CRB1

Last updated

CRB1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CRB1 , LCA8, RP12, crumbs 1, cell polarity complex component, crumbs cell polarity complex component 1, CRB1-B, CRB1-C, CRB1-A
External IDs OMIM: 604210; MGI: 2136343; HomoloGene: 8092; GeneCards: CRB1; OMA:CRB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001193640
NM_001257965
NM_001257966
NM_012076
NM_201253

Contents

NM_133239

RefSeq (protein)

NP_001180569
NP_001244894
NP_001244895
NP_957705

NP_573502

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

Related Research Articles

<span class="mw-page-title-main">Retinitis pigmentosa</span> Gradual retinal degeneration leading to progressive sight loss

Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.

Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.

<span class="mw-page-title-main">Peripherin 2</span> Protein-coding gene in the species Homo sapiens

Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.

Ca<sub>v</sub>1.4 Protein-coding gene in humans

Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.

<span class="mw-page-title-main">PRPF31</span> Protein-coding gene in the species Homo sapiens

PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.

<i>CRX</i> (gene) Protein-coding gene in the species Homo sapiens

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.

<span class="mw-page-title-main">RP2 (gene)</span> Protein-coding gene in humans

Protein XRP2 is a protein that in humans is encoded by the RP2 gene.

<span class="mw-page-title-main">CEP290</span> Protein-coding gene in the species Homo sapiens

Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.

<span class="mw-page-title-main">AIPL1</span> Protein-coding gene in the species Homo sapiens

Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.

<span class="mw-page-title-main">RPGRIP1</span> Protein-coding gene in the species Homo sapiens

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.

<span class="mw-page-title-main">TULP1</span> Protein-coding gene in the species Homo sapiens

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.

<span class="mw-page-title-main">ROM1</span> Protein-coding gene in the species Homo sapiens

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.

<span class="mw-page-title-main">RP1</span> Protein-coding gene in humans

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.

<span class="mw-page-title-main">RDH12</span> Protein-coding gene in humans

Retinol dehydrogenase 12 is an enzyme that in humans is encoded by the RDH12 gene.

<span class="mw-page-title-main">FSCN2</span> Protein-coding gene in the species Homo sapiens

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.

<span class="mw-page-title-main">NPHP4</span> Protein-coding gene in the species Homo sapiens

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.

<span class="mw-page-title-main">IMPDH1</span> Protein-coding gene in the species Homo sapiens

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.

<span class="mw-page-title-main">LCA5</span> Protein-coding gene in the species Homo sapiens

Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene. This protein is thought to be involved in centrosomal or ciliary functions.

Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness.

Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina (macula), the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality. "Occult" refers to the degradation in the fundus being difficult to discern. The disorder is called "dystrophy" instead of "degradation" to distinguish its genetic origin from other causes, such as age. OMD was first reported by Y. Miyake et al. in 1989.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134376 Ensembl, May 2017
  2. 1 2 3 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, et al. (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, et al. (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. S2CID   11578020.
  7. 1 2 "Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)".
  8. McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee R, et al. (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.

Further reading