 upregulation in synovial fibroblasts contributes to joint inflammation and pannus formation | PMID: 19035456 |
| Bladder cancer | HAS1 polymorphisms associated with increased risk and tumor progression | PMID: 20628086 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 2.3 | Low |
| Lung | 1.8 | Low |
| Breast | 1.5 | Low |
| Ovary | 1.2 | Low |
| Synovium | 3.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 4.5 | Moderate expression |
| SKOV3 (ovarian cancer) | 6.2 | High expression |
| HEK293 (embryonic kidney) | 1.0 | Low expression |
| HUVEC (endothelial) | 2.8 | Low to moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown functional effect |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Predicted damaging |
| c.1021A>G (p.Thr341Ala) | Missense | 0.02% | Benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in HAS1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in HAS1.
Dominant Negative (DN)
No dominant-negative mutations reported in HAS1.
View complete mutation data：
Gene Ontology (GO)
| • hyaluronan synthase activity (GO:0050501) | • plasma membrane (GO:0005886) |
| • hyaluronan biosynthetic process (GO:0030212) | • cell adhesion (GO:0007155) |
| • regulation of cell migration (GO:0030334) |
Pathways
• REACT:147422 – Hyaluronan biosynthesis
• KEGG:00531 – Glycosaminoglycan biosynthesis - hyaluronan
• Reactome: R-HSA-216083 – Extracellular matrix organization
Protein Summary
Hyaluronan synthase 1 (UniProt Q92819) is a 578-amino acid transmembrane protein localized to the plasma membrane. It catalyzes the addition of glucuronic acid and N-acetylglucosamine to growing hyaluronan chains. The protein has multiple transmembrane domains and a central cytoplasmic loop containing the catalytic site. HAS1 produces high-molecular-weight hyaluronan, which is involved in tissue homeostasis and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAS1 Knockout HEK293 Cell Line | EDJ-KQ4841 | Human | 3036 | Details Get a Quote |
| MFHAS1 Knockout HEK293 Cell Line | EDJ-KQ6528 | Human | 9258 | Details Get a Quote |
| MFHAS1 Knockout HeLa Cell Line | EDJ-KQ29346 | Human | 9258 | Details Get a Quote |
| MFHAS1 Knockout A-549 Cell Line | EDJ-KQ30688 | Human | 9258 | Details Get a Quote |
| MFHAS1 Knockout HCT 116 Cell Line | EDJ-KQ30689 | Human | 9258 | Details Get a Quote |
| HAS1 Knockout HeLa Cell Line | EDJ-KQ53490 | Human | 3036 | Details Get a Quote |
| HAS1 Knockout A-549 Cell Line | EDJ-KQ61962 | Human | 3036 | Details Get a Quote |
| HAS1 Knockout HCT 116 Cell Line | EDJ-KQ70442 | Human | 3036 | Details Get a Quote |
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