Contents

CRB1

Protein-coding gene in the species Homo sapiens

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)[1] Band 1q31.3 Start 197,268,204 bp[1] End 197,478,455 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 E4|1 60.87 cM Start 139,197,056 bp[2] End 139,377,100 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 23418 170788 Ensembl ENSG00000134376 ENSMUSG00000063681 UniProt P82279 Q8VHS2 RefSeq (mRNA) NM_001193640 NM_001257965 NM_001257966 NM_012076 NM_201253 NM_133239 RefSeq (protein) NP_001180569 NP_001244894 NP_001244895 NP_957705 NP_573502 Location (UCSC) Chr 1: 197.27 – 197.48 Mb Chr 1: 139.2 – 139.38 Mb PubMed search [3] [4]
Wikidata
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Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.^[5][6][7]

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.^[7] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.^[8]

• GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview
• Human CRB1 genome location and CRB1 gene details page in the UCSC Genome Browser.