Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5Cgene.
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.
^Agulnik AI, Mitchell MJ, Mattei MG, Borsani G, Avner PA, Lerner JL, Bishop CE (Nov 1994). "A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human". Hum Mol Genet3 (6): 879–84. doi:10.1093/hmg/3.6.879. PMID7951230.
^Wu J, Ellison J, Salido E, Yen P, Mohandas T, Shapiro LJ (May 1994). "Isolation and characterization of XE169, a novel human gene that escapes X-inactivation". Hum Mol Genet3 (1): 153–60. doi:10.1093/hmg/3.1.153. PMID8162017.
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. PMID14660691.
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. PMID16538222.
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. PMID16541399.
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. PMID16964243.
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". Cell128 (6): 1077–88. doi:10.1016/j.cell.2007.02.017. PMID17320160.
Tahiliani M, Mei P, Fang R et al. (2007). "The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation". Nature447 (7144): 601–5. doi:10.1038/nature05823. PMID17468742.