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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRB3 Gene

protein-coding   GIFtS: 52
GCID: GC19P006414

Crumbs Homolog 3 (Drosophila)

  See 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)
About This Section

Aliases
Crumbs Homolog 3 (Drosophila)1 2
Crumbs Protein Homolog 32
Protein Crumbs Homolog 32

External Ids:    HGNC: 202371   Entrez Gene: 923592   Ensembl: ENSG000001305457   OMIM: 6097375   UniProtKB: Q9BUF73   

Export aliases for CRB3 gene to outside databases

Previous GC identifers: GC19P006558 GC19P006403 GC19P006228


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CRB3 Gene:
This gene encodes a member of the Crumbs family of proteins. This protein may play a role in epithelial cell
polarity and is associated with tight junctions at the apical surface of epithelial cells. Alternate
transcriptional splice variants, encoding different isoforms, have been characterized. (provided by RefSeq, Jul
2008)

GeneCards Summary for CRB3 Gene: 
CRB3 (crumbs homolog 3 (Drosophila)) is a protein-coding gene. Diseases associated with CRB3 include leber congenital amaurosis, and prostatitis, and among its related super-pathways are Cell-cell junction organization and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include SH3 domain binding and protein domain specific binding.

UniProtKB/Swiss-Prot: CRUM3_HUMAN, Q9BUF7
Function: Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the
morphogenesis of tight junctions

Gene Wiki entry for CRB3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRB3 gene promoter:
         MAZR   Pax-5   AML1a   MIF-1   LUN-1   Nkx2-5   LCR-F1   E47   Roaz   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CRB3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CRB3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRB3


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

CRB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRB3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P006414:  view genomic region     (about GC identifiers)

Start:
6,463,788 bp from pter      End:
6,467,232 bp from pter
Size:
3,445 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRUM3_HUMAN, Q9BUF7 (See protein sequence)
Recommended Name: Protein crumbs homolog 3 precursor  
Size: 120 amino acids; 12854 Da
Subunit: Interacts with MPP5, PARD6A and INADL
Subcellular location: Apical cell membrane; Single-pass type I membrane protein. Cell junction, tight junction.
Note=Localizes primarily to the apical membrane with a small fraction in the upper part of tight junctions of
epithelial cells
Secondary accessions: A8KA91 D6W643 Q8N0V8 Q8WVA0
Alternative splicing: 2 isoforms:  Q9BUF7-1   Q9BUF7-2   

Explore the universe of human proteins at neXtProt for CRB3: NX_Q9BUF7

Explore proteomics data for CRB3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BUF7

  • CRB3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CRB3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_631900.1  NP_777377.1  

    ENSEMBL proteins: 
     ENSP00000469707   ENSP00000472010   ENSP00000349204   ENSP00000310123  
    Reactome Protein details: Q9BUF7
    Human Recombinant Protein Products for CRB3: 
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    Cloud-Clone Corp. Proteins for CRB3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005923tight junction IEA--
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IEA--

    CRB3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9BUF7

    UniProtKB/Swiss-Prot: CRUM3_HUMAN, Q9BUF7
    Domain: The PDZ-binding motif is involved in the interactions with PARD6A and MPP5


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRUM3_HUMAN, Q9BUF7
    Function: Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the
    morphogenesis of tight junctions

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017124SH3 domain binding IPI17332497
    GO:0019904protein domain specific binding IPI17332497
         
    CRB3 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Crb3 (no phenotypes)

    CRB3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Crb3tm1Lex for CRB3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CRB3 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CRB3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell-cell junction organization
    Cell-cell junction organization0.69
    Cell-Cell communication0.64
    Cell junction organization0.69
    Tight junction interactions0.49
    2Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    3Tight junction
    Tight junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CRB3
        Epithelial Tight Junctions


    4        Reactome Pathways for CRB3
        Tight junction interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    1         Kegg Pathway  (Kegg details for CRB3):
        Tight junction


    CRB3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRB3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for CRB3 (Q9BUF73 ENSP000003492044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPP5Q8N3R93, ENSP000002616814I2D: score=1 STRING: ENSP00000261681
    PARD6AQ9NPB63, ENSP000002192554I2D: score=1 STRING: ENSP00000219255
    INADLENSP000003602004STRING: ENSP00000360200
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034329cell junction assembly TAS--
    GO:0045216cell-cell junction organization TAS--
    GO:0070830tight junction assembly TAS--
    GO:0072659protein localization to plasma membrane IDA17332497

    CRB3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRB3 (CRUM3)

    Search CenterWatch for drugs/clinical trials and news about CRB3 / CRUM3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for CRB3 gene (2 alternative transcripts): 
    NM_139161.3  NM_174881.2  

    Unigene Cluster for CRB3:

    Crumbs homolog 3 (Drosophila)
    Hs.150319  [show with all ESTs]
    Unigene Representative Sequence: AY103469
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598494 ENST00000600229 ENST00000356762(uc002mey.3 uc002mez.3 uc002mfa.3)
    ENST00000308243
    miRNA
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    hsa-miR-377
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF503290.1 AK000653.1 AK292956.1 AY103469.1 AY358684.1 BC002652.2 BC018409.1 

    4 DOTS entries:

    DT.404203  DT.97811647  DT.100021817  DT.97824364 

    24/76 AceView cDNA sequences (see all 76):

