ID:CHD7_HUMAN DESCRIPTION: RecName: Full=Chromodomain-helicase-DNA-binding protein 7; Short=CHD-7; EC=3.6.4.12; AltName: Full=ATP-dependent helicase CHD7; FUNCTION: Probable transcription regulator. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: May interact with CTCF. Interacts with CHD8. INTERACTION: Q9HCK8-2:CHD8; NbExp=3; IntAct=EBI-3951683, EBI-4410319; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in CHD7 are a cause of CHARGE syndrome (CHARGES) [MIM:214800]. This syndrome, which is a common cause of congenital anomalies, is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. DISEASE: Defects in CHD7 are a cause of susceptibility to idiopathic scoliosis type 3 (IS3) [MIM:608765]. Idiopathic scoliosis (IS) is the most common spinal deformity in children. DISEASE: Defects in CHD7 are the cause of Kallmann syndrome type 5 (KAL5) [MIM:612370]. Kallmann syndrome is a disorder that associates hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone- synthesizing neurons. In some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous. DISEASE: Defects in CHD7 are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. SIMILARITY: Belongs to the SNF2/RAD54 helicase family. SIMILARITY: Contains 2 chromo domains. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain. SEQUENCE CAUTION: Sequence=AAH14681.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=AAH53890.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH68000.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH80627.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=BAA91113.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91116.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHD7"; WEB RESOURCE: Name=CHD7 database; URL="http://www.chd7.org/molgenis.do";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9P2D1
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
