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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RC3H1
ring finger and CCCH-type domains 1
Chromosome 1 · 1q25.1
NCBI Gene: 149041Ensembl: ENSG00000135870.14HGNC: HGNC:29434UniProt: B7ZMB3
66PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein polyubiquitinationcytosolnuclear-transcribed mRNA catabolic processplasma membranehemophagocytic lymphohistiocytosis, familial, 6hereditary antithrombin deficiencyReduced antithrombin III activityneurodegenerative disease
✦AI Summary

RC3H1 (Roquin-1) is a multifunctional post-transcriptional regulator that maintains immune homeostasis through RNA binding and ubiquitin ligase activities. The protein recognizes and binds to conserved stem-loop motifs called constitutive decay elements (CDEs) in target mRNAs, including ICOS, TNF, and TNFRSF4, promoting their deadenylation and degradation 1. RC3H1 functions as an E3 ubiquitin ligase, producing polyubiquitin chains when paired with various E2 enzymes, with strongest activity observed with UBE2N complexes 2. In T follicular helper cells, RC3H1 prevents spontaneous differentiation and autoimmunity by repressing ICOS and TNFRSF4 expression 3. The protein also regulates TNF expression in macrophages, with its activity modulated by interactions with other proteins like MNSFβ, which can promote RC3H1 localization to stress granules and reduce its mRNA-degrading function 45. Loss of RC3H1 function leads to autoimmune phenotypes similar to systemic lupus erythematosus, characterized by excessive T follicular helper cell activation and germinal center formation 1. Additionally, RC3H1 shows promise as a therapeutic target, as its inhibition enhances CAR T cell persistence and promotes ferroptosis in cancer cells through GPX4 regulation 62.

Sources cited
1
RC3H1 is an E3 ubiquitin ligase that maintains immune homeostasis and prevents autoimmune phenotypes
PMID: 26673963
2
RC3H1 functions as E3 ubiquitin ligase regulating GPX4 stability and ferroptosis in cancer therapy
PMID: 39739814
3
RC3H1 prevents T follicular helper cell differentiation and autoimmunity by regulating target mRNAs
PMID: 34811541
4
MNSFβ interaction affects RC3H1 localization to stress granules and TNF regulation
PMID: 39260307
5
RC3H1 interacts with MNSFβ to regulate TNF production in macrophages
PMID: 34589082
6
RC3H1 loss enhances CAR T cell function and persistence in cancer treatment
PMID: 40993381
Disease Associationsⓘ21
hemophagocytic lymphohistiocytosis, familial, 6Open Targets
0.52Moderate
hereditary antithrombin deficiencyOpen Targets
0.49Moderate
Reduced antithrombin III activityOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
hemophagocytic syndromeOpen Targets
0.23Weak
mental or behavioural disorderOpen Targets
0.18Weak
osteoarthritisOpen Targets
0.10Suggestive
inflammatory bowel diseaseOpen Targets
0.08Suggestive
coagulation protein diseaseOpen Targets
0.07Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.07Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.07Suggestive
activated PI3K-delta syndromeOpen Targets
0.06Suggestive
blood coagulation diseaseOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.06Suggestive
autoinflammatory syndrome with immunodeficiencyOpen Targets
0.06Suggestive
immunodeficiency 64Open Targets
0.06Suggestive
inflammatory bowel disease 29Open Targets
0.06Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.06Suggestive
Immune dysregulation and systemic hyperinflammation syndromeUniProt
Pathogenic Variants1
NM_172071.4(RC3H1):c.2062C>T (p.Arg688Ter)Pathogenic
Hemophagocytic lymphohistiocytosis, familial, 6
☆☆☆☆2021→ Residue 688
View on ClinVar ↗
Related Genes
CNOT6LProtein interaction100%HELZProtein interaction94%ICOSProtein interaction89%NUFIP2Protein interaction88%CNOT2Protein interaction85%CNOT3Protein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
52%
Brain
51%
Ovary
39%
Liver
38%
Heart
33%
Gene Interaction Network
Click a node to explore
RC3H1CNOT6LHELZICOSNUFIP2CNOT2CNOT3
PROTEIN STRUCTURE
Preparing viewer…
PDB4YWQ · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.36 [0.28–0.46]
RankingsWhere RC3H1 stands among ~20K protein-coding genes
  • #7,113of 20,598
    Most Researched66
  • #5,017of 5,498
    Most Pathogenic Variants1
  • #2,631of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedRC3H1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
In vivo CRISPR screens identify modifiers of CAR T cell function in myeloma.
PMID: 40993381
Nature · 2025
1.00
2
Deciphering the role of the MALT1-RC3H1 axis in regulating GPX4 protein stability.
PMID: 39739814
Proc Natl Acad Sci U S A · 2025
0.90
3
Defining the RBPome of primary T helper cells to elucidate higher-order Roquin-mediated mRNA regulation.
PMID: 34471108
Nat Commun · 2021
0.80
4
MNSFβ Regulates TNFα Production by Interacting with RC3H1 in Human Macrophages, and Dysfunction of MNSFβ in Decidual Macrophages Is Associated With Recurrent Pregnancy Loss.
PMID: 34589082
Front Immunol · 2021
0.70
5
Roquin--a multifunctional regulator of immune homeostasis.
PMID: 26673963
Genes Immun · 2016
0.60