Entity Details

Primary name CRB1
Entity type gene
Source Source Link

Details

PrimaryID23418
RefseqGeneNG_008483
SymbolCRB1
Namecrumbs cell polarity complex component 1
Chromosome1
Location1q31.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCRUM1_HUMAN

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0001974 blood vessel remodeling
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0005912 adherens junction
GO:0007009 plasma membrane organization
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007163 establishment or maintenance of cell polarity
GO:0007267 cell-cell signaling
GO:0010001 glial cell differentiation
GO:0010467 gene expression
GO:0010842 retina layer formation
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0032991 protein-containing complex
GO:0034613 cellular protein localization
GO:0035845 photoreceptor cell outer segment organization
GO:0042462 eye photoreceptor cell development
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity
GO:0045494 photoreceptor cell maintenance
GO:0050908 detection of light stimulus involved in visual perception
GO:0060060 post-embryonic retina morphogenesis in camera-type eye
GO:0061159 establishment of bipolar cell polarity involved in cell morphogenesis
GO:0071482 cellular response to light stimulus

Diseases

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Disease IDSourceNameDescription
613835 OMIMLeber congenital amaurosis 8 (LCA8)A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry.
600105 OMIMRetinitis pigmentosa 12 (RP12)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. The disease is caused by variants affecting the gene represented in this entry.
172870 OMIMPigmented paravenous chorioretinal atrophy (PPCRA)Unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein. The disease is caused by variants affecting the gene represented in this entry.
268000 OMIMRetinitis pigmentosa (RP)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Interactions

12 interactions