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Aliases for CRB1 Gene

Aliases for CRB1 Gene

  • Crumbs Family Member 1, Photoreceptor Morphogenesis Associated 2 3
  • LCA8 3 6
  • RP12 3 6
  • Crumbs (Drosophila) Homolog 1 2
  • Crumbs Homolog 1 (Drosophila) 2
  • Protein Crumbs Homolog 1 3

External Ids for CRB1 Gene

Previous HGNC Symbols for CRB1 Gene

  • RP12

Previous GeneCards Identifiers for CRB1 Gene

  • GC01P194964
  • GC01P192695
  • GC01P193703
  • GC01P194525
  • GC01P193969
  • GC01P195504
  • GC01P197237
  • GC01P168395

Summaries for CRB1 Gene

Entrez Gene Summary for CRB1 Gene

  • 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]

GeneCards Summary for CRB1 Gene

CRB1 (Crumbs Family Member 1, Photoreceptor Morphogenesis Associated) is a Protein Coding gene. Diseases associated with CRB1 include leber congenital amaurosis 8 and pigmented paravenous chorioretinal atrophy. Among its related pathways are Hippo signaling pathway and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NOTCH2.

UniProtKB/Swiss-Prot for CRB1 Gene

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

Gene Wiki entry for CRB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRB1 Gene

Genomics for CRB1 Gene

Regulatory Elements for CRB1 Gene

Genomic Location for CRB1 Gene

197,201,462 bp from pter
197,478,455 bp from pter
276,994 bases
Plus strand

Genomic View for CRB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRB1 Gene

Proteins for CRB1 Gene

  • Protein details for CRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein crumbs homolog 1
    Protein Accession:
    Secondary Accessions:
    • A2A308
    • B7Z5T2
    • B9EG71
    • Q5K3A6
    • Q5TC28
    • Q5VUT1
    • Q6N027
    • Q8WWY0
    • Q8WWY1

    Protein attributes for CRB1 Gene

    1406 amino acids
    Molecular mass:
    154183 Da
    Quaternary structure:
    • Forms a complex with MPDZ (By similarity). Forms a complex with MPP4 and MPP5.
    • Sequence=CAE45845.1; Type=Erroneous termination; Positions=567; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=CAI16644.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CRB1 Gene

    Alternative splice isoforms for CRB1 Gene


neXtProt entry for CRB1 Gene

Proteomics data for CRB1 Gene at MOPED

Post-translational modifications for CRB1 Gene

  • Extensively glycosylated
  • Glycosylation at Asn30, Asn41, Asn42, Asn215, Asn287, Asn313, Asn322, Asn418, Asn427, Asn453, Asn550, Asn561, Asn657, Asn757, Asn871, Asn880, Asn968, Asn975, Asn1000, Asn1190, Asn1243, Asn1265, and Asn1273
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CRB1 Gene

Domains for CRB1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P82279
  • Contains 19 EGF-like domains.
  • Contains 3 laminin G-like domains.
  • Belongs to the Crumbs protein family.
genes like me logo Genes that share domains with CRB1: view

No data available for Gene Families for CRB1 Gene

Function for CRB1 Gene

Molecular function for CRB1 Gene

GENATLAS Biochemistry:
Drosophila crumbs homolog 1,expressed in the neural retina,fetal and adult brain,not expressed in RPE/choroid,potentially involved in the organization or polarity of retinal cells
UniProtKB/Swiss-Prot Function:
Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion

Gene Ontology (GO) - Molecular Function for CRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11927608
genes like me logo Genes that share ontologies with CRB1: view
genes like me logo Genes that share phenotypes with CRB1: view

Animal Models for CRB1 Gene

MGI Knock Outs for CRB1:

Animal Model Products

miRNA for CRB1 Gene

miRTarBase miRNAs that target CRB1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRB1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CRB1 Gene

Localization for CRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRB1 Gene

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.

Subcellular locations from

Jensen Localization Image for CRB1 Gene COMPARTMENTS Subcellular localization image for CRB1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane --
GO:0005902 microvillus IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with CRB1: view

Pathways for CRB1 Gene

genes like me logo Genes that share pathways with CRB1: view

Pathways by source for CRB1 Gene

1 Qiagen pathway for CRB1 Gene
1 KEGG pathway for CRB1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007009 plasma membrane organization IEA --
GO:0007163 establishment or maintenance of cell polarity TAS 10508521
GO:0007267 cell-cell signaling TAS 10508521
GO:0042462 eye photoreceptor cell development IEA --
GO:0061024 membrane organization --
genes like me logo Genes that share ontologies with CRB1: view

Compounds for CRB1 Gene

(1) Novoseek inferred chemical compound relationships for CRB1 Gene

Compound -log(P) Hits PubMed IDs
guanylate 23.3 1
genes like me logo Genes that share compounds with CRB1: view

Transcripts for CRB1 Gene

Unigene Clusters for CRB1 Gene

Crumbs homolog 1 (Drosophila):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRB1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRB1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c
SP1: - - - - - - -
SP2: - - - -
SP3: - - - - - - - - -
SP6: - -
SP7: -
SP8: -

Relevant External Links for CRB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CRB1 Gene

mRNA expression in normal human tissues for CRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRB1 Gene

This gene is overexpressed in Brain - Cerebellum (5.1), Brain - Caudate (basal ganglia) (5.0), Brain - Cerebellar Hemisphere (4.9), Brain - Amygdala (4.7), and Brain - Nucleus accumbens (basal ganglia) (4.4).

