KDM5C

Lysine (K)-specific demethylase 5C
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2JRZ​
Identifiers
Symbols	KDM5C ; DXS1272E; JARID1C; MRX13; MRXJ; MRXSCJ; MRXSJ; SMCX; XE169
External IDs	OMIM: 314690 MGI: 99781 HomoloGene: 79498 GeneCards: KDM5C Gene
Gene ontology Molecular function • DNA binding • zinc ion binding • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors • histone demethylase activity (H3-K4 specific) Cellular component • nucleus • nucleoplasm Biological process • chromatin organization • transcription, DNA-templated • histone H3-K4 demethylation • negative regulation of transcription, DNA-templated • rhythmic process • oxidation-reduction process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8242	20591
Ensembl	ENSG00000126012	ENSMUSG00000025332
UniProt	P41229	P41230
RefSeq (mRNA)	NM_001146702	NM_013668
RefSeq (protein)	NP_001140174	NP_038696
Location (UCSC)	Chr X: 53.19 – 53.23 Mb	Chr X: 152.23 – 152.27 Mb
PubMed search

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

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 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 (Jun 1994). "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. doi:10.1093/hmg/3.6.879. PMID 7951230.
2. Wu J, Ellison J, Salido E, Yen P, Mohandas T, Shapiro LJ (Jan 1994). "Isolation and characterization of XE169, a novel human gene that escapes X-inactivation". Human Molecular Genetics 3 (1): 153–60. doi:10.1093/hmg/3.1.153. PMID 8162017.
3. "Entrez Gene: JARID1C jumonji, AT rich interactive domain 1C".

Further reading

• Agate RJ, Choe M, Arnold AP (Feb 2004). "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. doi:10.1093/molbev/msh027. PMID 14660691.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "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. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S (Feb 2005). "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. doi:10.1086/427563. PMC 1196368. PMID 15586325.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Santos C, Rodriguez-Revenga L, Madrigal I, Badenas C, Pineda M, Milà M (May 2006). "A novel mutation in JARID1C gene associated with mental retardation". European Journal of Human Genetics 14 (5): 583–6. doi:10.1038/sj.ejhg.5201608. PMID 16538222.
• Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen LR (Apr 2006). "Novel JARID1C/SMCX mutations in patients with X-linked mental retardation". Human Mutation 27 (4): 389. doi:10.1002/humu.9420. PMID 16541399.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (Oct 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 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, de la Torre-Ubieta L, Huarte M, Qi HH, Whetstine JR, Bonni A, Roberts TM, Shi Y (Mar 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, Leonor T, Rutenberg M, Shimizu F, Li J, Rao A, Shi Y (May 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

• 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.