Sequence in raw or FASTA format:
CRB1 crumbs family member 1, photoreceptor morphogenesis associated [Homo sapiens (human)]
|Entrez Gene ID||23418|
|Full Name||crumbs family member 1, photoreceptor morphogenesis associated|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Retinitis pigmentosa-12, autosomal recessive, 600105 (3);
|hsa04390||Hippo signaling pathway|
|Homo sapiens (human)||CRB1||NP_957705.1|
|Pan troglodytes (chimpanzee)||CRB1||XP_525009.2|
|Macaca mulatta (Rhesus monkey)||CRB1||XP_001110912.1|
|Canis lupus familiaris (dog)||CRB1||XP_005622350.1|
|Bos taurus (cattle)||CRB1||NP_001179411.1|
|Mus musculus (house mouse)||Crb1||NP_573502.2|
|Rattus norvegicus (Norway rat)||Crb1||NP_001100652.1|
|Gallus gallus (chicken)||CRB1||XP_003641718.2|
|Danio rerio (zebrafish)||crb1||NP_001038408.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||crb1||XP_002932223.2|
|GO:0007009||plasma membrane organization||IEA|
|GO:0007163||establishment or maintenance of cell polarity||TAS|
|GO:0042462||eye photoreceptor cell development||IEA|
|GO:0016021||integral component of membrane||IEA|
|GO:0016324||apical plasma membrane||IEA|
|GO:0005509||calcium ion binding||IEA|
|UniProt||B7Z826, F5H0L2, P82279, A8K118|
What is the normal function of the CRB1 gene?
The CRB1 gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the brain and the retina, which is the specialized tissue at the back of the eye that detects light and color.
In the retina, the CRB1 protein appears to be critical for the normal development of light-sensing cells called photoreceptors. Studies suggest that this protein is part of a group (complex) of proteins that help determine the structure and orientation of photoreceptors. The CRB1 protein may also be involved in forming connections between different types of cells in the retina.
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