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crumbs homolog 1 (CRB1)
Function:
1) photoreceptor morphogenesis in retina
2) cell polarization & adhesion
3) forms a complexes with
a) MPDZ
b) MPP4 & MPP5 apical membrane of all retinal epithelial cells adherens junction in outer limiting membrane retina isoform 1: apical cell membrane isoform 2: secreted
Alternative splicing: named isoforms=4; Preferential expression in retina Also expressed in brain, testis, fetal brain, fetal eye. Extensively glycosylated
Pathology:
1) defects in CRB1 are the cause of retinitis pigmentosa 12
2) defects in CRB1 are a cause of Leber congenital amaurosis
3) defects in CRB1 are the cause of pigmented paravenous chorioretinal atrophy
Related
Leber congenital amaurosis
pigmented paravenous chorioretinal atrophy (PPCRA)
retinitis pigmentosa type 12 (RP12)
General
glycoprotein
membrane protein
secreted protein
Properties
SIZE: MW = 154 kD
entity length = 1406 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-25}
EGF domain {30-68} (19)
MOTIF: N-glycosylation site {N30}
cysteine residue {C34}
MODIFICATION: cysteine residue {C45}
cysteine residue {C39}
MODIFICATION: cysteine residue {C54}
N-glycosylation site {N41}
N-glycosylation site {N42}
cysteine residue {C45}
MODIFICATION: cysteine residue {C34}
cysteine residue {C54}
MODIFICATION: cysteine residue {C39}
cysteine residue {C56}
MODIFICATION: cysteine residue {C67}
cysteine residue {C67}
MODIFICATION: cysteine residue {C56}
transmembrane domain {1348-1368}
Database Correlations
OMIM correlations
MORBIDMAP 604210
UniProt P82279
PFAM correlations
References
UniProt :accession P82279