Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Crb1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Crb1
  • is located in the following cellular components:
    • microvillus ^[3]
    • plasma membrane ^[3]
• The gene product of Crb1 has been shown to bind to the gene products of Mpdz. ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Crb1
  • participates in the following biological processes:
    • cellular membrane organization ^[1]
    • eye photoreceptor cell development ^{[1, 4]}
    • plasma membrane organization ^[2]

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Summary text based on GO annotations supported by structural data

• Crb1 encodes a protein or proteins that contain the following InterPro domains: Concanavalin A-like lectin/glucanase, subgroup, Concanavalin A-like lectin/glucanases superfamily, EGF-like calcium-binding, EGF-like calcium-binding, conserved site, EGF-like, conserved site, EGF-type aspartate/asparagine hydroxylation site, Epidermal growth factor-like domain, Laminin G domain, indicating that the gene product:
  • performs the following molecular functions:
    • calcium ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Crb1 indicates that it:
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Mehalow AK et al. (2003) CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet, 12:2179-89. (PubMed:12915475)
2. Van De Pavert SA et al. (2004) Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. J Cell Sci, 117:4169-77. (PubMed:15316081)
3. van Rossum AG et al. (2006) Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells. Hum Mol Genet, 15:2659-72. (PubMed:16885194)
4. Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol, 2011:391384. (PubMed:21052544)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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