KDM5C

Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene.[5][6][7] KDM5C belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.

KDM5C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JRZ, 5FWJ
Identifiers
Aliases	KDM5C, DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169, lysine demethylase 5C
External IDs	OMIM: 314690 MGI: 99781 HomoloGene: 79498 GeneCards: KDM5C
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.22 Start 53,191,321 bp[1] End 53,225,422 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F3|X 68.46 cM Start 152,233,020 bp[2] End 152,274,535 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • oxidoreductase activity • dioxygenase activity • metal ion binding • histone demethylase activity • zinc ion binding • histone demethylase activity (H3-K4 specific) • GO:0001948 protein binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • chromatin binding • histone demethylase activity (H3-trimethyl-K4 specific) • methylated histone binding Cellular component • cell nucleus • nucleoplasm • cytosol • histone methyltransferase complex Biological process • negative regulation of transcription, DNA-templated • regulation of transcription, DNA-templated • oxidation-reduction process • transcription, DNA-templated • rhythmic process • response to toxic substance • histone H3-K4 demethylation • chromatin organization • regulation of transcription from RNA polymerase II promoter • negative regulation of transcription from RNA polymerase II promoter • histone H3-K4 demethylation, trimethyl-H3-K4-specific • chromatin remodeling Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8242	20591
Ensembl	ENSG00000126012	ENSMUSG00000025332
UniProt	P41229	P41230
RefSeq (mRNA)	NM_001146702 NM_001282622 NM_004187 NM_001353978 NM_001353979 NM_001353981 NM_001353982 NM_001353984	NM_013668
RefSeq (protein)	NP_001140174 NP_001269551 NP_004178 NP_001340907 NP_001340908 NP_001340910 NP_001340911 NP_001340913	NP_038696
Location (UCSC)	Chr X: 53.19 – 53.23 Mb	Chr X: 152.23 – 152.27 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 motif suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked intellectual disability. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000126012 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025332 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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.