InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRB1

Summary

InnateDB Protein

IDBP-602121.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRB1

Protein Name

crumbs homolog 1 (Drosophila)

Synonyms

LCA8; RP12;

Species

Homo sapiens

Ensembl Protein

ENSP00000433932

InnateDB Gene

IDBG-105559 (CRB1)

Protein Structure

UniProt Annotation

Function

Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion.

Subcellular Localization

Isoform 1: Apical cell membrane; Single-pass type I membrane protein. Note=Distributed at the apical membrane of all retinal epithelial cells. Located in the apical membrane of the adherens junction in outer limiting membrane (OLM) of the retina.Isoform 2: Secreted.

Disease Associations

Note=CRB1 mutations have been found in various retinal dystrophies, chronic and disabling disorders of visual function. They predominantly involve the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. Onset of inherited retinal dystrophies is painless, bilateral and typically progressive. Most people experience gradual peripheral vision loss or tunnel vision, and difficulties with poor illumination and night vision. Central vision is usually unaffected, so the person may still be able to read. However, it can also deteriorate to cause total blindness. Examples of retinal dystrophies are retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy among others.Retinitis pigmentosa 12 (RP12) [MIM:600105]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. {ECO:0000269PubMed:10508521, ECO:0000269PubMed:11389483, ECO:0000269PubMed:11559858, ECO:0000269PubMed:12573663, ECO:0000269PubMed:12843338, ECO:0000269PubMed:15459956, ECO:0000269PubMed:19140180, ECO:0000269PubMed:19956407, ECO:0000269PubMed:20591486, ECO:0000269PubMed:20956273, ECO:0000269PubMed:21987686, ECO:0000269PubMed:22065545, ECO:0000269PubMed:22128245, ECO:0000269PubMed:22334370}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leber congenital amaurosis 8 (LCA8) [MIM:613835]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:11231775, ECO:0000269PubMed:11389483, ECO:0000269PubMed:12567265, ECO:0000269PubMed:12573663, ECO:0000269PubMed:12700176, ECO:0000269PubMed:15024725, ECO:0000269PubMed:15691574, ECO:0000269PubMed:16205573, ECO:0000269PubMed:16936081, ECO:0000269PubMed:17128490, ECO:0000269PubMed:17438615, ECO:0000269PubMed:17724218, ECO:0000269PubMed:18055821, ECO:0000269PubMed:18682808, ECO:0000269PubMed:20108431, ECO:0000269PubMed:20956273, ECO:0000269PubMed:21602930}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]: Unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein. {ECO:0000269PubMed:15623792}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye. {ECO:0000269PubMed:15914641}.

Comments

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:0007163	establishment or maintenance of cell polarity
GO:0007267	cell-cell signaling

Cellular Component

GO:0005576	extracellular region
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001791 Laminin G domain
IPR001881 EGF-like calcium-binding domain
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR013111 EGF-like domain, extracellular

PFAM

PF00008
PF00054
PF02210
PF07645
PF07974

PRINTS

PIRSF

SMART

SM00181
SM00210
SM00282
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P82279