Human Gene CRB3 (ENST00000600229.6_8) from GENCODE V47lift37
  Description: crumbs cell polarity complex component 3, transcript variant 2 (from RefSeq NM_139161.5)
Gencode Transcript: ENST00000600229.6_8
Gencode Gene: ENSG00000130545.16_15
Transcript (Including UTRs)
   Position: hg19 chr19:6,464,282-6,467,232 Size: 2,951 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr19:6,464,713-6,466,683 Size: 1,971 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:6,464,282-6,467,232)mRNA (may differ from genome)Protein (120 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CRUM3_HUMAN
DESCRIPTION: RecName: Full=Protein crumbs homolog 3; Flags: Precursor;
FUNCTION: Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions.
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.
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.
DOMAIN: The PDZ-binding motif is involved in the interactions with PARD6A and MPP5.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CRB3
Diseases sorted by gene-association score: leber congenital amaurosis 8 (5), leber congenital amaurosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.04 RPKM in Esophagus - Mucosa
Total median expression: 72.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.70174-0.389 Picture PostScript Text
3' UTR -217.20549-0.396 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q9BUF7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0019904 protein domain specific binding

Biological Process:
GO:0070830 bicellular tight junction assembly
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030054 cell junction
GO:0032991 macromolecular complex
GO:0045177 apical part of cell
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AY103469 - Homo sapiens crumbs 3 mRNA, complete cds.
AK292956 - Homo sapiens cDNA FLJ76581 complete cds, highly similar to Homo sapiens crumbs homolog 3 (Drosophila) (CRB3), transcript variant 2, mRNA.
AF503290 - Homo sapiens unknown protein mRNA, complete cds.
AY358684 - Homo sapiens clone DNA60625 CRB3 (UNQ588) mRNA, complete cds.
BC018409 - Homo sapiens crumbs homolog 3 (Drosophila), mRNA (cDNA clone MGC:17303 IMAGE:3861124), complete cds.
JD343262 - Sequence 324286 from Patent EP1572962.
AK000653 - Homo sapiens cDNA FLJ20646 fis, clone KAT02157.
BC002652 - Homo sapiens crumbs homolog 3 (Drosophila), mRNA (cDNA clone MGC:4280 IMAGE:3610257), complete cds.
KJ895183 - Synthetic construct Homo sapiens clone ccsbBroadEn_04577 CRB3 gene, encodes complete protein.
KJ899945 - Synthetic construct Homo sapiens clone ccsbBroadEn_09339 CRB3 gene, encodes complete protein.
JD260207 - Sequence 241231 from Patent EP1572962.
JD140956 - Sequence 121980 from Patent EP1572962.
JD477379 - Sequence 458403 from Patent EP1572962.
JD269452 - Sequence 250476 from Patent EP1572962.
JD364795 - Sequence 345819 from Patent EP1572962.
JD392138 - Sequence 373162 from Patent EP1572962.
JD054139 - Sequence 35163 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BUF7 (Reactome details) participates in the following event(s):

R-HSA-420661 Crumbs forms a ternary complex with Pals1 and PATJ at tight junctions
R-HSA-420029 Tight junction interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: A8KA91, CRB3 , CRUM3_HUMAN, D6W643, ENST00000600229.1, ENST00000600229.2, ENST00000600229.3, ENST00000600229.4, ENST00000600229.5, NM_139161, Q8N0V8, Q8WVA0, Q9BUF7, uc327epp.1, uc327epp.2, UNQ588/PRO1158
UCSC ID: ENST00000600229.6_8
RefSeq Accession: NM_139161.5
Protein: Q9BUF7 (aka CRUM3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.