|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| # | Reference Title | Reference Citation |
| 1. | Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). | den Hollander AI, etal., Nat Genet. 1999 Oct;23(2):217-21. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 4. | Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. | Henderson RH, etal., Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17. |
| 5. | Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. | Khan AO, etal., Ophthalmic Genet. 2014 Sep;35(3):130-7. doi: 10.3109/13816810.2013.804097. Epub 2013 Jun 14. |
| 6. | Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair. | Low BE, etal., Invest Ophthalmol Vis Sci. 2014 Jan 20;55(1):387-95. doi: 10.1167/iovs.13-13278. |
| 7. | Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. | McKay GJ, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):322-8. |
| 8. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 9. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 10. | Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis. | Pellissier LP, etal., PLoS Genet. 2013 Dec;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5. |
| 11. | Evaluating Potential Therapies in a Mouse Model of Focal Retinal Degeneration with Age-related Macular Degeneration (AMD)-Like Lesions. | Popp N, etal., J Clin Exp Ophthalmol. 2013 Oct 1;4(5):1000296. |
| 12. | GOA pipeline | RGD automated data pipeline |
| 13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 15. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 16. | A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. | van de Pavert SA, etal., J Neurosci. 2007 Jan 17;27(3):564-73. |
| 17. | Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies. | Yang L, etal., Mol Vis. 2014 Mar 26;20:359-67. eCollection 2014. |
| 18. | A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia. | Zhao M, etal., J Neurosci. 2015 Apr 15;35(15):6093-106. doi: 10.1523/JNEUROSCI.3412-14.2015. |
| PMID:12915475 | PMID:15316081 | PMID:15914641 | PMID:16885194 | PMID:21052544 | PMID:22447858 | PMID:25147295 | PMID:25636444 | PMID:33808129 |
| Crb1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CRB1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Crb1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Crb1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CRB1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CRB1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Crb1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CRB1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CRB1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Crb1 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Crb1 (Rattus rattus - black rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
.
Variants in Crb1
2343 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D13Got230 |
|
|||||||||||||||||||||||||||||||||||
| AB072758 |
|
|||||||||||||||||||||||||||||||||||
| RH133772 |
|
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 13 | 11 | 32 | 141 | 46 | 42 | 17 | 58 | 17 | 6 | 238 | 120 | 8 | 116 | 80 | 87 | 25 | 17 | 17 |
| RefSeq Transcripts | NM_001107182 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_017598798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | CH473958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000032122 ⟹ ENSRNOP00000037018 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000097209 ⟹ ENSRNOP00000078309 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000110674 ⟹ ENSRNOP00000096962 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000114575 ⟹ ENSRNOP00000086071 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001107182 ⟹ NP_001100652 | ||||||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||
| Sequence: |
| Protein RefSeqs | NP_001100652 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | EDM09625 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000037018 | ||
| ENSRNOP00000037018.5 | |||
| ENSRNOP00000078309.2 | |||
| ENSRNOP00000086071.1 | |||
| ENSRNOP00000096962.1 |
| RefSeq Acc Id: | NP_001100652 ⟸ NM_001107182 |
| - Peptide Label: | precursor |
| - UniProtKB: | D3ZZL8 (UniProtKB/TrEMBL), A6ICM2 (UniProtKB/TrEMBL), A0A8I5ZKN7 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000037018 ⟸ ENSRNOT00000032122 |
| Ensembl Acc Id: | ENSRNOP00000078309 ⟸ ENSRNOT00000097209 |
| Ensembl Acc Id: | ENSRNOP00000096962 ⟸ ENSRNOT00000110674 |
| Ensembl Acc Id: | ENSRNOP00000086071 ⟸ ENSRNOT00000114575 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3ZZL8-F1-model_v2 | AlphaFold | D3ZZL8 | 1-1407 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1309947 | AgrOrtholog |
| BioCyc Gene | G2FUF-18077 | BioCyc |
| Ensembl Genes | ENSRNOG00000010903 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000032122 | ENTREZGENE |
| ENSRNOT00000032122.7 | UniProtKB/TrEMBL | |
| ENSRNOT00000097209.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000110674.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000114575.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.120.200 | UniProtKB/TrEMBL |
| Laminin | UniProtKB/TrEMBL | |
| InterPro | ConA-like_subgrp | UniProtKB/TrEMBL |
| EG-like_dom | UniProtKB/TrEMBL | |
| EGF-like_Ca-bd | UniProtKB/TrEMBL | |
| EGF-like_CS | UniProtKB/TrEMBL | |
| EGF-type_Asp/Asn_hydroxyl_site | UniProtKB/TrEMBL | |
| EGF_Ca-bd_CS | UniProtKB/TrEMBL | |
| Growth_fac_rcpt_N_dom | UniProtKB/TrEMBL | |
| Laminin_G | UniProtKB/TrEMBL | |
| KEGG Report | rno:304825 | UniProtKB/TrEMBL |
| NCBI Gene | 304825 | ENTREZGENE |
| PANTHER | CRUMBS 1, CELL POLARITY COMPLEX COMPONENT | UniProtKB/TrEMBL |
| CYTOCHROME C OXIDASE POLYPEPTIDE VIC-2 | UniProtKB/TrEMBL | |
| UNINFLATABLE, ISOFORM C | UniProtKB/TrEMBL | |
| Pfam | EGF | UniProtKB/TrEMBL |
| hEGF | UniProtKB/TrEMBL | |
| Laminin_G_2 | UniProtKB/TrEMBL | |
| PhenoGen | Crb1 | PhenoGen |
| PRINTS | EGFBLOOD | UniProtKB/TrEMBL |
| PROSITE | ASX_HYDROXYL | UniProtKB/TrEMBL |
| EGF_1 | UniProtKB/TrEMBL | |
| EGF_2 | UniProtKB/TrEMBL | |
| EGF_3 | UniProtKB/TrEMBL | |
| EGF_CA | UniProtKB/TrEMBL | |
| LAM_G_DOMAIN | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000010903 | RatGTEx |
| SMART | EGF | UniProtKB/TrEMBL |
| EGF_CA | UniProtKB/TrEMBL | |
| LamG | UniProtKB/TrEMBL | |
| Superfamily-SCOP | ConA_like_lec_gl | UniProtKB/TrEMBL |
| EGF/Laminin | UniProtKB/TrEMBL | |
| SSF57184 | UniProtKB/TrEMBL | |
| UniProt | A0A8I5ZKN7 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I6A4M0_RAT | UniProtKB/TrEMBL | |
| A0A8I6AQJ2_RAT | UniProtKB/TrEMBL | |
| A6ICM2 | ENTREZGENE, UniProtKB/TrEMBL | |
| D3ZZL8 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-03-01 | Crb1 | crumbs 1, cell polarity complex component | Crb1 | crumbs family member 1, photoreceptor morphogenesis associated | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2014-02-13 | Crb1 | crumbs family member 1, photoreceptor morphogenesis associated | Crb1 | crumbs homolog 1 (Drosophila) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-04-30 | Crb1 | crumbs homolog 1 (Drosophila) | Crb1_predicted | crumbs homolog 1 (Drosophila) (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2005-01-12 | Crb1_predicted | crumbs homolog 1 (Drosophila) (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |