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Jumonji, AT rich interactive domain 1C
Identifiers
Symbols JARID1C; DXS1272E; MRXJ; MRXSJ; SMCX; XE169
External IDs OMIM314690 MGI99781 HomoloGene79498 GeneCards: JARID1C Gene
RNA expression pattern
PBB GE JARID1C 202383 at tn.png
More reference expression data
Orthologs
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]

References

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8242.  

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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