RC3H1 (Ring Finger and CCCH-Type Zinc Finger Domains 1)
Regulator of mRNA stability and immune signaling
Gene Information Card
| Symbol | RC3H1 |
|---|---|
| Full Name | Ring Finger and CCCH-Type Zinc Finger Domains 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.1 |
| NCBI Gene ID | 149041 ncbi.nlm.nih.gov/gene/149041 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q5TC82 |
| OMIM ID | 609424 |
| HGNC ID | 29114 |
| Aliases | RNF198, MNAB, ROQUIN |
Description
RC3H1 encodes a protein containing a RING finger domain and CCCH-type zinc finger motifs. It functions as an E3 ubiquitin ligase and RNA-binding protein that regulates mRNA stability, particularly of immune-related transcripts. RC3H1 is involved in T-cell activation, germinal center formation, and autoimmunity prevention.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome-like disease | Loss-of-function mutations impair mRNA decay of target transcripts, leading to dysregulated immune responses | ClinVar, OMIM |
| Systemic lupus erythematosus (susceptibility) | Altered RC3H1 expression affects B-cell tolerance and autoantibody production | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Whole blood | 6.2 | Low |
| Bone marrow | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| Jurkat | 22.1 | High expression |
| HeLa | 9.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1570C>T (p.Arg524*) | Nonsense | Rare | Loss of function; associated with immune dysregulation |
| c.2026G>A (p.Gly676Arg) | Missense | Rare | Impaired RNA binding; linked to autoimmunity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing E3 ligase activity and mRNA decay.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Missense mutations in the CCCH domain may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • mRNA binding | • ubiquitin-protein transferase activity |
| • zinc ion binding | • regulation of mRNA stability |
| • immune system process |
Pathways
• mRNA surveillance pathway
• Ubiquitin mediated proteolysis
Protein Summary
The RC3H1 protein (Roquin-1) is a 1,258-amino-acid E3 ubiquitin ligase and RNA-binding protein. It contains a RING finger domain for ubiquitination and CCCH zinc fingers for mRNA recognition. Roquin-1 promotes degradation of mRNAs encoding costimulatory molecules (e.g., ICOS, OX40), thereby controlling T-cell activation and preventing autoimmunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RC3H1 Knockout HEK293 Cell Line | EDJ-KQ10221 | Human | 149041 | Details Get a Quote |
| RC3H1 Knockout A-549 Cell Line | EDJ-KQ38692 | Human | 149041 | Details Get a Quote |
| RC3H1 Knockout HCT 116 Cell Line | EDJ-KQ38693 | Human | 149041 | Details Get a Quote |
| RC3H1 Knockout HeLa Cell Line | EDJ-KQ38694 | Human | 149041 | Details Get a Quote |
