Caenorhabditis elegans essential gene bli-1, encoding nematode cuticle collagen, BLIstered cuticle.
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SUMMARY back to top
Summary
Cuticle and basement membrane collagens are extracellular matrix components encoded by a family of about 160 genes known to be expressed to which this gene belongs. Collagens have short interrupted blocks of Gly-X-Y sequence flanked by conserved cysteine residues, akin to vertebrate fibril-associated collagens with interrupted triple helix, and form trimers or higher order polymers. They have been grouped into five main subfamilies. The Caenorhabditis elegans cuticle is a complex multilayered extracellular matrix, consisting predominantly of cuticle collagens and synthesised by the underlying epidermal cell layer (called hypodermis). It is secreted five times during development, in embryos and before each molt, and is slightly different from stage to stage. During cuticle synthesis, the genes are expressed in a distinct temporal series, and the temporal groups contribute distinct discrete substructure of the extracellular matrix (McMahon et al, 2003). For a small number of collagen genes, with no distinctive sequence feature, but certainly critical to assembly or function of the extracellular matrix, such as dpy-2, 3, 7, 8, 10, 5 or 13, sqt-3, lon-3, bli-1, bli-2 or ram-4, loss of function causes a change in body shape (dumpy, squat, long, blistered), or leads to animals that roll when moving (helically twisted), or to male ray morphology defects. Some collagens that participate in the inner basement membranes such as let-2, emb-9, cle-1, mec-5 or unc-122 are essential for viability, or play critical roles in synaptogenesis or synaptic transmission, muscle attachment, cell migration and process guidance. But most other collagens probably have a redundant role, since loss of their function is apparently wild type, and alleles with visible effects in these genes are gain of function mutations. [Main specialists: Jim Kramer and Iain Johnstone][Wormbase] The bli-1 gene encodes an unusual cuticular collagen that is required for proper strut formation within the unique medial layer of the adult cuticle; bli-1 interacts genetically with other cuticular collagens such as bli-2 and rol-1, and may be processed for secretion by BLI-4, a Kex2/subtilisin serine endoproteinase; consistent with its role in adult cuticle formation, bli-1 mRNA is highly expressed only during the L4 larval stage.
Wormbase predicts one model
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AceView summary
According to AceView, this gene is well expressed, 0.5 times the average gene in this release, in L3, L4 larvae and in adult [Kohara and Riddle cDNAs]. The sequence of this gene is defined by 6 cDNA clones. We annotate structural defects or features in 3 cDNA clones.
The gene contains 4 distinct gt-ag introns. Transcription produces one spliced mRNA, 1 alternatively spliced variant and 1 unspliced form. There are 2 validated alternative polyadenylation sites (see the diagram).
Protein coding potential: The spliced and the unspliced mRNAs putatively encode good proteins, altogether 2 different isoforms (1 complete, 2 COOH complete), some containing domains collagen triple helix repeat, nematode cuticle collagen, N-terminal, Small acid-soluble spore protein, SspO [Pfam]; the complete protein appears to be secreted.
Function: There are 2 articles specifically referring to this gene in PubMed. In addition we point below to 12 abstracts. This essential gene is associated to a phenotype (BLIstered cuticle, Embryonic Lethal, Sterile adult). Functionally, the gene has been proposed to participate in a process (sporulation (sensu Bacteria)). Proteins are expected to have molecular function (structural constituent of cuticle) and to localize in various compartments (extracellular space, forespore).

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12
Map on chromosome CHROMOSOME_II, links to other databases and other names back to top ?
Map: This essential gene bli-1 maps on chomosome II at position +2.65 (interpolated). In AceView, it covers 3.19 kb, from 10708882 to 10712073 (WS190), on the direct strand.
Links to: WormBase, NextDB, RNAiDB.
Other names: The gene is also known in Wormgenes/AceView by its positional name 2L1, in Wormbase by its cosmid.number name C09G5.6, in NextDB, the Nematode expression pattern database, as CEYK4882.
Closest AceView homologs in other species back to top ?
The closest human genes, according to BlastP, are the AceView genes COL24A1 (e=3 10^-06), COL9A1 (e=10^-04).
The closest mouse genes, according to BlastP, are the AceView genes Col9a2 (e=9 10^-05), Col9a1 (e=2 10^-04), Col28a1 (e=3 10^-04), Col4a6 (e=0.001), Col3a1 (e=0.001), Col20a1 (e=0.003)
Complete gene on genome diagram:               (in true scale, with colored introns) back to top
Compact gene diagram back to top
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 cDNA clones supporting each intron. Superimposed introns of the same color are identical, of different colors are different.
Mouse over the ending of each transcript gives tissues from which the supporting cDNAs were extracted. 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. Details on tissue of origin for each intron and exon is available from the intron and exons table. Good predicted proteins are in pink, yellow proteins may be partial or unconvincing, green are uORFs. Proteins supported by a single continuous GenBank accession 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.
More legend
Sequences back to top
What is known about the gene and its neighbors on chromosome CHROMOSOME_II back to top
ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications         (see the Legend)
Annotated mRNA diagrams back to top
Bibliography back to top
? Gene Summary Gene on genome mRNA:.a, .b Alternative mRNAs features, proteins, introns, exons, sequences Expression Tissue Function and related genes DCI

To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function and 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 and 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 all variants, their summarized annotations, 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. Merci !