JARID1C

Lysine (K)-specific demethylase 5C
Identifiers
Symbols	KDM5C; DXS1272E; JARID1C; MRXJ; MRXSJ; SMCX; XE169
External IDs	OMIM: 314690 MGI: 99781 HomoloGene: 79498 GeneCards: KDM5C Gene
Gene Ontology Molecular function • molecular_function • DNA binding • protein binding • zinc ion binding • oxidoreductase activity • oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen • metal ion binding Cellular component • cellular_component • intracellular • nucleus Biological process • regulation of transcription, DNA-dependent • biological_process • chromatin modification Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8242	20591
Ensembl	ENSG00000126012	ENSMUSG00000025332
UniProt	P41229	Q05CE7
RefSeq (mRNA)	NM_001146702.1	NM_013668.3
RefSeq (protein)	NP_001140174.1	NP_038696.2
Location (UCSC)	Chr X: 53.22 – 53.25 Mb	Chr X: 148.67 – 148.71 Mb
PubMed search	[1]	[2]

Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene.

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.

Further reading

• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. PMC 514446. PMID 15302935. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=514446. 
• 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. PMC 1196368. PMID 15586325. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1196368. 
• 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. PMC 2665286. PMID 15772651. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2665286. 
• 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. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129. 
• 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

• MeSH JARID1C+protein,+human

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