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Aliases for CRB3 Gene

Aliases for CRB3 Gene

  • Crumbs 3, Cell Polarity Complex Component 2 3 5
  • Crumbs Homolog 3 (Drosophila) 2
  • Crumbs Family Member 3 2

External Ids for CRB3 Gene

Previous GeneCards Identifiers for CRB3 Gene

  • GC19P006558
  • GC19P006403
  • GC19P006414
  • GC19P006228

Summaries for CRB3 Gene

Entrez Gene Summary for CRB3 Gene

  • This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesis and ciliogenesis or the formation of tight junctions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

GeneCards Summary for CRB3 Gene

CRB3 (Crumbs 3, Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with CRB3 include Leber Congenital Amaurosis 8 and Leber Congenital Amaurosis. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and PI3K-Akt signaling pathway. GO annotations related to this gene include protein domain specific binding and SH3 domain binding.

UniProtKB/Swiss-Prot for CRB3 Gene

  • Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions.

Gene Wiki entry for CRB3 Gene

Additional gene information for CRB3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRB3 Gene

Genomics for CRB3 Gene

Regulatory Elements for CRB3 Gene

Enhancers for CRB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H006457 1.1 ENCODE 0.7 -4.3 -4299 3 HDGF PKNOX1 FOXA2 MLX ARNT SIN3A ARID4B FEZF1 DMAP1 ZNF2 KHSRP SNRPEP4 RANBP3 SLC25A23 VMAC ENSG00000267571 ZNF557 LOC390877 FLJ25758 MBD3L3
GH19H006463 0.9 ENCODE 0.7 +0.8 762 1 ELF3 PKNOX1 ARID4B DMAP1 THRB ZBTB40 YY1 THAP11 SP5 USF2 SLC25A23 CRB3
GH19H006462 0.8 FANTOM5 ENCODE 0.7 -1.3 -1291 0 BCOR TAL1 ZEB2 ZEB1 SLC25A23 RFX2 CRB3 SLC25A41
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRB3 on UCSC Golden Path with GeneCards custom track

Promoters for CRB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106520 623 401 ELF3 ARID4B DMAP1 THRB YY1 THAP11 SP5 USF2 REST ELF1

Genomic Location for CRB3 Gene

Chromosome:
19
Start:
6,463,777 bp from pter
End:
6,467,221 bp from pter
Size:
3,445 bases
Orientation:
Plus strand

Genomic View for CRB3 Gene

Genes around CRB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRB3 Gene

Proteins for CRB3 Gene

  • Protein details for CRB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUF7-CRUM3_HUMAN
    Recommended name:
    Protein crumbs homolog 3
    Protein Accession:
    Q9BUF7
    Secondary Accessions:
    • A8KA91
    • D6W643
    • Q8N0V8
    • Q8WVA0

    Protein attributes for CRB3 Gene

    Size:
    120 amino acids
    Molecular mass:
    12854 Da
    Quaternary structure:
    • Interacts with MPP5, PARD6A and PATJ.

    Three dimensional structures from OCA and Proteopedia for CRB3 Gene

    Alternative splice isoforms for CRB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRB3 Gene

Post-translational modifications for CRB3 Gene

  • Glycosylation at posLast=3636
  • Modification sites at PhosphoSitePlus

Other Protein References for CRB3 Gene

No data available for DME Specific Peptides for CRB3 Gene

Domains & Families for CRB3 Gene

Gene Families for CRB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CRB3 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CRB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BUF7

UniProtKB/Swiss-Prot:

CRUM3_HUMAN :
  • The PDZ-binding motif is involved in the interactions with PARD6A and MPP5.
Domain:
  • The PDZ-binding motif is involved in the interactions with PARD6A and MPP5.
genes like me logo Genes that share domains with CRB3: view

Function for CRB3 Gene

Molecular function for CRB3 Gene

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

Gene Ontology (GO) - Molecular Function for CRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0017124 SH3 domain binding IPI 17332497
GO:0019904 protein domain specific binding IPI 17332497
genes like me logo Genes that share ontologies with CRB3: view
genes like me logo Genes that share phenotypes with CRB3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CRB3

