CHD1L

Chromodomain helicase DNA binding protein 1-like
Identifiers
SymbolsCHD1L ; ALC1; CHDL
External IDsOMIM: 613039 MGI: 1915308 HomoloGene: 11590 GeneCards: CHD1L Gene
EC number3.6.4.12
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez955768058
EnsemblENSG00000131778ENSMUSG00000028089
UniProtQ86WJ1Q9CXF7
RefSeq (mRNA)NM_001256336NM_026539
RefSeq (protein)NP_001243265NP_080815
Location (UCSC)Chr 1:
146.71 – 146.77 Mb
Chr 3:
97.56 – 97.61 Mb
PubMed search

Chromodomain-helicase-DNA-binding protein 1-like is an enzyme that in humans is encoded by the CHD1L gene.[1][2] It has been implicated in chromatin remodeling and DNA relaxation process required for DNA replication, repair and transcription.

Related gene problems

With 1q21.1 deletion syndrome a disturbance occurs, which leads to increased DNA breaks. The role of CHD1L is similar to that of helicase with the Werner syndrome[3]

References

  1. Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z (Aug 1998). "Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proc Natl Acad Sci U S A 95 (14): 8175–80. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.
  2. "Entrez Gene: CHD1L chromodomain helicase DNA binding protein 1-like".
  3. Understanding the impact of 1q21.1 Copy Number Variant; C. Harvard et al; Orphanet Journal of Rare Diseases 2011, 6:54; doi:10.1186/1750-1172-6-54

Further reading