SSB (Sjögren Syndrome Antigen B)

Lupus La Protein, RNA-binding protein involved in RNA metabolism and autoimmunity

Gene Information Card

Symbol SSB
Full Name Sjögren syndrome antigen B (autoantigen La)
Gene Type protein-coding
Chromosomal Location 2q31.1
NCBI Gene ID 6741 ncbi.nlm.nih.gov/gene/6741
Ensembl ID ENSG00000138385
UniProt ID P05455
OMIM ID 109090
HGNC ID 11316
Aliases La, La/SSB, LARP3, SS-B

Description

The SSB gene encodes the La protein, a 47 kDa RNA-binding protein that protects nascent RNA polymerase III transcripts from exonucleolytic degradation and facilitates their maturation. La protein also participates in RNA metabolism, including tRNA processing, and is a major autoantigen in Sjögren syndrome and systemic lupus erythematosus. Autoantibodies against SSB are diagnostic markers for these autoimmune diseases.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Sjögren syndrome Autoantibodies against SSB (La) target the La protein, contributing to glandular inflammation and dysfunction. ClinVar, OMIM
Systemic lupus erythematosus (SLE) Anti-SSB/La autoantibodies are present in a subset of SLE patients, associated with subacute cutaneous lupus and neonatal lupus. ClinVar, OMIM
Neonatal lupus erythematosus Maternal anti-SSB/La antibodies cross the placenta and cause fetal heart block and skin lesions. ClinVar, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Salivary gland 12.5 Medium
Lung 8.3 Medium
Spleen 7.1 Medium
Lymph node 6.8 Medium
Bone marrow 5.9 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 High expression
K562 10.1 Medium expression
HepG2 9.4 Medium expression
A549 8.7 Medium expression
MCF7 7.3 Medium expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Potential loss of function; not well characterized
c.124C>T (p.Arg42Cys) missense <0.01% Unknown effect; rare variant
c.365G>A (p.Arg122Gln) missense <0.01% Unknown effect; rare variant
Mutation functional classification

Loss of Function (LOF)

No well-established loss-of-function mutations reported in SSB; homozygous knockout is likely lethal in humans.

Gain of Function (GOF)

No gain-of-function mutations described for SSB.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

• RNA binding • mRNA 3'-UTR binding
• tRNA binding • nucleic acid binding
• cytoplasm • nucleus
• nucleolus • ribonucleoprotein complex

Pathways

• RNA polymerase III transcription termination
• tRNA processing
• mRNA stabilization

Protein Summary

The La protein (UniProt P05455) is a 408-amino acid RNA-binding protein with a La motif and an RRM domain. It binds to the 3'-UUU-OH trailer of nascent RNA polymerase III transcripts, protecting them from exonucleases and facilitating folding and maturation. La also interacts with viral RNAs and is involved in translation regulation. Its autoantigenic properties make it a key biomarker in autoimmune diagnostics.

Related Products

Product name Cat.No. Species Gene ID
SSBP1 Knockout HEK293 Cell Line EDJ-KQ5845 Human 6742 Details Get a Quote
SSBP2 Knockout HEK293 Cell Line EDJ-KQ8111 Human 23635 Details Get a Quote
SSBP1 Knockout HCT 116 Cell Line EDJ-KQ28044 Human 6742 Details Get a Quote
SSBP2 Knockout A-549 Cell Line EDJ-KQ33986 Human 23635 Details Get a Quote
SSBP2 Knockout HeLa Cell Line EDJ-KQ33988 Human 23635 Details Get a Quote
SSBP1 Knockout A-549 Cell Line EDJ-KQ29303 Human 6742 Details Get a Quote
SSBP1 Knockout HeLa Cell Line EDJ-KQ29305 Human 6742 Details Get a Quote
SSBP2 Knockout HCT 116 Cell Line EDJ-KQ32648 Human 23635 Details Get a Quote
SSB Knockout HEK293 Cell Line EDJ-KQ50660 Human 6741 Details Get a Quote
SSBP3 Knockout HEK293 Cell Line EDJ-KQ51125 Human 23648 Details Get a Quote
SSB Knockout HeLa Cell Line EDJ-KQ54568 Human 6741 Details Get a Quote
SSBP3 Knockout HeLa Cell Line EDJ-KQ55791 Human 23648 Details Get a Quote
SSB Knockout A-549 Cell Line EDJ-KQ63052 Human 6741 Details Get a Quote
SSBP3 Knockout A-549 Cell Line EDJ-KQ64287 Human 23648 Details Get a Quote
SSB Knockout HCT 116 Cell Line EDJ-KQ71526 Human 6741 Details Get a Quote
Contact Us
*
*
*
How did you hear about us: