Summary
[Wormbase] ptc-1 encodes an ortholog of Drosophila PATCHED (PTC) and human PTCH (OMIM:601309, mutated in basal cell nevus syndrome), which defines one of seven paralogous families of sterol sensing domain (SSD) proteins; PTC-1 is required for cytokinesis in the germline, but not in somatic cells (the converse of PTR-2's function, and a role conserved in C. briggsae); PTC-1 is also required to isolate meiotic germline nuclei from one another so that their nuclear divisions are asynchronous; PTC-1 is (very weakly) required for normal molting; PTC-1 protein is found in the membranes of all germline cells except sperm; ptc-1 transcripts are present in germline, very early (2- and 4-cell) embryos, and in the germline precursor P4; ptc-1 null mutants have normal somatic tissues, but are sterile with multinucleate oocytes; murine PTCH is found in midbodies by mass tandem spectroscopy, indicating that PTC-1's function in cytokinesis may be conserved among metazoa; since PTC-1 has an SSD, PTC-1's core function may be to transport proteins, lipids, or sterols.
Wormbase predicts one model, but Caenorhabditis elegans 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 5 spliced variants.
AceView synopsis, each blue text links to tables and details Expression: According to AceView, this gene is expressed at very high level, 4.0 times the average gene in this release, only in embryos, L1, L2 and L3 larvae [Kohara cDNAs], limited to the germline [Kuwabara et al, 2000]. The expression profile for the gene, derived from the proportion of animals at each stage in each Kohara library is: embryos 31%, L1 or L2 larvae 69%, L3 to adult 0%. See the in situ hybridization pattern in Kohara NextDB. The sequence of this gene is defined by 15 cDNA clones and 38 elements defined by RNA-seq, some from l1 (seen 8 times), embryo (3), whole worm (once). We annotate structural defects or features in 9 cDNA clones. Alternative mRNA variants and regulation: The gene contains 12 distinct gt-ag introns. Transcription produces at least 5 alternatively spliced mRNAs. Variant a is transpliced to SL1, d to SL3. There are 2 probable alternative promotors, 4 non overlapping alternative last exons and 3 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 3' end, overlapping exons with different boundaries. Function: There are 3 articles specifically referring to this gene in PubMed. In addition we point below to 5 abstracts. This essential gene is associated to a phenotype (Sterile adult, CYtoKinesis defect). Proteins are expected to have molecular function (patched receptor activity) and to localize in various compartments (membrane, plasma membrane). Protein coding potential: 2 spliced mRNAs putatively encode good proteins, altogether 2 different isoforms (1 complete, 1 partial), some containing patched domain [Pfam], some transmembrane domains, a coiled coil stretch [Psort2]. The remaining 3 mRNA variants (3 spliced; 1 partial) appear not to encode good proteins.
Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12. Map on chromosome II, links to other databases and other names Map: This essential gene ptc-1 maps on chomosome II at position +0.50 (interpolated). In AceView, it covers 16.05 kb, from 7884398 to 7900452 (WS190), on the direct strand. Links to:WormBase, NextDB, RNAiDB. Other names: The gene is also known in Wormgenes/AceView by its positional name 2I189, in Wormbase by its cosmid.number name ZK675.1, in NextDB, the Nematode expression pattern database, as CEYK7574.
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
The mRNAs diagrams with the aligned cDNA sequence accessions and their mismatches are available in the mRNA pages accessible from the tab at the top of the page, or here:
In Flash: .a, .b, .c, .d, .e.
or in GIF: .a, .b, .c, .d, .e
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 !
