InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHD7

Summary

InnateDB Protein

IDBP-593404.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHD7

Protein Name

chromodomain helicase DNA binding protein 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000436027

InnateDB Gene

IDBG-22967 (CHD7)

Protein Structure

UniProt Annotation

Function

Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269PubMed:22646239}.

Subcellular Localization

Isoform 1: Nucleus.Isoform 3: Nucleus, nucleolus.

Disease Associations

CHARGE syndrome (CHARGES) [MIM:214800]: 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. {ECO:0000269PubMed:15300250, ECO:0000269PubMed:16400610, ECO:0000269PubMed:18074359, ECO:0000269PubMed:21158681, ECO:0000269PubMed:21554267, ECO:0000269PubMed:21931733, ECO:0000269PubMed:22461308, ECO:0000269PubMed:22462537}. Note=The disease is caused by mutations affecting the gene represented in this entry.Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. {ECO:0000269PubMed:17436250}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. 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 the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269PubMed:18834967}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in fetal and adult tissues. {ECO:0000269PubMed:15300250, ECO:0000269PubMed:22646239}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	36 [view]
Protein-Protein	36 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0004386	helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016787	hydrolase activity

Biological Process

GO:0001501	skeletal system development
GO:0001701	in utero embryonic development
GO:0003007	heart morphogenesis
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006364	rRNA processing
GO:0007417	central nervous system development
GO:0016568	chromatin modification
GO:0021545	cranial nerve development
GO:0030217	T cell differentiation
GO:0042472	inner ear morphogenesis
GO:0043584	nose development
GO:0048806	genitalia development
GO:0050890	cognition
GO:0060021	palate development
GO:0060041	retina development in camera-type eye
GO:0060123	regulation of growth hormone secretion
GO:0060173	limb development
GO:0060324	face development

Cellular Component

GO:0005634

nucleus

Protein Structure and Domains

PDB ID

InterPro

IPR000330 SNF2-related
IPR000953 Chromo domain/shadow
IPR006935 Helicase/UvrB domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR016197 Chromo domain-like
IPR023780 Chromo domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00176
PF04851
PF00385

PRINTS

PIRSF

SMART

SM00298
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9P2D1