InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHRDL1

Summary

InnateDB Protein

IDBP-483871.4

Last Modified

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

Gene Symbol

CHRDL1

Protein Name

chordin-like 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000418443

InnateDB Gene

IDBG-82461 (CHRDL1)

Protein Structure

UniProt Annotation

Function

Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development. {ECO:0000250, ECO:0000269PubMed:18587495, ECO:0000269PubMed:22284829}.

Subcellular Localization

Secreted {ECO:0000305}.

Disease Associations

Megalocornea 1, X-linked (MGC1) [MIM:309300]: An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. {ECO:0000269PubMed:22284829}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the developing cornea and in the eye anterior segment in addition to the retina. Differentially expressed in the fetal brain. There is high expression in cerebellum and neocortex. Expressed in retinal pericytes. {ECO:0000269PubMed:18587495, ECO:0000269PubMed:22284829}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001503	ossification
GO:0001654	eye development
GO:0007399	nervous system development
GO:0030154	cell differentiation
GO:0030509	BMP signaling pathway
GO:0048749	compound eye development