| Gene Symbol |
Ofd1
|
| Entrez Gene |
237222
|
| Alt Symbol |
Cxorf5, DXGgc7e, ORF2
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
oral-facial-digital syndrome 1 gene homolog (human)
|
| Other Description |
oral-facial-digital syndrome 1 protein homolog
|
| Swissprots |
Q80Z25
|
| Accessions |
EDL40732 Q80Z25 AJ278702 CAC34795 AJ438159 CAD27225 AK141310 BAE24645 BB652746 BC119070 AAI19071 BC120487 AAI20488 XM_006528839 XP_006528902 NM_177429 NP_803178
|
| Function |
Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation. {ECO:0000269|PubMed:18084282, ECO:0000269|PubMed:20230748}.
|
| Subcellular Location |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body. Nucleus {ECO:0000250}. Note=Localizes to centriole distal ends and to centriolar satellites.
|
