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Protein Page:
CRB1 (human)

Overview
CRB1 Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion. CRB1 mutations have been found in various retinal dystrophies, chronic and disabling disorders of visual function. They predominantly involve the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. Onset of inherited retinal dystrophies is painless, bilateral and typically progressive. Most people experience gradual peripheral vision loss or tunnel vision, and difficulties with poor illumination and night vision. Central vision is usually unaffected, so the person may still be able to read. However, it can also deteriorate to cause total blindness. Examples of retinal dystrophies are retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy among others. Defects in CRB1 are the cause of retinitis pigmentosa type 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. Defects in CRB1 are the cause of Leber congenital amaurosis type 8 (LCA8). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in CRB1 are the cause of pigmented paravenous chorioretinal atrophy (PPCRA). PPCRA is an 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. Belongs to the Crumbs protein family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Cell development/differentiation; Motility/polarity/chemotaxis
Cellular Component: microvillus; apical plasma membrane; integral to membrane; extracellular region
Molecular Function: protein binding; calcium ion binding
Biological Process: eye photoreceptor cell development; plasma membrane organization and biogenesis; cell-cell signaling; establishment and/or maintenance of cell polarity
Reference #:  P82279 (UniProtKB)
Alt. Names/Synonyms: CRB1; CRUM1; Crumbs homolog 1; crumbs homolog 1 (Drosophila); LCA8; RP12
Gene Symbols: CRB1
Molecular weight: 154,183 Da
Basal Isoelectric point: 4.84  Predict pI for various phosphorylation states
Select Structure to View Below

CRB1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 Y711 GPNCLREYVAGRFGQ
0 2 S721-p GRFGQDDstGYVIFT
0 2 T722-p RFGQDDstGYVIFTL
0 1 Y760 LALENSTYQYIRVWL
0 1 T776 RGRLAMLTPNSPKLV
0 1 T1378-p NKRATQGtYSPSRQE
  mouse

 
Y710 GSNCLKEYVAGRFGQ
S720 GRFGQDDSTGYAAFS
T721 RFGQDDSTGYAAFSV
Y759-p LALENSTyQYVSVWL
T775-p HGSLALQtPGSPKFM
T1377 NKRATQGTYSPSGQE
  rat

 
Y712-p GSNCLKEyVAGRFGQ
S722 GRFGQDDSTGYAAFK
T723 RFGQDDSTGYAAFKV
Y761 LTLGNSTYQYVCVWL
T777 HGSLALKTPGSPKLV
T1379 NKRATQGTYSPSGQE
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