| Gene Symbol |
OFD1
|
| Entrez Gene |
8481
|
| Alt Symbol |
71-7A, CXorf5, JBTS10, RP23, SGBS2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
oral-facial-digital syndrome 1
|
| Other Description |
oral-facial-digital syndrome 1 protein|protein 71-7A
|
| Swissprots |
O75666 O75665 Q4VAK4 B9ZVU5
|
| Accessions |
CCQ43224 EAW98835 EAW98836 EAW98837 EAW98838 EAW98839 EAW98840 EAW98841 O75665 AK225847 AK289677 BAF82366 AK290354 BAF83043 AK297104 BAG59615 AK311067 BC012324 BC030787 BC042830 AAH42830 BC052809 AAH52809 BC062432 AAH62432 BC092448 BC096344 AAH96344 BC096345 AAH96345 BC099658 BC099659 CB134304 GU727634 ADU87636 Y15164 CAA75436 Y16355 CAA76185 XM_005274599 XP_005274656 XM_005274602 XP_005274659 XM_005274603 XP_005274660 XM_005274604 XP_005274661 XM_005274606 XP_005274663 XM_005274607 XP_005274664 XM_011545591 XP_011543893 XM_011545592 XP_011543894 XM_011545593 XP_011543895 XM_011545594 XP_011543896 XM_011545595 XP_011543897 XM_011545596 XP_011543898 XM_011545597 XP_011543899 XM_011545598 XP_011543900 XR_247288 NM_003611 NP_003602
|
| 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 (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Localizes to centriole distal ends and to centriolar satellites. {ECO:0000250}.
|
| Tissue Specificity |
Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb. {ECO:0000269|PubMed:12595504}.
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