RC3H1

Ring finger and CCCH-type domains 1, also known as Roquin-1, is a protein that in humans is encoded by the RC3H1 gene.^[5]

RC3H1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3X1O, 4QIK, 4QIL, 4ULW, 4YWQ
Identifiers
Aliases	RC3H1, RNF198, ROQUIN, ring finger and CCCH-type domains 1, FHL6, IMDSHY
External IDs	OMIM: 609424 MGI: 2685397 HomoloGene: 19036 GeneCards: RC3H1
Gene location (Human) Chr. Chromosome 1 (human)^[1] Band 1q25.1 Start 173,931,084 bp^[1] End 174,022,357 bp^[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)^[2] Band 1|1 H2.1 Start 160,733,988 bp^[2] End 160,802,548 bp^[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibialis anterior muscle deltoid muscle pancreatic epithelial cell spongy bone middle temporal gyrus bronchial epithelial cell oral cavity quadriceps femoris muscle bone marrow cells vastus lateralis muscle Top expressed in hand aortic valve ascending aorta otolith organ utricle fossa condyle facial motor nucleus Paneth cell conjunctival fornix More reference expression data BioGPS n/a
Gene ontology Molecular function ubiquitin protein ligase activity metal ion binding mRNA binding RNA stem-loop binding mRNA 3'-UTR binding RNA binding double-stranded RNA binding ubiquitin-protein transferase activity protein binding zinc ion binding transferase activity miRNA binding Cellular component cytoplasm P-body cytoplasmic stress granule Biological process regulation of T cell proliferation regulation of T cell activation B cell homeostasis spleen development positive regulation of NIK/NF-kappaB signaling T cell homeostasis T cell proliferation regulation of gene expression lymph node development T follicular helper cell differentiation negative regulation of T-helper cell differentiation regulation of mRNA stability positive regulation of mRNA catabolic process regulation of germinal center formation posttranscriptional regulation of gene expression negative regulation of germinal center formation negative regulation of B cell proliferation cellular response to interleukin-1 protein ubiquitination nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay P-body assembly regulation of T cell receptor signaling pathway nuclear-transcribed mRNA catabolic process negative regulation of activated T cell proliferation 3'-UTR-mediated mRNA destabilization protein polyubiquitination T cell receptor signaling pathway negative regulation of T-helper 17 cell differentiation regulation of miRNA metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 149041 381305 Ensembl ENSG00000135870 ENSMUSG00000040423 UniProt Q5TC82 Q4VGL6 RefSeq (mRNA) NM_001300850 NM_001300851 NM_001300852 NM_172071 NM_001024952 RefSeq (protein) NP_001287779 NP_001287780 NP_001287781 NP_742068 NP_001287779.1 NP_001020123 Location (UCSC) Chr 1: 173.93 – 174.02 Mb Chr 1: 160.73 – 160.8 Mb PubMed search ^[3] ^[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

 

The consensus primary sequence and secondary structure for the Roquin-1 (RC3H1) binding site (also called constitutive decay element (CDE)).

This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].

References

1. GRCh38: Ensembl release 89: ENSG00000135870 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040423 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Ring finger and CCCH-type domains 1".

Further reading

• Bertossi A, Aichinger M, Sansonetti P, Lech M, Neff F, Pal M, Wunderlich FT, Anders HJ, Klein L, Schmidt-Supprian M (August 2011). "Loss of Roquin induces early death and immune deregulation but not autoimmunity". The Journal of Experimental Medicine. 208 (9): 1749–56. doi:10.1084/jem.20110578. PMC 3171092. PMID 21844204.
• Leppek K, Schott J, Reitter S, Poetz F, Hammond MC, Stoecklin G (May 2013). "Roquin promotes constitutive mRNA decay via a conserved class of stem-loop recognition motifs". Cell. 153 (4): 869–81. doi:10.1016/j.cell.2013.04.016. PMID 23663784.
• Heissmeyer V, Vogel KU (May 2013). "Molecular control of Tfh-cell differentiation by Roquin family proteins". Immunological Reviews. 253 (1): 273–89. doi:10.1111/imr.12056. PMID 23550652. S2CID 22131153.
• Chang PP, Lee SK, Hu X, Davey G, Duan G, Cho JH, Karupiah G, Sprent J, Heath WR, Bertram EM, Vinuesa CG (July 2012). "Breakdown in repression of IFN-γ mRNA leads to accumulation of self-reactive effector CD8+ T cells". Journal of Immunology. 189 (2): 701–10. doi:10.4049/jimmunol.1102432. PMID 22685317.
• Athanasopoulos V, Barker A, Yu D, Tan AH, Srivastava M, Contreras N, Wang J, Lam KP, Brown SH, Goodnow CC, Dixon NE, Leedman PJ, Saint R, Vinuesa CG (May 2010). "The ROQUIN family of proteins localizes to stress granules via the ROQ domain and binds target mRNAs". The FEBS Journal. 277 (9): 2109–27. doi:10.1111/j.1742-4658.2010.07628.x. PMID 20412057.
• Yu D, Tan AH, Hu X, Athanasopoulos V, Simpson N, Silva DG, Hutloff A, Giles KM, Leedman PJ, Lam KP, Goodnow CC, Vinuesa CG (November 2007). "Roquin represses autoimmunity by limiting inducible T-cell co-stimulator messenger RNA". Nature. 450 (7167): 299–303. Bibcode:2007Natur.450..299D. doi:10.1038/nature06253. PMID 18172933. S2CID 4398665.
• Pratama A, Ramiscal RR, Silva DG, Das SK, Athanasopoulos V, Fitch J, Botelho NK, Chang PP, Hu X, Hogan JJ, Maña P, Bernal D, Korner H, Yu D, Goodnow CC, Cook MC, Vinuesa CG (April 2013). "Roquin-2 shares functions with its paralog Roquin-1 in the repression of mRNAs controlling T follicular helper cells and systemic inflammation". Immunity. 38 (4): 669–80. doi:10.1016/j.immuni.2013.01.011. PMID 23583642.
• Vinuesa CG, Cook MC, Angelucci C, Athanasopoulos V, Rui L, Hill KM, Yu D, Domaschenz H, Whittle B, Lambe T, Roberts IS, Copley RR, Bell JI, Cornall RJ, Goodnow CC (May 2005). "A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity". Nature. 435 (7041): 452–8. Bibcode:2005Natur.435..452V. doi:10.1038/nature03555. PMID 15917799. S2CID 4413889.
• Linterman MA, Rigby RJ, Wong R, Silva D, Withers D, Anderson G, Verma NK, Brink R, Hutloff A, Goodnow CC, Vinuesa CG (February 2009). "Roquin differentiates the specialized functions of duplicated T cell costimulatory receptor genes CD28 and ICOS". Immunity. 30 (2): 228–41. doi:10.1016/j.immuni.2008.12.015. PMID 19217324.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.