Protein differential expression in normal tissues for CRB1 Gene

This gene is overexpressed in Urine (37.3), Serum (18.7), and Plasma (9.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CRB1 Gene

SOURCE GeneReport for Unigene cluster for CRB1 Gene Hs.126135

mRNA Expression by UniProt/SwissProt for CRB1 Gene

Tissue specificity: Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye.
genes like me logo Genes that share expressions with CRB1: view

Expression partners for CRB1 Gene

In Situ Assay Products

Orthologs for CRB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CRB1 35
  • 77.12 (n)
  • 71.76 (a)
CRB1 36
  • 72 (a)
(Canis familiaris)
Mammalia CRB1 35
  • 86.69 (n)
  • 81.99 (a)
CRB1 36
  • 81 (a)
(Mus musculus)
Mammalia Crb1 35
  • 82.33 (n)
  • 76.23 (a)
Crb1 16
Crb1 36
  • 76 (a)
(Pan troglodytes)
Mammalia CRB1 35
  • 99.29 (n)
  • 98.72 (a)
CRB1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Crb1 35
  • 81.14 (n)
  • 74.95 (a)
(Monodelphis domestica)
Mammalia CRB1 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia CRB1 36
  • 67 (a)
(Gallus gallus)
Aves CRB1 35
  • 68.73 (n)
  • 63.4 (a)
CRB1 36
  • 64 (a)
(Anolis carolinensis)
Reptilia CRB1 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia crb1 35
  • 56.91 (n)
  • 48.93 (a)
(Danio rerio)
Actinopterygii crb1 35
  • 52.91 (n)
  • 45.71 (a)
crb1 36
  • 43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15388 37
  • 43 (a)
crb 37
  • 30 (a)
eys 36
  • 14 (a)
(Caenorhabditis elegans)
Secernentea crb-1 37
  • 26 (a)
W02C12.1 37
  • 37 (a)
Y69H2.12 37
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
Species with no ortholog for CRB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRB1 Gene

Gene Tree for CRB1 (if available)
Gene Tree for CRB1 (if available)

Paralogs for CRB1 Gene

Selected SIMAP similar genes for CRB1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CRB1: view

Variants for CRB1 Gene

Sequence variations from dbSNP and Humsavar for CRB1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs473663 -- 197,283,856(+) aacaa(C/T)aaatt intron-variant
rs476390 -- 197,284,137(+) CTCTA(C/T)GACGT intron-variant
rs476505 -- 197,264,119(+) tatcc(C/T)tcctc intron-variant
rs482526 -- 197,299,633(+) aaaaa(A/C)aaact intron-variant
rs482549 -- 197,318,015(-) ctttt(C/T)agttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRB1 Gene

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
esv2669387 CNV Deletion 23128226

Relevant External Links for CRB1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRB1 Gene

Disorders for CRB1 Gene

(3) OMIM Diseases for CRB1 Gene (604210)


  • 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:0000269 PubMed:10508521, ECO:0000269 PubMed:11389483, ECO:0000269 PubMed:11559858, ECO:0000269 PubMed:12573663, ECO:0000269 PubMed:12843338, ECO:0000269 PubMed:15459956, ECO:0000269 PubMed:19140180, ECO:0000269 PubMed:19956407, ECO:0000269 PubMed:20591486, ECO:0000269 PubMed:20956273, ECO:0000269 PubMed:21987686, ECO:0000269 PubMed:22065545, ECO:0000269 PubMed:22128245, ECO:0000269 PubMed: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:0000269 PubMed:11231775, ECO:0000269 PubMed:11389483, ECO:0000269 PubMed:12567265, ECO:0000269 PubMed:12573663, ECO:0000269 PubMed:12700176, ECO:0000269 PubMed:15024725, ECO:0000269 PubMed:15691574, ECO:0000269 PubMed:16205573, ECO:0000269 PubMed:16936081, ECO:0000269 PubMed:17128490, ECO:0000269 PubMed:17438615, ECO:0000269 PubMed:17724218, ECO:0000269 PubMed:18055821, ECO:0000269 PubMed:18682808, ECO:0000269 PubMed:20108431, ECO:0000269 PubMed:20956273, ECO:0000269 PubMed: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:0000269 PubMed:15623792}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for CRB1 Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 98.1 24
retinitis pigmentosa 90.2 28
retinal degeneration 83.1 5
visual impairment 61.4 1
retinopathy 60.9 4

Relevant External Links for CRB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CRB1: view

No data available for Genatlas for CRB1 Gene

Publications for CRB1 Gene

  1. Mutations in the CRB1 gene cause Leber congenital amaurosis. (PMID: 11231775) Lotery A.J. … Stone E.M. (Arch. Ophthalmol. 2001) 3 4 23 48
  2. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID: 17724218) Simonelli F. … Banfi S. (Invest. Ophthalmol. Vis. Sci. 2007) 3 4 23 48
  3. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. (PMID: 11389483) den Hollander A.I. … Cremers F.P.M. (Am. J. Hum. Genet. 2001) 3 4 23
  4. CRB1 mutations may result in retinitis pigmentosa without para- arteriolar RPE preservation. (PMID: 11559858) Lotery A.J. … Stone E.M. (Ophthalmic Genet. 2001) 3 4 23
  5. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. (PMID: 11734541) den Hollander A.I. … Cremers F.P.M. (Hum. Mol. Genet. 2001) 3 4 23

Products for CRB1 Gene

Sources for CRB1 Gene

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