chromodomain-helicase-DNA-binding protein 7; CHD-7; ATP-dependent helicase CHD7 (CHD7, KIAA1416)

Function

• probable transcription regulator
• phosphorylated upon DNA damage, probably by ATM or ATR
• may interact with CTCF

ATP + H2O = ADP + phosphate

Structure

• belongs to the SNF2/RAD54 helicase family
• contains 2 chromo domains
• contains 1 helicase ATP-binding domain
• contains 1 helicase C-terminal domain

Compartment

nucleus (probable)

Alternative splicing

• named isoforms=2
• at least one isoform may be due to an intron retention

Expression

widely expressed in fetal & adult tissues

Pathology

• defects in CHD7 are a cause of
  • CHARGE syndrome
  • idiopathic hypogonadotropic hypogonadism
• genetic variations in CHD7 are associated with susceptibility to idiopathic scoliosis type 3
• defects in CHD7 are the cause of Kallmann syndrome type 5

More general terms

• chromodomain-helicase-DNA-binding protein
• phosphoprotein

Additional terms

• CHARGE syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55636
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55636
• OMIM: https://mirror.omim.org/entry/146110
• OMIM: https://mirror.omim.org/entry/214800
• OMIM: https://mirror.omim.org/entry/608765
• OMIM: https://mirror.omim.org/entry/608892
• OMIM: https://mirror.omim.org/entry/612370
• UniProt: http://www.uniprot.org/uniprot/Q9P2D1.html