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CRB1 (crumbs family member 1, photoreceptor morphogenesis associated)

Identity

Other namesLCA8
RP12
HGNC (Hugo) CRB1
LocusID (NCBI) 23418
Location 1q31.3
Location_base_pair Starts at 197237334 and ends at 197447585 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)CRB1   2343
Cards
Entrez_Gene (NCBI)CRB1  23418  crumbs family member 1, photoreceptor morphogenesis associated
GeneCards (Weizmann)CRB1
Ensembl (Hinxton)ENSG00000134376 [Gene_View]  chr1:197237334-197447585 [Contig_View]  CRB1 [Vega]
ICGC DataPortalENSG00000134376
cBioPortalCRB1
AceView (NCBI)CRB1
Genatlas (Paris)CRB1
WikiGenes23418
SOURCE (Princeton)NM_001193640 NM_001257965 NM_001257966 NM_012076 NM_201253
Genomic and cartography
GoldenPath (UCSC)CRB1  -  1q31.3   chr1:197237334-197447585 +  1q31.3   [Description]    (hg19-Feb_2009)
EnsemblCRB1 - 1q31.3 [CytoView]
Mapping of homologs : NCBICRB1 [Mapview]
OMIM172870   600105   604210   613835   
Gene and transcription
Genbank (Entrez)AB208923 AF154671 AJ748821 AK289733 AK299367
RefSeq transcript (Entrez)NM_001193640 NM_001257965 NM_001257966 NM_012076 NM_201253
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008483 NT_004487 NW_001838533 NW_004929293
Consensus coding sequences : CCDS (NCBI)CRB1
Cluster EST : UnigeneHs.126135 [ NCBI ]
CGAP (NCI)Hs.126135
Alternative Splicing : Fast-db (Paris)GSHG0001305
Alternative Splicing GalleryENSG00000134376
Gene ExpressionCRB1 [ NCBI-GEO ]     CRB1 [ SEEK ]   CRB1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP82279 (Uniprot)
NextProtP82279  [Medical]
With graphics : InterProP82279
Splice isoforms : SwissVarP82279 (Swissvar)
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    LAM_G_DOMAIN (PS50025)   
Domains : Interpro (EBI)ConA-like_lec_gl_sf [organisation]   ConA-like_subgrp [organisation]   EG-like_dom [organisation]   EGF-like_Ca-bd_dom [organisation]   EGF-like_CS [organisation]   EGF-type_Asp/Asn_hydroxyl_site [organisation]   EGF_Ca-bd_CS [organisation]   Growth_fac_rcpt_N_dom [organisation]   Laminin_G [organisation]  
Related proteins : CluSTrP82279
Domain families : Pfam (Sanger)EGF (PF00008)    hEGF (PF12661)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam00008    pfam12661    pfam02210   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  LamG (SM00282)  
DMDM Disease mutations23418
Blocks (Seattle)P82279
Human Protein AtlasENSG00000134376 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP82279
HPRD05019
IPIIPI00397504   IPI00015785   IPI00607552   IPI00607891   IPI00922394   IPI00883900   IPI00942642   IPI01009270   IPI01025325   IPI00556358   
Protein Interaction databases
DIP (DOE-UCLA)P82279
IntAct (EBI)P82279
FunCoupENSG00000134376
BioGRIDCRB1
InParanoidP82279
Interologous Interaction database P82279
IntegromeDBCRB1
STRING (EMBL)CRB1
Ontologies - Pathways
Ontology : AmiGOcalcium ion binding  protein binding  extracellular region  microvillus  plasma membrane organization  establishment or maintenance of cell polarity  cell-cell signaling  integral component of membrane  apical plasma membrane  eye photoreceptor cell development  
Ontology : EGO-EBIcalcium ion binding  protein binding  extracellular region  microvillus  plasma membrane organization  establishment or maintenance of cell polarity  cell-cell signaling  integral component of membrane  apical plasma membrane  eye photoreceptor cell development  
Pathways : KEGGHippo signaling pathway   
Protein Interaction DatabaseCRB1
Wikipedia pathwaysCRB1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CRB1
snp3D : Map Gene to Disease23418
SNP (GeneSNP Utah)CRB1
SNP : HGBaseCRB1
Genetic variants : HAPMAPCRB1
Exome VariantCRB1
1000_GenomesCRB1 
ICGC programENSG00000134376 
Somatic Mutations in Cancer : COSMICCRB1 
CONAN: Copy Number AnalysisCRB1 
Mutations and Diseases : HGMDCRB1
Mutations and Diseases : intOGenCRB1
Genomic VariantsCRB1  CRB1 [DGVbeta]
dbVarCRB1
ClinVarCRB1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM172870    600105    604210    613835   
MedgenCRB1
GENETestsCRB1
Disease Genetic AssociationCRB1
Huge Navigator CRB1 [HugePedia]  CRB1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCRB1
Homology/Alignments : Family Browser (UCSC)CRB1
Phylogenetic Trees/Animal Genes : TreeFamCRB1
Chemical/Protein Interactions : CTD23418
Chemical/Pharm GKB GenePA26863
Clinical trialCRB1
Cancer Resource (Charite)ENSG00000134376
Other databases
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
CoreMineCRB1
iHOPCRB1
OncoSearchCRB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:45:57 CEST 2014

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