RefSeq annotates one representative transcript (NM included in AceView variant.a), but Mus musculus cDNA sequences in GenBank, dbEST, Trace and SRA, filtered against clone rearrangements, coaligned on the genome and clustered in a minimal non-redundant way by the manually supervised AceView program, support at least 8 spliced variants.
AceView synopsis, each blue text links to tables and details
Note that this locus is complex: it appears to produce several proteins with no sequence overlap. Expression: According to AceView, this gene is expressed at very high level, 4.7 times the average gene in this release. The sequence of this gene is defined by 1123 GenBank accessions, some from brain (seen 56 times), whole brain (55), eye (38), whole eye (37), mammary (32), embryo (23), neural retina (17) and 84 other tissues. We annotate structural defects or features in 3 cDNA clones. Alternative mRNA variants and regulation: The gene contains 19 distinct introns (18 gt-ag, 1 gc-ag). Transcription produces 11 different mRNAs, 8 alternatively spliced variants and 3 unspliced forms. There are 5 probable alternative promotors, 3 non overlapping alternative last exons and 3 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, overlapping exons with different boundaries, splicing versus retention of one intron. 1179 bp of this gene are antisense to spliced gene Ulk4, raising the possibility of regulated alternate expression. Function: There are 458 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (behavior/neurological phenotype; cardiovascular system phenotype; cellular phenotype; craniofacial phenotype; digestive/alimentary phenotype; embryogenesis phenotype; endocrine/exocrine gland phenotype; growth/size phenotype; hearing/vestibular/ear phenotype and 15 others), proposed to participate in pathways (Adherens junction, Basal cell carcinoma, Colorectal cancer, Endometrial cancer, Focal adhesion, Leukocyte transendothelial migration, Melanogenesis, Prostate cancer, Thyroid cancer, Tight junction, Wnt signaling pathway) and processes (bone resorption, camera-type eye morphogenesis, cell differentiation, cell fate determination, cell fate specification, cell maturation, cell-cell adhesion, cellular morphogenesis during differentiation, cellular process, dorsal/ventral axis specification, dorsal/ventral pattern formation, ectoderm development, embryonic arm morphogenesis, embryonic digit morphogenesis, embryonic hindlimb morphogenesis, endoderm formation, endodermal cell fate commitment, forebrain development, gastrulation (sensu Mammalia), heart development, hemopoiesis, lung development, morphogenesis of embryonic epithelium, negative regulation of cell differentiation, negative regulation of osteoclast differentiation, negative regulation of transcription from RNA polymerase II promoter, negative regulation of transcription, DNA-dependent, odontogenesis (sensu Vertebrata), pancreas development, patterning of blood vessels, positive regulation of epithelial cell differentiation, positive regulation of osteoblast differentiation, positive regulation of transcription, positive regulation of transcription from RNA polymerase II promoter, positive regulation of transcription, DNA-dependent and 12 others). Proteins are expected to have molecular functions (alpha-catenin binding, cadherin binding, chromatin binding, DNA binding, double-stranded DNA binding, protein binding, transcription activator activity, transcription coactivator activity, transcription factor activity, transcription factor binding, structural molecule activity) and to localize in various compartments (adherens junction, apical junction complex, apical part of cell, basolateral plasma membrane and 15 others).
Please see the Jackson Laboratory Mouse Genome Database/Informatics site MGI_88276 for in depth functional annotation of this gene. Protein coding potential: 7 spliced and 2 unspliced mRNAs putatively encode good proteins, altogether 8 different isoforms (4 complete, 1 COOH complete, 3 partial), some containing domains Armadillo, HEAT [Pfam], a coiled coil stretch [Psort2]. The remaining 2 mRNA variants (1 spliced, 1 unspliced; 2 partial) appear not to encode good proteins.
Isoform Ctnnb1.kSep07-unspliced is annotated using as Met a Kozak-compatible a..ACGg start, thereby gaining 69 amino acids N-terminal to the first AUG.
Please choose between the zoomable GIF version., and the HTML5/SVG version.
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones.
Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript. Read more...
Mouse over the ending of each transcript gives tissues from which the supporting cDNAs were extracted. Details on tissue of origin for each intron and exon is available from the intron and exons table.
Click on any transcript to open the specific mRNA page, to see the exact cDNA clone support and eventual SNPs and to get details on tissues, sequences, mRNA and protein annotations. Proteins supported by a single continuous cDNA sequence lead to underlining the name/ending of the variant. Names not underlined result from cDNA concatenation in the coding region and should be experimentally checked.
Introns are depicted by broken lines; the height of the top of each intron reflects the relative number of clones supporting this intron. ]^[ A pink broken line denotes an intron with standard boundaries (gt-ag or gc-ag) that is exactly supported (i.e. a cDNA sequence exactly matches the genome over 16 bp, 8 on both sides of the intron). ] ^ ] A blue broken line denotes non-standard introns, exactly supported, but with non-standard at-ac or any other boundaries. ]-[ Pink and ] - ] blue straight lines represent 'fuzzy' introns of the standard and non-standard types respectively, those introns do not follow the 16 bp rule. Black straight lines ]-[denote gaps in the alignments.
Exons: Wide filled pink areas represent putative protein coding regions, narrow empty pink boxes represent the 5'UTR (on the left) and 3' UTR (on the right). Flags identify validated endings: cap site on the 5' side, polyadenylation site on the 3' side. Filled flags correspond to frequent events while empty flags have lesser supporting cDNAs (yet all are validated); at the 3' side, black flags are associated to the main AATAAA signal, blue flags to any single letter variant of the main . More explanations are given in the gene help file
To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function, regulation, related genes ' tab at the top of the page. The 'Gene Summary' page includes all we learnt about the gene, functional annotations of neighboring genes, maps, links to other sites and the bibliography. The 'Function, regulation, related genes ' page includes Diseases (D), Pathways, GO annotations, conserved domains (C), interactions (I) reference into function, and pointers to all genes with the same functional annotation.
To compare alternative variants, their summarized annotations, predicted proteins, introns and exons, or to access any sequence, click the 'Alternative mRNAs features' tab. To see a specific mRNA variant diagram, sequence and annotation, click the variant name in the 'mRNA' tab. To examine expression data from all cDNAs clustered in this gene by AceView, click the 'Expression tissue'.
If you know more about this gene, or found errors, please share your knowledge. Thank you !