GeneID: 406
Names
Common Name: | CXXC1-RNA5SP458 | Type: | Intergenic Region |
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Chromosome: | 18 (NC_000018.10) | Locus: | N/A |
HUGO Symbol: | N/A | Full Name: | N/A |
Exons: | N/A | Introns: | N/A |
Description:
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
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- 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 PubMed
- 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 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2020-10-15 11:40:22 | The IthaGenes Curation Team | Created |