JARID1C

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Lysine (K)-specific demethylase 5C
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols KDM5C ; DXS1272E; JARID1C; MRX13; MRXJ; MRXSCJ; MRXSJ; SMCX; XE169
External IDs OMIM314690 MGI99781 HomoloGene79498 GeneCards: KDM5C 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 P41230
RefSeq (mRNA) NM_001146702 NM_013668
RefSeq (protein) NP_001140174 NP_038696
Location (UCSC) Chr HG1433_PATCH:
52.93 – 52.97 Mb
Chr X:
152.23 – 152.27 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[edit]

  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. doi:10.1093/hmg/3.6.879. 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. doi:10.1093/hmg/3.1.153. PMID 8162017. 
  3. ^ a b "Entrez Gene: JARID1C jumonji, AT rich interactive domain 1C". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.