    BM052788 BM773470 NM_174882 BM998983 AW300987 BI966036 BM818275 CB305882 
    CK903996 BM273031 AF503290 BM273146 AI911820 BQ017203 NM_174881 NM_139161 
    BM126963 BE531149 AI824888 BQ012165 BM769084 BM893793 BX107331 AW205946 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CRB3    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b
    SP1:                    -                       -     -               
    SP2:        -     -     -                                             
    SP3:                    -                                             
    SP4:                                                                  


    ECgene alternative splicing isoforms for CRB3

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CRB3 expression in normal human tissues (normalized intensities)      CRB3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCGAGGC
    CRB3 Expression
    About this image


    CRB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud
             kidney ; cells in glomeruli   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Pancreas (Endocrine System)
             pancreas ; exocrine glandular cells   
     
     Intestine (Gastrointestinal Tract)
             ileum   
     
     Lung (Respiratory System)
             lung ; macrophages   

    See CRB3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRB3

    SOURCE GeneReport for Unigene cluster: Hs.150319

    UniProtKB/Swiss-Prot: CRUM3_HUMAN, Q9BUF7
    Tissue specificity: Preferentially expressed in epithelial tissues. Expressed at high levels in lung, kidney,
    retina, colon and mammary glands. Expressed at moderate levels in liver, spleen, pancreas, placenta and prostate

        SABiosciences Expression via Pathway-Focused PCR Array including CRB3: 
              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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CRB3 gene from 2/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crb31 , 5 crumbs homolog 3 (Drosophila)1, 5 69.03(n)1
    67.26(a)1
      17 (29.65 cM)5
    2249121  NM_177638.41  NP_808306.11 
     570591055 
    lizard
    (Anolis carolinensis)
    Reptilia CRB36
    crumbs homolog 3 (Drosophila)
    32(a)
    1 ↔ 1
    2(76226540-76237253)


    ENSEMBL Gene Tree for CRB3 (if available)
    TreeFam Gene Tree for CRB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRB3 gene
    1 SIMAP similar gene for CRB3 using alignment to 1 protein entry:     CRUM3_HUMAN:
    CRB2

    CRB3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CRB3
    PGOHUM00000237519


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/128 SNPs in CRB3 are shown (see all 128)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1467912921,2
    --6387266(+) GTTCCC/TCCTAC 2 -- us2k10--------
    rs1896691491,2
    --6387455(+) GGTATG/TTACAA 2 -- us2k10--------
    rs1849271,2
    C,F--6387585(+) ATGATA/GATGCA 2 -- us2k14Minor allele frequency- G:0.01MN NA WA 190
    rs1811475161,2
    --6387700(+) AGTGGC/TGTGAT 2 -- us2k10--------
    rs1862861871,2
    --6387784(+) ACAGGC/TGCCCA 2 -- us2k10--------
    rs1865677151,2
    --6387863(+) GGTCTC/GGAACT 2 -- us2k10--------
    rs1456949921,2
    C--6387864(+) GTCTCA/GAACTC 2 -- us2k10--------
    rs1382481811,2
    --6387870(+) AACTCA/GTGACC 2 -- us2k10--------
    rs1683491,2
    C,F,A,H--6388060(+) tgcaaT/Cctctg 2 -- us2k1 tfbs38Minor allele frequency- C:0.44NA WA CSA 16
    rs1433656031,2
    C--6388106(+) CCCCCA/GAGTAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRB3 (6463788 - 6467232 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CRB3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv910916CNV Loss21882294
    nsv910924CNV Loss21882294
    nsv910923CNV Loss21882294
    nsv833727CNV Loss17160897
    dgv3698n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609737    OMIM disorders: --

    2 diseases for CRB3:    About MalaCards
    leber congenital amaurosis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for CRB3:
    Leber congenital amaurosis

    CRB3 for disorders           About GeneDecksing


    Export disorders for CRB3 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)
    About This Section

    PubMed articles for CRB3 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with CRB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CRB3 binds directly to Par6 and regulates the morphogenesis of the tight junctions in mammalian epithelial cells. (PubMed id 14718572)1, 2 Lemmers C.... Le Bivic A. (2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Mammalian Crumbs3 is a small transmembrane protein linked to protein associated with Lin-7 (Pals1). (PubMed id 12527193)1, 2 Makarova O.... Margolis B. (2003)
    4. The Crumbs3-Pals1 complex participates in the establishment of polarity in mammalian epithelial cells. (PubMed id 12771187)1, 2 Roh M.H.... Margolis B. (2003)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. A novel Crumbs3 isoform regulates cell division and ciliogenesis via importin beta interactions. (PubMed id 17646395)1, 9 Fan S....Margolis B. (2007)
    7. The WD40 protein Morg1 facilitates Par6-aPKC binding t o Crb3 for apical identity in epithelial cells. (PubMed id 23439680)1 Hayase J....Sumimoto H. (2013)
    8. The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation. (PubMed id 17332497)1 Stucke V.M....Hall A. (2007)
    9. Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells. (PubMed id 17988153)1 Pardossi-Piquard R....Fraser P.E. (2007)
    10. Multiple regions of Crumbs3 are required for tight junction formation in MCF10A cells. (PubMed id 15976445)1 Fogg V.C....Margolis B. (2005)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 92359 HGNC: 20237 AceView: CRB3 Ensembl:ENSG00000130545 euGenes: HUgn92359
    ECgene: CRB3 Kegg: 92359 H-InvDB: CRB3

    (According to HUGE)
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    NameDescription
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