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JARID1C: Wikis


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Jumonji, AT rich interactive domain 1C
External IDs OMIM314690 MGI99781 HomoloGene79498 GeneCards: JARID1C Gene
RNA expression pattern
PBB GE JARID1C 202383 at tn.png
More reference expression data
Species Human Mouse
Entrez 8242 20591
Ensembl ENSG00000126012 ENSMUSG00000025332
UniProt P41229 Q05CE7
RefSeq (mRNA) NM_004187 NM_013668
RefSeq (protein) NP_004178 NP_038696
Location (UCSC) Chr X:
53.24 - 53.27 Mb
Chr X:
147.57 - 147.61 Mb
PubMed search [1] [2]

Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene.[1][2][3]

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.[3]


  1. ^ 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 Genet 3 (6): 879-84. PMID 7951230.  
  2. ^ 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 Genet 3 (1): 153-60. PMID 8162017.  
  3. ^ a b "Entrez Gene: JARID1C jumonji, AT rich interactive domain 1C".  

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. 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

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



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