UniProt ID: A0A8M9PTX5 |
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000256|ARBA:ARBA00004138}. SIMILARITY: Belongs to the CLUAP1 family. {ECO:0000256|ARBA:ARBA00008340}. |
UniProt ID: A0A8M9P5T3 |
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000256|ARBA:ARBA00004138}. SIMILARITY: Belongs to the CLUAP1 family. {ECO:0000256|ARBA:ARBA00008340}. |
UniProt ID: A0A8M9PXC0 |
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000256|ARBA:ARBA00004138}. SIMILARITY: Belongs to the CLUAP1 family. {ECO:0000256|ARBA:ARBA00008340}. |
UniProt ID: Q7ZVC2 |
FUNCTION: Required for cilia biogenesis and maintenance in the kidney, the lateral line organ and eye. Appears to function within the multiple intraflagellar transport complex B (IFT-B). {ECO:0000269|PubMed:19464178, ECO:0000269|PubMed:22102889}. SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q96AJ1}. Cell projection, cilium {ECO:0000305|PubMed:22102889}. DEVELOPMENTAL STAGE: Expressed maternally and ubiquitously throughout the embryo across different developmental stages from early 8-cell stage to 24 hpf. {ECO:0000269|PubMed:22102889}. DISRUPTION PHENOTYPE: Mutant animals develop ventrally curved bodies visible at the end of 1 dpf, followed by bilateral kidney cysts in the glomerular-tubular region detectable at 2 dpf. Cilia in the anterior pronephric ducts are already visibly defective at 1 dpf and by 5 dpf, cilia are completely absent from these ducts. On the other hand, cilia from the posterior pronephric ducts remain unaffected. Cilia biogenesis is also defective in the retina, with the outer segments of photoreceptor cells having modified cilia. No visible cilia in the lateral line organ. Pericardial edema is also observed at 5 dpf (PubMed:22102889). Morpholino knockdown in embryos results in laterality defects, a significant reduction or loss of Kupffer's vesicle cilia, and reduction or loss of ptc1 and myod expression (PubMed:19464178). A subset of embryos display shortened body axes and partial or full cyclopia while another subset have severe gastrulation defects (PubMed:19464178). {ECO:0000269|PubMed:19464178, ECO:0000269|PubMed:22102889}. SIMILARITY: Belongs to the CLUAP1 family. {ECO:0000305}. SEQUENCE CAUTION: Sequence=AAH97072.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; |
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