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Gene Review

KDM5C  -  lysine (K)-specific demethylase 5C

Homo sapiens

Synonyms: DXS1272E, Histone demethylase JARID1C, JARID1C, Jumonji/ARID domain-containing protein 1C, Lysine-specific demethylase 5C, ...
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Disease relevance of JARID1C


High impact information on JARID1C

  • Importantly, studies in zebrafish and primary mammalian neurons demonstrated a role for SMCX in neuronal survival and dendritic development and a link to the demethylase activity [1].
  • Significantly, several XLMR-patient point mutations reduced SMCX demethylase activity and binding to H3K9me3 peptides, respectively [1].
  • SMCX bound H3K9me3 via its N-terminal PHD (plant homeodomain) finger, which may help coordinate H3K4 demethylation and H3K9 methylation in transcriptional repression [1].
  • Here we demonstrate that the JARID1 proteins RBP2, PLU1, and SMCX are histone demethylases specific for di- and trimethylated histone 3 lysine 4 (H3K4) [3].
  • The X-Linked Mental Retardation Gene SMCX/JARID1C Defines a Family of Histone H3 Lysine 4 Demethylases [1].

Biological context of JARID1C

  • Using direct in situ hybridisation Smcx was mapped to the distal end of the mouse X chromosome (XF2-XF4) and its human homologue, SMCX, was mapped to proximal Xp (Xp11.1-Xp11.2) [4].
  • As Smcx/SMCX have widely expressed homologues on the Y chromosome, they appeared good candidates for genes that escape X-inactivation [4].
  • In the human we show this to be the case as SMCX is expressed in hamster-human hybrids containing either an active or inactive human X chromosome [4].
  • Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation [5].
  • In two of these families, expression studies revealed the almost complete absence of the mutated JARID1C transcript, suggesting that the phenotype in these families results from functional loss of the JARID1C protein [5].

Anatomical context of JARID1C


Associations of JARID1C with chemical compounds

  • This work reports the first vibrational spectroscopic characterization of Sc, Y, and La reaction products with CS2 and OCS and the subsequent interconversion between SMCX and S-M(eta2-CX) structural isomers [7].

Other interactions of JARID1C


Analytical, diagnostic and therapeutic context of JARID1C


  1. The X-Linked Mental Retardation Gene SMCX/JARID1C Defines a Family of Histone H3 Lysine 4 Demethylases. Iwase, S., Lan, F., Bayliss, P., de la Torre-Ubieta, L., Huarte, M., Qi, H.H., Whetstine, J.R., Bonni, A., Roberts, T.M., Shi, Y. Cell (2007) [Pubmed]
  2. A novel, essential control for clonality analysis with human androgen receptor gene polymerase chain reaction. van Dijk, J.P., Heuver, L.H., van der Reijden, B.A., Raymakers, R.A., de Witte, T., Jansen, J.H. Am. J. Pathol. (2002) [Pubmed]
  3. RBP2 Belongs to a Family of Demethylases, Specific for Tri-and Dimethylated Lysine 4 on Histone 3. Christensen, J., Agger, K., Cloos, P.A., Pasini, D., Rose, S., Sennels, L., Rappsilber, J., Hansen, K.H., Salcini, A.E., Helin, K. Cell (2007) [Pubmed]
  4. A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Agulnik, A.I., Mitchell, M.J., Mattei, M.G., Borsani, G., Avner, P.A., Lerner, J.L., Bishop, C.E. Hum. Mol. Genet. (1994) [Pubmed]
  5. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Jensen, L.R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A.R., Tariverdian, G., Chelly, J., Fryns, J.P., Van Esch, H., Kleefstra, T., Hamel, B., Moraine, C., Gecz, J., Turner, G., Reinhardt, R., Kalscheuer, V.M., Ropers, H.H., Lenzner, S. Am. J. Hum. Genet. (2005) [Pubmed]
  6. Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. Wu, J., Ellison, J., Salido, E., Yen, P., Mohandas, T., Shapiro, L.J. Hum. Mol. Genet. (1994) [Pubmed]
  7. Reactions of group 3 transition metal atoms with CS2 and OCS: Matrix isolation infrared spectra and density-functional calculations of SMCS, SM-(eta2-CS), SMCO, and SM-(eta2-CO) in solid argon. Baker, A.B., Andrews, L. The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment & general theory. (2006) [Pubmed]
  8. Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven. Agulnik, A.I., Bishop, C.E., Lerner, J.L., Agulnik, S.I., Solovyev, V.V. Mamm. Genome (1997) [Pubmed]
  9. The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Brown, C.J., Miller, A.P., Carrel, L., Rupert, J.L., Davies, K.E., Willard, H.F. Hum. Mol. Genet. (1995) [Pubmed]
  10. Gene trap capture of a novel mouse gene, jumonji, required for neural tube formation. Takeuchi, T., Yamazaki, Y., Katoh-Fukui, Y., Tsuchiya, R., Kondo, S., Motoyama, J., Higashinakagawa, T. Genes Dev. (1995) [Pubmed]
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