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; OMA:KDM5C - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.22 Start 53,176,283 bp[1] End 53,225,422 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F3|X 68.46 cM Start 151,016,016 bp[2] End 151,057,531 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve stromal cell of endometrium right uterine tube body of uterus left ovary granulocyte right ovary ectocervix skin of leg skin of abdomen Top expressed in epithelium of lens yolk sac pineal gland neural layer of retina fossa condyle substantia nigra trigeminal ganglion retinal pigment epithelium ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding oxidoreductase activity dioxygenase activity metal ion binding histone demethylase activity zinc ion binding histone H3-methyl-lysine-4 demethylase activity protein binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific chromatin binding histone H3-tri/di/monomethyl-lysine-4 demethylase activity methylated histone binding Cellular component nucleus nucleoplasm cytosol histone methyltransferase complex Biological process negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated rhythmic process response to toxic substance histone H3-K4 demethylation chromatin organization regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II 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 NP_001390000 NP_001390001 NP_001390002 NP_001390003 NP_001390004 NP_001390005 Location (UCSC) Chr X: 53.18 – 53.23 Mb Chr X: 151.02 – 151.06 Mb PubMed search [3] [4]
Wikidata
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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]

See also

• Xp11.2 duplication, section KDM5C