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CRUMBS, DROSOPHILA, HOMOLOG OF, 1 OKDB#: 1585
 Symbols: CRB1 Species: human
 Synonyms: LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1, INCLUDED  Locus: 1q31-q32.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Upstream of Hippo signaling. The polarized architecture of epithelial cells depends on the highly stereotypic distribution of cellular junctions and other membrane-associated protein complexes. In epithelial cells of the Drosophila embryo, 3 distinct domains subdivide the lateral plasma membrane. The most apical one comprises the subapical complex. It is followed by the zonula adherens, and, further basally, by the septate junction. A core component of the subapical complex is the transmembrane protein crumbs, the cytoplasmic domain of which recruits the PDZ protein 'Discs Lost' into the complex. Cells lacking crumbs or the functionally related gene 'stardust' fail to organize a continuous zonular adherens and to maintain cell polarity.

NCBI Summary: Mutations in this gene have been associated with a severe form of retinitis pigmentosa, RP12. The function of its protein product is unknown. Homology to the Drosophila gene crumbs suggests that the protein may be involved in neuronal development of the retina through cell-cell interactions.
General function Cell adhesion molecule, Cytoskeleton organization
Comment Human CRUMBS protein is a predicted paracrine factor, establishing and maintaining cellular polarities. Crb1 expression in the ovary is restricted to the oocytes in both preantral and antral follicles. Drosophila crumbs protein is an important factor in establishing and maintaining cellular polarity through interactions with the cytoskeleton . Human CRB1 is highly conserved relative to Drosophila crb yet has splice variants that lead to fundamentally different molecules. One transcript splice variant encoded by CRB1 is reduced in the transmembrane domain, and the protein is probably secreted. The other splice variant includes the cytoplasmic domain and the transmembrane region and is functionally identical to Drosophila crumbs. A possible role for Crb1 in the mouse ovary is the organization of the granulosa cells in the developing follicle Taft RA, et al 2002 . Granulosa cells can be seen as analogous to the follicular epithelium in the Drosophila ovary but lack the highly defined apical/basal polarity. However, the granulosa cells do have distinct morphologies that are developmentally regulated and may be under the control of the oocyte. CRUMBS protein is a likely candidate for an element of the oocyte-granulosa cell regulatory loop.
Cellular localization Secreted, Plasma membrane
Comment
Ovarian function Follicle development
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Taft RA, et al 2002 reported the identification of genes encoding mouse oocyte secretory and transmembrane proteins by a signal sequence trap. At all stages of follicular development, oocytes interact with surrounding granulosa cells and promote their differentiation into the types of cells that support further oocyte growth and developmental competence. These interactions suggest the existence of an oocyte-granulosa cell regulatory loop that includes both secreted proteins and cell surface receptors on both cell types. Factors involved in the regulatory loop will therefore contain a signal sequence, which can be used to identify them through a signal sequence trap (SST). A screen of an oocyte SST library identified three classes of oocyte-expressed sequences: known mouse genes, sequences homologous to known mammalian genes, and novel sequences of unknown function. Many of the recovered genes may have roles in the oocyte-granulosa cell regulatory loop. For several of the known mouse genes (e.g. Crumbs1), new roles in follicular development are implied by identification of their expression, for the first time, in the oocyte.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
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created: Aug. 26, 2002, 2:35 p.m. by: hsueh   email:
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last update: Nov. 8, 2011, 3:25 p.m. by: hsueh    email:



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