PMC:4157146 / 26063-27053 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157146","sourcedb":"PMC","sourceid":"4157146","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157146","text":"Previous studies supporting our human genetic data have shown that the Chlamydomonas CCDC151 ortholog ODA10 is a constituent of the flagella axoneme and is also present in the cell body.53 The null mutant oda10 Chlamydomonas strain lacks outer dynein arms, and ccdc151 deficiency in zebrafish knockdown morphants also causes a specific loss of ODAs.54 Human CCDC151 encodes a protein of 595 amino acids, and we used SMART to detect its domains, confirming that human CCDC151 is predicted to have three highly conserved coiled-coil domains. Coiled-coil domains are present in numerous proteins of diverse function and are recognized for their abundance in transcription factors involved in cell growth and proliferation and for their role in mediating interactions with other proteins.55 The CCDC151 mutations we identified in the PCD families are both predicted to cause premature protein truncations located within coiled-coil domains and would likely disrupt protein function (Figure 1D).","tracks":[{"project":"2_test","denotations":[{"id":"25192045-24088566-2045887","span":{"begin":186,"end":188},"obj":"24088566"},{"id":"25192045-24067530-2045888","span":{"begin":349,"end":351},"obj":"24067530"},{"id":"25192045-14760737-2045889","span":{"begin":784,"end":786},"obj":"14760737"}],"attributes":[{"subj":"25192045-24088566-2045887","pred":"source","obj":"2_test"},{"subj":"25192045-24067530-2045888","pred":"source","obj":"2_test"},{"subj":"25192045-14760737-2045889","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ecc893","default":true}]}]}}