SSNA1 Gene - Sjögren Syndrome Nuclear Autoantigen 1
Comprehensive gene card for SSNA1 (Sjögren syndrome nuclear autoantigen 1) including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SSNA1 |
|---|---|
| Full Name | Sjögren syndrome nuclear autoantigen 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 8636 ncbi.nlm.nih.gov/gene/8636 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | O43805 |
| OMIM ID | 604270 |
| HGNC ID | 11316 |
| Aliases | NA14, SSA1, Sjögren syndrome antigen A1 |
Description
SSNA1 (Sjögren syndrome nuclear autoantigen 1) encodes a nuclear protein that is a target of autoantibodies in Sjögren syndrome. The protein is involved in nuclear organization and may play a role in RNA processing or cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren syndrome | Autoantibodies against SSNA1 contribute to autoimmune pathology | OMIM 604270; ClinVar |
| Systemic lupus erythematosus (SLE) | Cross-reactive autoantibodies may target SSNA1 | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Testis | 6.7 | Low |
| Bone marrow | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression |
| Jurkat | 7.4 | T-cell line, moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Unknown effect |
| c.100C>T | nonsense | 0.005% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • protein binding (GO:0005515) |
Pathways
• Autoimmune disease pathway (KEGG: hsa05320)
• Systemic lupus erythematosus (KEGG: hsa05322)
Protein Summary
SSNA1 is a 14 kDa nuclear protein (UniProt O43805) that localizes to the nucleus and is recognized by autoantibodies in Sjögren syndrome. It may participate in nuclear architecture and RNA metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSNA1 Knockout HEK293 Cell Line | EDJ-KQ6309 | Human | 8636 | Details Get a Quote |
| SSNA1 Knockout A-549 Cell Line | EDJ-KQ30223 | Human | 8636 | Details Get a Quote |
| SSNA1 Knockout HCT 116 Cell Line | EDJ-KQ30224 | Human | 8636 | Details Get a Quote |
| SSNA1 Knockout HeLa Cell Line | EDJ-KQ30225 | Human | 8636 | Details Get a Quote |
