KDM5C

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KDM5C
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKDM5C, DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169, lysine demethylase 5C
External IDsMGI: 99781 HomoloGene: 79498 GeneCards: KDM5C
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for KDM5C
Genomic location for KDM5C
BandXp11.22Start53,191,321 bp[1]
End53,225,422 bp[1]
RNA expression pattern
PBB GE JARID1C 202383 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013668

RefSeq (protein)

NP_038696

Location (UCSC)Chr X: 53.19 – 53.23 MbChr X: 152.23 – 152.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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[edit]

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[edit]

  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[edit]

External links[edit]

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