JARID1C
Jumonji, AT rich interactive domain 1C, also known as JARID1C, is a human gene.[1]
This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[1]
Further reading
Further reading
- Agulnik AI, Mitchell MJ, Mattei MG; et al. (1994). “A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human”. Hum. Mol. Genet. 3 (6): 879–84. PMID 7951230.
- Wu J, Ellison J, Salido E; et al. (1994). “Isolation and characterization of XE169, a novel human gene that escapes X-inactivation”. Hum. Mol. Genet. 3 (1): 153–60. PMID 8162017.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Agate RJ, Choe M, Arnold AP (2004). “Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches”. Mol. Biol. Evol. 21 (2): 384–96. doi:10.1093/molbev/msh027. PMID 14660691.
- Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). “Large-scale characterization of HeLa cell nuclear phosphoproteins”. Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935.
- Jensen LR, Amende M, Gurok U; et al. (2005). “Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation”. Am. J. Hum. Genet. 76 (2): 227–36. doi:10.1086/427563. PMID 15586325.
- Ross MT, Grafham DV, Coffey AJ; et al. (2005). “The DNA sequence of the human X chromosome”. Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). “Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes”. Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
- Santos C, Rodriguez-Revenga L, Madrigal I; et al. (2006). “A novel mutation in JARID1C gene associated with mental retardation”. Eur. J. Hum. Genet. 14 (5): 583–6. doi:10.1038/sj.ejhg.5201608. PMID 16538222.
- Tzschach A, Lenzner S, Moser B; et al. (2006). “Novel JARID1C/SMCX mutations in patients with X-linked mental retardation”. Hum. Mutat. 27 (4): 389. doi:10.1002/humu.9420. PMID 16541399.
- Beausoleil SA, Villén J, Gerber SA; et al. (2006). “A probability-based approach for high-throughput protein phosphorylation analysis and site localization”. Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
- Olsen JV, Blagoev B, Gnad F; et al. (2006). “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks”. Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Iwase S, Lan F, Bayliss P; et al. (2007). “The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases”. Cell. 128 (6): 1077–88. doi:10.1016/j.cell.2007.02.017. PMID 17320160.
- Tahiliani M, Mei P, Fang R; et al. (2007). “The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation”. Nature. 447 (7144): 601–5. doi:10.1038/nature05823. PMID 17468742.
External links
External links
- JARID1C+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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