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CRB1 Gene

protein-coding   GIFtS: 65
GCID: GC01P197170

Crumbs Family Member 1, Photoreceptor Morphogenesis Associated

(Previous names: crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila))
(Previous symbol: RP12)
  See CRB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Crumbs Family Member 1, Photoreceptor Morphogenesis Associated1 2
RP121 2 5
LCA82 5
Crumbs (Drosophila) Homolog 11
Crumbs Homolog 1 (Drosophila)1
Protein Crumbs Homolog 12

External Ids:    HGNC: 23431   Entrez Gene: 234182   Ensembl: ENSG000001343767   OMIM: 6042105   UniProtKB: P822793   
ORGUL members:         

Export aliases for CRB1 gene to outside databases

Previous GC identifers: GC01P194964 GC01P192695 GC01P193703 GC01P194525 GC01P193969 GC01P195504 GC01P197237 GC01P168395


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pigmented paravenous chorioretinal atrophy, and retinitis pigmentosa 12. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DLK2.

UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279
Function: Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion

Gene Wiki entry for CRB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRB1 gene promoter:
         Max1   RP58   MyoD   RORalpha1   POU2F1   POU2F1a   c-Myc   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRB1 promoter sequence
   Search Chromatin IP Primers for CRB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q31-q32.1   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q31-q32.1

CRB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRB1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P197170:  view genomic region     (about GC identifiers)

Start:
197,170,592 bp from pter      End:
197,447,585 bp from pter
Size:
276,994 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279 (See protein sequence)
Recommended Name: Protein crumbs homolog 1 precursor  
Size: 1406 amino acids; 154183 Da
Subunit: Forms a complex with MPDZ (By similarity). Forms a complex with MPP4 and MPP5
Sequence caution: Sequence=CAE45845.1; Type=Erroneous termination; Positions=567; Note=Translated as Trp;
Sequence=CAI16644.1; Type=Erroneous gene model prediction;
Secondary accessions: A2A308 B7Z5T2 B9EG71 Q5K3A6 Q5TC28 Q5VUT1 Q6N027 Q8WWY0 Q8WWY1
Alternative splicing: 5 isoforms:  P82279-1   P82279-2   P82279-3   P82279-4   P82279-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CRB1: NX_P82279

Explore proteomics data for CRB1 at MOPED

Post-translational modifications: 

  • Extensively glycosylated1
  • Glycosylation2 at Asn30, Asn41, Asn42, Asn215, Asn287, Asn313, Asn322, Asn418, Asn427, Asn453,
                                 Asn550, Asn561, Asn657, Asn757, Asn871, Asn880, Asn968, Asn975, Asn1000, Asn1190 (see all 23)
  • Modification sites at PhosphoSitePlus

  • See CRB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001180569.1  NP_001244894.1  NP_001244895.1  NP_957705.1  

    ENSEMBL proteins: 
     ENSP00000433932   ENSP00000356370   ENSP00000356369   ENSP00000356367   ENSP00000395407  
     ENSP00000438091   ENSP00000438786   ENSP00000439579   ENSP00000444556  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P82279

    ProtoNet protein and cluster: P82279

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001791 Laminin G
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279
    Similarity: Belongs to the Crumbs protein family
    Similarity: Contains 19 EGF-like domains
    Similarity: Contains 3 laminin G-like domains


    Find genes that share domains with CRB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRUM1_HUMAN, P82279
    Function: Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion

         Genatlas biochemistry entry for CRB1:
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11927608
         
    Find genes that share ontologies with CRB1           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Crb1):
     homeostasis/metabolism  mortality/aging  nervous system  pigmentation  vision/eye 

    Find genes that share phenotypes with CRB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Crb1tm1Wij for CRB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRB1
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    hsa-mir-124-3p (MIRT022890)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CRUM1_HUMAN, P82279: 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
    CRUM1_HUMAN, P82279: Isoform 2: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane ----
    GO:0005902microvillus IEA--
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IEA--

    Find genes that share ontologies with CRB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CRB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    2Hippo signaling pathway
    Hippo signaling pathway


    Find genes that share SuperPaths with CRB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CRB1
        Epithelial Tight Junctions


    1 Kegg Pathway  (Kegg details for CRB1):
        Hippo signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including CRB1: 
              Tight Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CRB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CRB1 (P822791, 2, 3 ENSP000003563704) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INADLQ8NI351, 2, 3, ENSP000003602004EBI-1048648,EBI-724390 MINT-1774293 MINT-1774377 I2D: score=1 STRING: ENSP00000360200
    MPP5Q8N3R92, 3, ENSP000002616814MINT-1774397 I2D: score=1 STRING: ENSP00000261681
    PSMD13Q9UNM63, ENSP000003969374I2D: score=2 STRING: ENSP00000396937
    PRKAR1AP106443, ENSP000003514104I2D: score=1 STRING: ENSP00000351410
    DDX56Q9NY933, ENSP000002587724I2D: score=1 STRING: ENSP00000258772
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007009plasma membrane organization IEA--
    GO:0007163establishment or maintenance of cell polarity TAS10508521
    GO:0007267cell-cell signaling TAS10508521
    GO:0042462eye photoreceptor cell development IEA--

    Find genes that share ontologies with CRB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRB1 (CRUM1)

    1 Novoseek inferred chemical compound relationship for CRB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 23.3 1 15914641 (1)



    Find genes that share compounds with CRB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CRB1 gene (5 alternative transcripts): 
    NM_001193640.1  NM_001257965.1  NM_001257966.1  NM_201253.2  NM_012076.2  

    Unigene Cluster for CRB1:

    Crumbs homolog 1 (Drosophila)
    Hs.126135  [show with all ESTs]
    Unigene Representative Sequence: NR_047564
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475659(uc001gty.2) ENST00000484075 ENST00000367400(uc010poz.2 uc001gtz.3 uc009wza.3 uc010ppa.2 uc010ppb.2 uc010ppd.2)
    ENST00000367399 ENST00000476483 ENST00000367397(uc001gub.1) ENST00000480086
    ENST00000448952 ENST00000538660 ENST00000535699(uc010ppc.1) ENST00000543483
    ENST00000544212
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    Additional mRNA sequence: 

    AB208923.1 AF154671.1 AJ748821.1 AK289733.1 AK299367.1 AK299368.1 AK302818.1 AK302826.1 
    AK307844.1 AY043322.1 AY043323.1 AY043324.1 AY043325.1 BC136271.1 BC143726.1 NR_047563.1 
    NR_047564.1 

    11 DOTS entries:

    DT.411402  DT.100745044  DT.121421249  DT.411401  DT.121421251  DT.121421243  DT.121421269  DT.40259689 
    DT.411404  DT.403776  DT.97798112 

    Selected AceView cDNA sequences (see all 51):

    BM698287 BM666994 AY043325 BQ943691 BG911602 AF154671 NM_201253 NM_012076 
    AA758829 AL713453 BU741609 BX115314 AY043324 BX955547 AL539660 CB155885 
    BV206617 AI026624 BM698143 AI805296 BX640729 BG912191 BX953983 AA909366 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CRB1 (see all 8)    About this scheme

    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:                    -     -           -     -     -                                         -           -     -     -               
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for CRB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CRB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCAGAGA
    CRB1 Expression
    About this image


    CRB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Gonad
             Primary Oocyte Primordial Follicle
    CRB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.126135

    UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279
    Tissue specificity: Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye

        Pathway & Disease-focused RT2 Profiler PCR Array including CRB1: 
              Tight Junctions in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CRB1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crb11 , 5 crumbs homolog 1 (Drosophila)1, 5 82.33(n)1
    76.23(a)1
      1 (60.87 cM)5
    1707881  NM_133239.21  NP_573502.21 
     1391970565 
    chicken
    (Gallus gallus)
    Aves CRB11 crumbs homolog 1 (Drosophila) 68.73(n)
    63.4(a)
      424352  XM_003641670.2  XP_003641718.2 
    lizard
    (Anolis carolinensis)
    Reptilia CRB16
    crumbs homolog 1 (Drosophila)
    61(a)
    1 ↔ 1
    GL343432.1(391654-482186)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia crb11 crumbs homolog 1 (Drosophila) 56.91(n)
    48.93(a)
      100493588  XM_002932177.2  XP_002932223.2 
    zebrafish
    (Danio rerio)
    Actinopterygii crb11 crumbs homolog 1 (Drosophila) 52.91(n)
    45.71(a)
      560942  NM_001044943.1  NP_001038408.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG153883   -- 43(a)
    (best of 2)
      22E1   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CRB1 gene
    DLK22  SNED12  NOTCH42  NOTCH12  DLL32  NOTCH32  DLL42  JAG22  
    CRB22  DLK12  NOTCH22  JAG12  DNER2  DLL12  
    9 SIMAP similar genes for CRB1 using alignment to 5 protein entries:     CRUM1_HUMAN (see all proteins):
    F9    NOTCH3    ACAN    PROS1    SNED1    SLIT2
    JAG1    DLK2    NOTCH4

    Find genes that share paralogs with CRB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRB1 (see all 5166)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626362621,2,,4
    CLeber congenital amaurosis 8 (LCA8)4 untested1203838940(+) GAAGAG/TTCTGT 10 V F mis10--------
    rs1378531381,2,,4
    C,FPigmented paravenous chorioretinal atrophy (PPCRA)4 pathogenic1203838994(+) GGGCCG/ATGTGC 10 /M /V mis12Minor allele frequency- A:0.00NA EU 5863
    rs289397201,2,,4
    CRetinitis pigmentosa 12 (RP12)4 pathogenic1203937704(+) CCGAAC/TGCTTC 9 T M mis1 int1 ese30--------
    rs1164713431,2,,4
    C,FRetinitis pigmentosa 12 (RP12)4 --203937976(+) GCCTAC/ACTGAC 9 /T /P mis1 int13Minor allele frequency- A:0.00WA NA 4978
    rs2005732741,2,,4
    CRetinitis pigmentosa 12 (RP12)4 --203987947(+) CAGCCA/GTCAGG 10 H R mis10--------
    VAR_0229494
    Leber congenital amaurosis 8 (LCA8)4--see VAR_0229492 C R mis40--------
    VAR_0671324
    Leber congenital amaurosis 8 (LCA8)4--see VAR_0671322 C Y mis40--------
    VAR_0641804
    Retinitis pigmentosa 12 (RP12)4--see VAR_0641802 C F mis40--------
    VAR_0229644
    Leber congenital amaurosis 8 (LCA8)4--see VAR_0229642 I T mis40--------
    VAR_0229794
    Leber congenital amaurosis 8 (LCA8)4--see VAR_0229792 N H mis40--------

    HapMap Linkage Disequilibrium report for CRB1 (197170592 - 197420592 bp, first 250kb of CRB1)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CRB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669387CNV Deletion23128226
    nsv528460CNV Gain19592680

    Human Gene Mutation Database (HGMD): CRB1
    Locus Specific Mutation Databases (LSDB): CRB1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CRB1
    DNA2.0 Custom Variant and Variant Library Synthesis for CRB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604210   
    OMIM disorders: 600105  613835  172870  
    UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 11 diseases for CRB1:    
    About MalaCards
    pigmented paravenous chorioretinal atrophy    retinitis pigmentosa 12    retinal telangiectasia    leber congenital amaurosis 8
    crb1-related leber congenital amaurosis    retinitis pigmentosa-12, autosomal recessive    crb1-related retinitis pigmentosa    stargardt disease
    leber congenital amaurosis 17    leber congenital amaurosis    retinitis pigmentosa

    5 diseases from the University of Copenhagen DISEASES database for CRB1:
    Leber congenital amaurosis     Retinitis pigmentosa     Fundus dystrophy     Retinal telangiectasia
    Blindness

    Find genes that share disorders with CRB1           About GenesLikeMe

    8 Novoseek inferred disease relationships for CRB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 98.1 26 11231775 (2), 19407021 (2), 11389483 (2), 11734541 (1) (see all 21)
    retinitis pigmentosa 90.2 29 16272259 (3), 11559858 (2), 11389483 (2), 11734541 (1) (see all 24)
    retinal degeneration 83.1 6 17234746 (1), 12187427 (1), 12915475 (1), 16505060 (1) (see all 5)
    visual impairment 61.4 1 18632300 (1)
    retinopathy 60.9 4 12915475 (2), 15914641 (1), 16885194 (1)
    blindness 51.8 1 14750597 (1)
    atrophy 33.5 3 15691574 (1), 16205573 (1), 17234588 (1)
    dysplasia 5.78 2 12915475 (1)

    GeneTests: CRB1
    GeneReviews: CRB1
    Genetic Association Database (GAD): CRB1
    Human Genome Epidemiology (HuGE) Navigator: CRB1 (7 documents)

    Export disorders for CRB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CRB1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with CRB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the CRB1 gene cause Leber congenital amaurosis. (PubMed id 11231775)1, 2, 4, 9 Lotery A.J.... Stone E.M. (Arch. Ophthalmol. 2001)
    2. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PubMed id 17724218)1, 2, 4, 9 Simonelli F.... Banfi S. (Invest. Ophthalmol. Vis. Sci. 2007)
    3. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 2, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    4. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). (PubMed id 10508521)1, 2, 3 den Hollander A.I.... Bergen A.A.B. (Nat. Genet. 1999)
    5. CRB1 mutation spectrum in inherited retinal dystrophies. (PubMed id 15459956)1, 2, 9 den Hollander A.I.... Cremers F.P.M. (Hum. Mutat. 2004)
    6. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PubMed id 15914641)1, 2, 9 Kantardzhieva A.... Wijnholds J. (Invest. Ophthalmol. Vis. Sci. 2005)
    7. CRB1 mutations may result in retinitis pigmentosa without para- arteriolar RPE preservation. (PubMed id 11559858)1, 2, 9 Lotery A.J.... Stone E.M. (Ophthalmic Genet. 2001)
    8. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. (PubMed id 11734541)1, 2, 9 den Hollander A.I.... Cremers F.P.M. (Hum. Mol. Genet. 2001)
    9. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. (PubMed id 11389483)1, 2, 9 den Hollander A.I.... Cremers F.P.M. (Am. J. Hum. Genet. 2001)
    10. Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. (PubMed id 15623792)1, 2, 9 McKay G.J.... Silvestri G. (Invest. Ophthalmol. Vis. Sci. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23418 HGNC: 2343 AceView: CRB1 Ensembl:ENSG00000134376 euGenes: HUgn23418
    ECgene: CRB1 Kegg: 23418 H-InvDB: CRB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CRB1 Pharmacogenomics, SNPs, Pathways
    Mutations of the CRB1 genehttp://www.retina-international.org/files/sci-news/crb1mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CRB1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CRB1 gene:
    Search GeneIP for patents involving CRB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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