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- Table of Contents
Facts about Oral-facial-digital syndrome 1 protein.
Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells necessary to transduce signals important for development and tissue homeostasis.
Human | |
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Gene Name: | OFD1 |
Uniprot: | O75665 |
Entrez: | 8481 |
Belongs to: |
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OFD1 family |
JBTS10; MGC117039; oral-facial-digital syndrome 1; SGBS2
Mass (kDA):
116.671 kDA
Human | |
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Location: | Xp22.2 |
Sequence: | X; NC_000023.11 (13734713..13773978) |
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.
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Localizes to centriole distal ends and to centriolar satellites (PubMed:20230748, PubMed:24121310). Localization to centrioles and pericentriolar satellites may be mediated by KIAA0753/OFIP (PubMed:26643951).
PMID: 9722947 by de Conciliis L., et al. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
PMID: 12595504 by Romio L., et al. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.