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NM_001353981
NM_001353982
NM_001353984

NM_013668

RefSeq (protein)

NP_038696

Location (UCSC) Chr X: 53.19 – 53.23 Mb Chr X: 152.23 – 152.27 Mb PubMed search [3] [4] Wikidata
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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.

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000126012 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025332 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. ^ a b "Entrez Gene: JARID1C jumonji, AT rich interactive domain 1C". 

Further reading

External links

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