Entity Details

Primary name CRDL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BU40
EntryNameCRDL1_HUMAN
FullNameChordin-like protein 1
TaxID9606
Evidenceevidence at transcript level
Length456
SequenceStatuscomplete
DateCreated2003-01-17
DateModified2021-06-02

Ontological Relatives

GenesCHRDL1

GO terms

Show/Hide Table
GOName
GO:0001503 ossification
GO:0001654 eye development
GO:0005576 extracellular region
GO:0005788 endoplasmic reticulum lumen
GO:0007399 nervous system development
GO:0030154 cell differentiation
GO:0038098 sequestering of BMP from receptor via BMP binding
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process

Subcellular Location

Show/Hide Table
Subcellular Location
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR001007 VWFC domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
309300 OMIMMegalocornea 1, X-linked (MGC1)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions