Biology:KDM5C
 Generic protein structure example |
Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene.[1][2][3] KDM5C belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.
Function
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 motif suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked intellectual disability. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[3]
See also
- Xp11.2 duplication, section KDM5C
References
- ↑ "A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human". Human Molecular Genetics 3 (6): 879–84. Jun 1994. doi:10.1093/hmg/3.6.879. PMID 7951230.
- ↑ "Isolation and characterization of XE169, a novel human gene that escapes X-inactivation". Human Molecular Genetics 3 (1): 153–60. Jan 1994. doi:10.1093/hmg/3.1.153. PMID 8162017.
- ↑ 3.0 3.1 "Entrez Gene: JARID1C jumonji, AT rich interactive domain 1C". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8242.
Further reading
- "Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches". Molecular Biology and Evolution 21 (2): 384–96. Feb 2004. doi:10.1093/molbev/msh027. PMID 14660691.
- "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America 101 (33): 12130–5. Aug 2004. doi:10.1073/pnas.0404720101. PMID 15302935. Bibcode: 2004PNAS..10112130B.
- "Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation". American Journal of Human Genetics 76 (2): 227–36. Feb 2005. doi:10.1086/427563. PMID 15586325.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. Jan 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "A novel mutation in JARID1C gene associated with mental retardation". European Journal of Human Genetics 14 (5): 583–6. May 2006. doi:10.1038/sj.ejhg.5201608. PMID 16538222.
- "Novel JARID1C/SMCX mutations in patients with X-linked mental retardation". Human Mutation 27 (4): 389. Apr 2006. doi:10.1002/humu.9420. PMID 16541399.
- "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology 24 (10): 1285–92. Oct 2006. doi:10.1038/nbt1240. PMID 16964243.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. Nov 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases". Cell 128 (6): 1077–88. Mar 2007. doi:10.1016/j.cell.2007.02.017. PMID 17320160.
- "The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation". Nature 447 (7144): 601–5. May 2007. doi:10.1038/nature05823. PMID 17468742. Bibcode: 2007Natur.447..601T.
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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