JARID1C

Lysine (K)-specific demethylase 5C
Identifiers
Symbols KDM5C; DXS1272E; JARID1C; MRXJ; MRXSJ; SMCX; XE169
External IDs OMIM: 314690 MGI: 99781 HomoloGene: 79498 GeneCards: KDM5C Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 8242 20591
Ensembl ENSG00000126012 ENSMUSG00000025332
UniProt P41229 Q05CE7
RefSeq (mRNA) NM_001146702.1 NM_013668.3
RefSeq (protein) NP_001140174.1 NP_038696.2
Location (UCSC) Chr X:
53.22 – 53.25 Mb		 Chr X:
148.67 – 148.71 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. 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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8242. 

Further reading

External links

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