Rc3h1 RING CCCH (C3H) domains 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rc3h1provided by MGI
Official Full Name: RING CCCH (C3H) domains 1provided by MGI
Primary source: MGI:MGI:2685397
See related: Ensembl:ENSMUSG00000040423 AllianceGenome:MGI:2685397
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm551; mKIAA2025; 5730557L09Rik
Summary: Enables RNA binding activity and zinc ion binding activity. Involved in several processes, including P-body assembly; negative regulation of lymphocyte activation; and regulation of RNA metabolic process. Acts upstream of or within several processes, including T cell activation; hematopoietic or lymphoid organ development; and lymphocyte homeostasis. Located in P-body and cytoplasmic stress granule. Used to study peripheral T-cell lymphoma and systemic lupus erythematosus. Orthologous to human RC3H1 (ring finger and CCCH-type domains 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 5.7), thymus adult (RPKM 5.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H2.1; 1 69.75 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (160733981..160802546)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (160906411..160974976)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unrestrained cleavage of Roquin-1 by MALT1 induces spontaneous T cell activation and the development of autoimmunity.
Title: Unrestrained cleavage of Roquin-1 by MALT1 induces spontaneous T cell activation and the development of autoimmunity.
Genome-wide fitness gene identification reveals Roquin as a potent suppressor of CD8 T cell expansion and anti-tumor immunity.
Title: Genome-wide fitness gene identification reveals Roquin as a potent suppressor of CD8 T cell expansion and anti-tumor immunity.
Disrupting Roquin-1 interaction with Regnase-1 induces autoimmunity and enhances antitumor responses.
Title: Disrupting Roquin-1 interaction with Regnase-1 induces autoimmunity and enhances antitumor responses.
Roquin-1 Regulates Macrophage Immune Response and Participates in Hepatic Ischemia-Reperfusion Injury.
Title: Roquin-1 Regulates Macrophage Immune Response and Participates in Hepatic Ischemia-Reperfusion Injury.
In mice, loss of post-transcriptional regulation by Roquin-1 results in increased expression of ICOS and Ox40 in T cells. In the absence of Roquin-1, mice develop an immunopathology characterized by the expansion of effector T cells and Tregs, monocytosis and eosinophilia.
Title: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
analysis of previously unknown cis-regulatory elements in Roquin protein
Title: Identification of new high affinity targets for Roquin based on structural conservation.
most Roquin targets are regulated by mRNA decay, whereas a small subset, including the Nfat5 mRNA, with more binding sites in their 3'-UTRs, are also subject to translational inhibition.
Title: Roquin targets mRNAs in a 3'-UTR-specific manner by different modes of regulation.
Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA.
Title: Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA.
mutations of both Regnase-1 and Roquin in T cells leads to massive lymphocyte activation and increased TH1 cells. In contrast, mutation of either Regnase-1 or Roquin affected T cell activation to a lesser extent than the double mutation, indicating that Regnase-1 and Roquin function nonredundantly in T cells. Regnase-1 is capable of repressing Roquin mRNA.
Title: Regnase-1 and Roquin Nonredundantly Regulate Th1 Differentiation Causing Cardiac Inflammation and Fibrosis.
Roquin-mediated control of PI3K-mTOR signaling prevents autoimmunity by restraining activation and differentiation of conventional T cells and specialization of Treg cells.
Title: Roquin Suppresses the PI3K-mTOR Signaling Pathway to Inhibit T Helper Cell Differentiation and Conversion of Treg to Tfr Cells.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3) 1 citation
Gene trapped (1)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:234249

RH125050 (e-PCR)
- UniSTS:161872

AA997206 (e-PCR)
- UniSTS:248409

18.MMHAP50FLF3.seq (e-PCR)
- UniSTS:123384

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables CCR4-NOT complex binding	IEA Inferred from Electronic Annotation more info
enables CCR4-NOT complex binding	ISO Inferred from Sequence Orthology more info
enables RNA stem-loop binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA stem-loop binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA stem-loop binding	ISO Inferred from Sequence Orthology more info
enables double-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded RNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA destabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in 3'-UTR-mediated mRNA destabilization	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within B cell homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in P-body assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within T cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T follicular helper cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to interleukin-1	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within lymph node development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T-helper 17 cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of T-helper cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of activated T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of germinal center formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in nuclear-transcribed mRNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of mRNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within post-transcriptional regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in post-transcriptional regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of germinal center formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mRNA stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of miRNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IEA Inferred from Electronic Annotation more info
involved_in regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spleen development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in P-body	IDA Inferred from Direct Assay more info	PubMed
located_in P-body	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: roquin-1

Names: RING finger and C3H zinc finger protein 1; RING finger and CCCH-type zinc finger domain-containing protein 1; probable E3 ubiquitin-protein ligase Roquin; protein Sanroque; roquin

NP_001020123.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.