CRB1

CRB1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4UU5
Identifiers
Aliases	CRB1, LCA8, RP12, crumbs 1, cell polarity complex component, crumbs cell polarity complex component 1, CRB1-B, CRB1-C, CRB1-A
External IDs	OMIM: 604210; MGI: 2136343; HomoloGene: 8092; GeneCards: CRB1; OMA:CRB1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	197,478,455 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	139,377,100 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; ventricular zone; ; endothelial cell; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; Amygdala; ; caudate nucleus; ; anterior cingulate cortex; ; right frontal lobe; ; nucleus accumbens;
	Top expressed in
	neural layer of retina; ; retinal pigment epithelium; ; epithelium of lens; ; photoreceptor layer of retina; ; zygote; ; secondary oocyte; ; pineal gland; ; substantia nigra; ; lumbar subsegment of spinal cord; ; primary oocyte;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein binding;
Cellular component	integral component of membrane; extracellular region; microvillus; plasma membrane; apical plasma membrane; membrane; photoreceptor inner segment; protein-containing complex;
Biological process	establishment or maintenance of cell polarity; cell-cell signaling; membrane organization; plasma membrane organization; eye photoreceptor cell development; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; establishment or maintenance of epithelial cell apical/basal polarity;
	Sources:Amigo / QuickGO
Orthologs
	23418
	170788
	ENSG00000134376
	ENSMUSG00000063681
	P82279
	Q8VHS2
	NM_001193640; NM_001257965; NM_001257966; NM_012076; NM_201253
	NM_133239
	NP_001180569; NP_001244894; NP_001244895; NP_957705
	NP_573502
	Wikidata
View/Edit Human	View/Edit Mouse

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila, crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined. One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.