RC3H1

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; OMA:RC3H1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	174,022,357 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	160,802,548 bp
RNA expression pattern
	Top expressed in
	tibialis anterior muscle; ; skin of thigh; ; mucosa of ileum; ; deltoid muscle; ; buccal mucosa cell; ; skin of hip; ; skin of arm; ; pancreatic epithelial cell; ; cardiac muscle tissue of right atrium; ; trabecular bone;
	Top expressed in
	hand; ; aortic valve; ; ascending aorta; ; otolith organ; ; utricle; ; fossa; ; condyle; ; facial motor nucleus; ; Paneth cell; ; conjunctival fornix;
	More reference expression data
	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
	149041
	381305
	ENSG00000135870
	ENSMUSG00000040423
	Q5TC82
	Q4VGL6
	NM_001300850; NM_001300851; NM_001300852; NM_172071
	NM_001024952
	NP_001287779; NP_001287780; NP_001287781; NP_742068; NP_001287779.1
	NP_001020123
	Wikidata
View/Edit Human	View/Edit Mouse

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]

Function

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

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

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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000135870 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Ring finger and CCCH-type domains 1".

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RC3H1

Function

References

Further reading