LINC01587 (formerly C4orf6, AC1) is a long intergenic non-coding RNA locus on chromosome 4p16 that contains a 93-codon open reading frame, recorded by UniProt as an uncharacterised protein. The predicted product has no recognised domain, family membership or transmembrane segment. The transcript was first cloned as a differentially expressed band during retinoic-acid differentiation of SH-SY5Y neuroblastoma cells. Patients homozygous for a deletion removing this locus together with EVC, EVC2 and STK32B have Ellis-van Creveld syndrome with at most mild intellectual deficit. No function of the RNA or of the putative protein is known.
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0007399 nervous system development | TAS PMID:9016955 Fluorescent differential display analysis of gene expression... | REMOVE | Summary: Traceable author statement (ProtInc) of nervous system development, based on the original cloning paper, which detected the transcript as differentially expressed during retinoic-acid-induced differentiation of a neuroblastoma line. Reason: A change in transcript level during neuroblastoma differentiation is not evidence that the gene product does any of the work of nervous system development, and the paper did not study the protein at all. The locus is classified by HGNC and Ensembl as a long non-coding RNA, and no protein-level study is cited by the UniProt entry. Human homozygous deletion of the locus (with three other genes) produces at most a mild neurological phenotype. Nothing specific to this product supports the process term. Supporting Evidence: PMID:9016955 we analyzed the gene expression profile in the retinoic acid-induced differentiation of a human neuroblastoma cell line SH-SY5Y PMID:18454448 loss of the novel genes C4orf6 and STK32B causes at most mild mental deficit |
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Download this section (compressed HTML)Q: Is the 93-codon ORF of LINC01587 translated? Ribosome-profiling or targeted proteomics evidence for a unique peptide would decide whether the UniProt entry describes a real product.
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