CRB1

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CRB1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCRB1, LCA8, RP12, crumbs 1, cell polarity complex component, crumbs cell polarity complex component 1
External IDsOMIM: 604210 MGI: 2136343 HomoloGene: 8092 GeneCards: CRB1
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CRB1
Genomic location for CRB1
Band1q31.3Start197,268,204 bp[1]
End197,478,455 bp[1]
RNA expression pattern
PBB GE CRB1 220522 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001193640
NM_001257965
NM_001257966
NM_012076
NM_201253

NM_133239

RefSeq (protein)

NP_001180569
NP_001244894
NP_001244895
NP_957705

NP_573502

Location (UCSC)Chr 1: 197.27 – 197.48 MbChr 1: 139.2 – 139.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.[5][6][7]

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. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined.[7] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134376 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063681 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP (Jul 1999). "Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization". Genomics. 58 (3): 240–9. doi:10.1006/geno.1999.5823. PMID 10373321.
  6. ^ den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA (Oct 1999). "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)". Nat Genet. 23 (2): 217–21. doi:10.1038/13848. PMID 10508521.
  7. ^ a b "Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)".
  8. ^ McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee R, Malicki J (April 2009). "CRB1Gene Mutations Are Associated with Keratoconus in Patients with Leber Congenital Amaurosis". Invest. Ophthalmol. Vis. Sci. 50 (7): 3185–7. doi:10.1167/iovs.08-2886. PMID 19407021.

External links[edit]

Further reading[edit]