SIAE: Sialic Acid Acetylesterase – Gene Overview and Clinical Significance
Comprehensive biomedical profile of SIAE, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SIAE |
|---|---|
| Full Name | sialic acid acetylesterase |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 54414 ncbi.nlm.nih.gov/gene/54414 |
| Ensembl ID | ENSG00000110427 |
| UniProt ID | Q9HAT2 |
| OMIM ID | 610045 |
| HGNC ID | 17960 |
| Aliases | CSAE, LSE, YSG2, FLJ11286, MGC138211, MGC138213 |
Description
SIAE encodes sialic acid acetylesterase, an enzyme that removes O-acetyl groups from sialic acids on glycoproteins and glycolipids. This modification regulates immune cell signaling and B-cell tolerance. Loss-of-function variants in SIAE are associated with susceptibility to autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | Impaired B-cell tolerance due to reduced sialic acid acetylesterase activity | Association study (PMID: 23583980) |
| Systemic lupus erythematosus | Loss-of-function variants lead to defective B-cell regulation | Association study (PMID: 23583980) |
| Type 1 diabetes | Potential role in autoimmune susceptibility | Candidate gene study (PMID: 23583980) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.3 | Low |
| Whole blood | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line |
| HEK 293 | 9.7 | Embryonic kidney |
| HeLa | 7.4 | Cervical carcinoma |
| HepG2 | 5.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.115C>T (p.Arg39Cys) | Missense | Rare | Reduced enzymatic activity; associated with autoimmune risk |
| c.296G>A (p.Arg99His) | Missense | Rare | Impaired B-cell tolerance |
| c.794C>T (p.Thr265Met) | Missense | Rare | Decreased acetylesterase activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg39Cys, p.Arg99His) reduce or abolish sialic acid acetylesterase activity, impairing B-cell tolerance and increasing autoimmune susceptibility.
Gain of Function (GOF)
No gain-of-function mutations reported in SIAE.
Dominant Negative (DN)
No dominant-negative mutations reported in SIAE.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • hydrolase activity (GO:0016787) | • sialic acid acetylesterase activity (GO:0052795) |
| • signal transduction (GO:0007165) | • B cell receptor signaling pathway (GO:0050853) |
Pathways
• Metabolism of sialic acids (Reactome: R-HSA-4085001)
• B cell receptor signaling (Reactome: R-HSA-983695)
Protein Summary
Sialic acid acetylesterase (UniProt Q9HAT2) is a 523-amino acid cytoplasmic enzyme that catalyzes the removal of O-acetyl groups from sialic acids. It is highly expressed in lymphoid tissues and plays a critical role in regulating B-cell receptor signaling and immune tolerance. Structural studies indicate a serine hydrolase fold with a catalytic triad (Ser-153, Asp-176, His-279).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SIAE Knockout HEK293 Cell Line | EDJ-KQ11409 | Human | 54414 | Details Get a Quote |
| SIAE Knockout A-549 Cell Line | EDJ-KQ39632 | Human | 54414 | Details Get a Quote |
| SIAE Knockout HCT 116 Cell Line | EDJ-KQ39633 | Human | 54414 | Details Get a Quote |
| SIAE Knockout HeLa Cell Line | EDJ-KQ39634 | Human | 54414 | Details Get a Quote |
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