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MGP006270

UniProt Annotations

Entry Information
Gene Namechordin-like 1
Protein EntryCRDL1_HUMAN
UniProt IDQ9BU40
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q9BU40-1; Sequence=Displayed; Name=2; IsoId=Q9BU40-2; Sequence=VSP_036469, VSP_036470; Name=3; IsoId=Q9BU40-3; Sequence=VSP_043260, VSP_043261, VSP_036470; Note=No experimental confirmation available.; Name=4; IsoId=Q9BU40-4; Sequence=VSP_043260, VSP_036469, VSP_036470; Name=5; IsoId=Q9BU40-5; Sequence=VSP_043260, VSP_036470; Note=No experimental confirmation available.; Name=6; IsoId=Q9BU40-6; Sequence=VSP_043260;
DiseaseMegalocornea 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:0000269|PubMed:22284829}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAntagonizes 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:0000269|PubMed:18587495, ECO:0000269|PubMed:22284829}.
InductionBy hypoxia in retinal pericytes. {ECO:0000269|PubMed:18587495}.
Sequence CautionSequence=AAH02909.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAU25841.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAF85795.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityContains 3 VWFC domains. {ECO:0000255|PROSITE- ProRule:PRU00220}.
Subcellular LocationSecreted {ECO:0000305}.
Tissue SpecificityExpressed 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:0000269|PubMed:18587495, ECO:0000269|PubMed:22284829}.
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