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C2CD3
Component of the centrioles that acts as a positive regulator of centriole elongation. Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation. Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3. 5 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Chromosomal Location of Human Ortholog: 11q13.4 |
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Cellular Component:
centriolar satellite; centriole; centrosome; ciliary basal body; cytosol
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Molecular Function:
protein binding
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Biological Process:
brain development; centriole elongation; ciliary basal body-plasma membrane docking; embryonic digit morphogenesis; heart looping; in utero embryonic development; neural plate axis specification; neural tube development; non-motile cilium assembly; protein localization to centrosome; protein processing; regulation of proteolysis; regulation of smoothened signaling pathway
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Disease: Orofaciodigital Syndrome Xiv
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Reference #:
Q4AC94
(UniProtKB)
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Alt. Names/Synonyms: C2 calcium dependent domain containing 3; C2 calcium-dependent domain containing 3; C2 domain containing 3 centriole elongation regulator; C2 domain-containing protein 3; C2CD3; DKFZp586P0123; FLJ34770; OFD14
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Gene Symbols: C2CD3
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Molecular weight:
260,389 Da
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Basal Isoelectric point:
6.7
Predict pI for various phosphorylation states
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