Version 5.4
Homo sapiens Gene: CRB1
Summary
InnateDB Gene IDBG-105559.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CRB1
Gene Name crumbs homolog 1 (Drosophila)
Synonyms LCA8; RP12
Species Homo sapiens
Ensembl Gene ENSG00000134376
Encoded Proteins
IDBP-105563
crumbs homolog 1 (Drosophila)
IDBP-105565
crumbs homolog 1 (Drosophila)
IDBP-105569
crumbs homolog 1 (Drosophila)
IDBP-389836
crumbs homolog 1 (Drosophila)
IDBP-602121
crumbs homolog 1 (Drosophila)
IDBP-585579
crumbs homolog 1 (Drosophila)
IDBP-591984
crumbs homolog 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:197268204-197478455
Strand Forward strand
Band q31.3
Transcripts
ENST00000367400 ENSP00000356370
ENST00000367399 ENSP00000356369
ENST00000367397 ENSP00000356367
ENST00000448952 ENSP00000395407
ENST00000475659
ENST00000484075 ENSP00000433932
ENST00000476483
ENST00000480086
ENST00000538660 ENSP00000438091
ENST00000535699 ENSP00000438786
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0007009 plasma membrane organization
GO:0007163 establishment or maintenance of cell polarity
GO:0007267 cell-cell signaling
GO:0042462 eye photoreceptor cell development
GO:0061024 membrane organization
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000063681
View Gene Order
ENSBTAG00000008944
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 23418
UniGene Hs.126135 Hs.597134 Hs.715791 Hs.716283
RefSeq XM_006711250 NM_001193640 NM_001257965 NM_001257966 NM_201253 XM_006711249
HUGO HGNC:2343
OMIM 604210
CCDS CCDS1390 CCDS53454 CCDS58052 CCDS58053
HPRD 05019
IMGT
EMBL
GenPept
RNA Seq Atlas 23418

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca