GeneID: 406


Common Name: CXXC1-RNA5SP458 Type: Intergenic Region
Chromosome: 18 (NC_000018.10) Locus: N/A
HUGO Symbol: N/A Full Name: N/A
Exons: N/A Introns: N/A

CXXC1 (CXXC finger protein 1, CFP1) encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. It physically interacts with DNMT1 [GeneID: 365]. It is required for the survival of differentiating haematopoietic cells. RNA5SP458 (RNA, 5S ribosomal pseudogene 458) is a pseudogene. A variant located in the CXXC1-RNA5SP458 intergenic region associated with F-cell levels in sickle cell disease.

Synonyms: N/A


External Links

Publications / Origin

  1. Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011
  2. Chun KT, Li B, Dobrota E, Tate C, Lee JH, Khan S, Haneline L, HogenEsch H, Skalnik DG, The epigenetic regulator CXXC finger protein 1 is essential for murine hematopoiesis., PLoS One, 9(12), e113745, 2014
Created on 2020-10-15 11:40:22, Last reviewed on (Show full history)

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