HAS3 Gene - Hyaluronan Synthase 3
Key enzyme in hyaluronan biosynthesis, implicated in cancer progression and inflammatory diseases
Gene Information Card
| Symbol | HAS3 |
|---|---|
| Full Name | hyaluronan synthase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 3038 ncbi.nlm.nih.gov/gene/3038 |
| Ensembl ID | ENSG00000103044 |
| UniProt ID | O00219 |
| OMIM ID | 603666 |
| HGNC ID | 4826 |
| Aliases | HAS3, hyaluronate synthase 3, hyaluronic acid synthase 3 |
Description
HAS3 (hyaluronan synthase 3) encodes a member of the hyaluronan synthase family. This enzyme synthesizes hyaluronan, a high-molecular-weight glycosaminoglycan component of the extracellular matrix. HAS3 is involved in cell adhesion, migration, proliferation, and differentiation. Overexpression is associated with various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | HAS3 overexpression increases hyaluronan production, promoting tumor cell proliferation and metastasis | PMID: 23454754 |
| Breast cancer | Elevated HAS3 expression correlates with poor prognosis and enhanced invasion via hyaluronan-CD44 signaling | PMID: 25695677 |
| Osteoarthritis | HAS3-mediated hyaluronan synthesis contributes to cartilage matrix remodeling and inflammation | PMID: 21575861 |
| Rheumatoid arthritis | Increased HAS3 expression in synovial fibroblasts leads to hyaluronan accumulation and joint inflammation | PMID: 18593766 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.7 | Medium |
| Breast | 6.2 | Low |
| Ovary | 9.1 | Low |
| Prostate | 4.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| HCT116 (colorectal cancer) | 22.1 | High expression |
| A549 (lung cancer) | 7.6 | Low expression |
| HEK293 (embryonic kidney) | 3.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003G>A (p.Gly335Ser) | missense | 0.001% | Unknown functional effect |
| c.1246C>T (p.Arg416Cys) | missense | 0.002% | Reported in COSMIC as likely neutral |
| c.1450_1451insA | frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1450_1451insA) are predicted to truncate the protein, reducing hyaluronan synthesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression is primarily transcriptional.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • Golgi apparatus (GO:0005794) |
| • plasma membrane (GO:0005886) | • cell adhesion (GO:0007155) |
| • glycosaminoglycan metabolic process (GO:0030203) | • hyaluronan synthase activity (GO:0030574) |
| • positive regulation of cellular component movement (GO:0051272) |
Pathways
• Hyaluronan biosynthesis (Reactome: R-HSA-2142850)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• CD44-mediated signaling (KEGG: hsa04512)
Protein Summary
HAS3 is a 554-amino-acid transmembrane protein localized to the plasma membrane and Golgi apparatus. It catalyzes the addition of glucuronic acid and N-acetylglucosamine to hyaluronan chains. The protein has multiple transmembrane domains and a central cytoplasmic loop essential for catalytic activity. Hyaluronan produced by HAS3 is typically of lower molecular weight compared to HAS1/HAS2, influencing cell signaling and matrix remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAS3 Knockout HEK293 Cell Line | EDJ-KQ4843 | Human | 3038 | Details Get a Quote |
| HAS3 Knockout HCT 116 Cell Line | EDJ-KQ26410 | Human | 3038 | Details Get a Quote |
| HAS3 Knockout A-549 Cell Line | EDJ-KQ27626 | Human | 3038 | Details Get a Quote |
| HAS3 Knockout HeLa Cell Line | EDJ-KQ53491 | Human | 3038 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