CRISPR Products

miRNA for CRB3 Gene

miRTarBase miRNAs that target CRB3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CRB3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CRB3 Gene

Localization for CRB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRB3 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRB3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with CRB3: view

Pathways & Interactions for CRB3 Gene

genes like me logo Genes that share pathways with CRB3: view

Pathways by source for CRB3 Gene

2 KEGG pathways for CRB3 Gene
1 Qiagen pathway for CRB3 Gene

Gene Ontology (GO) - Biological Process for CRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070830 bicellular tight junction assembly TAS --
GO:0072659 protein localization to plasma membrane IDA 17332497
genes like me logo Genes that share ontologies with CRB3: view

No data available for SIGNOR curated interactions for CRB3 Gene

Drugs & Compounds for CRB3 Gene

No Compound Related Data Available

Transcripts for CRB3 Gene

Unigene Clusters for CRB3 Gene

Crumbs homolog 3 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CRB3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CRB3 Gene

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

Relevant External Links for CRB3 Gene

GeneLoc Exon Structure for
CRB3
ECgene alternative splicing isoforms for
CRB3

Expression for CRB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRB3 Gene

mRNA differential expression in normal tissues according to GTEx for CRB3 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.2), Pancreas (x5.2), and Colon - Transverse (x4.2).

Protein differential expression in normal tissues from HIPED for CRB3 Gene

This gene is overexpressed in Urine (32.6), Pancreas (13.7), Prostate (9.4), and Colon (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CRB3 Gene



Protein tissue co-expression partners for CRB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRB3 Gene:

CRB3

SOURCE GeneReport for Unigene cluster for CRB3 Gene:

Hs.150319

mRNA Expression by UniProt/SwissProt for CRB3 Gene:

Q9BUF7-CRUM3_HUMAN
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.

Evidence on tissue expression from TISSUES for CRB3 Gene

  • Pancreas(4.3)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with CRB3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CRB3 Gene

Orthologs for CRB3 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for CRB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRB3 34
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crb3 34
  • 56 (a)
OneToOne
Species where no ortholog for CRB3 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CRB3 Gene

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

Paralogs for CRB3 Gene

(1) SIMAP similar genes for CRB3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for CRB3 Gene

genes like me logo Genes that share paralogs with CRB3: view

No data available for Paralogs for CRB3 Gene

Variants for CRB3 Gene

Sequence variations from dbSNP and Humsavar for CRB3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000198635 -- 6,463,272(+) GTTTC(A/G)AACTC upstream-variant-2KB
rs1000646940 -- 6,462,581(+) TAGGT(A/G)AGCCA upstream-variant-2KB
rs1001386900 -- 6,464,650(+) AGGAG(A/G)GGCGA reference, synonymous-codon, utr-variant-5-prime
rs1001412854 -- 6,461,876(+) CTTGG(A/G)GTCAG upstream-variant-2KB
rs1001421289 -- 6,467,408(+) CAGAG(C/T)GAGGG downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CRB3 Gene

Variant ID Type Subtype PubMed ID
nsv833727 CNV loss 17160897

Variation tolerance for CRB3 Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRB3 Gene

Disorders for CRB3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CRB3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber congenital amaurosis 8
  • lca8
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search CRB3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CRB3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRB3
genes like me logo Genes that share disorders with CRB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CRB3 Gene

Publications for CRB3 Gene

  1. A novel Crumbs3 isoform regulates cell division and ciliogenesis via importin beta interactions. (PMID: 17646395) Fan S … Margolis B (The Journal of cell biology 2007) 3 22 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. CRB3 binds directly to Par6 and regulates the morphogenesis of the tight junctions in mammalian epithelial cells. (PMID: 14718572) Lemmers C … Le Bivic A (Molecular biology of the cell 2004) 3 4 60
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  5. The Crumbs3-Pals1 complex participates in the establishment of polarity in mammalian epithelial cells. (PMID: 12771187) Roh MH … Margolis B (Journal of cell science 2003) 3 4 60

Products for CRB3 Gene

Sources for CRB3 Gene

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