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Details on Person UniProt:Q4AC94 C2CD3
| Class:Id | ReferenceGeneProduct:220573 |
|---|---|
| _chainChangeLog | chain:1-2353 added on Fri February 6 2015 |
| _displayName | UniProt:Q4AC94 C2CD3 |
| _timestamp | 2024-11-03 20:18:10 |
| chain | chain:1-2353 |
| checksum | D559291AEB1B0DA1 |
| comment | FUNCTION Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). 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 (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3.SUBUNIT Interacts with IFT88, BBS4 and PCM1 (By similarity). Interacts with OFD1; OFD1 may act as a negative regulator of C2CD3. Associates with the BBSome complex.INTERACTION Localizes to centrioles and procentrioles both in interphase and mitosis. Localizes to centriolar satellites, localization is dependent on PCM1 and dynein-mediated retrograde transport. Also localizes to the distal ends of the mother and daughter centrioles.ALTERNATIVE PRODUCTS The disease is caused by variants affecting the gene represented in this entry.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: C2 domain-containing protein 3 |
| geneName | C2CD3 |
| identifier | Q4AC94 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell projection Ciliopathy Cilium biogenesis/degradation Cytoplasm Cytoskeleton Disease variant Intellectual disability Phosphoprotein Proteomics identification Reference proteome Repeat |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | C2CD3 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9002228] ENSEMBL:ENSG00000168014 C2CD3 [Homo sapiens] |
| secondaryIdentifier | C2CD3_HUMAN C9JR55 E2QRD1 Q2NLE1 Q3C1U9 Q6ZU92 Q8IYM4 Q8NB87 Q8NDH7 Q9Y4M2 |
| sequenceLength | 2353 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:220574] UniProt:Q4AC94-2 C2CD3 [Homo sapiens] [ReferenceIsoform:220575] UniProt:Q4AC94-3 C2CD3 [Homo sapiens] [ReferenceIsoform:220576] UniProt:Q4AC94-4 C2CD3 [Homo sapiens] [ReferenceIsoform:384571] UniProt:Q4AC94-5 C2CD3 [Homo sapiens] [ReferenceIsoform:406847] UniProt:Q4AC94-1 C2CD3 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:5620926] C2CD3 [cytosol] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q4AC94 C2CD3 (220573)
