Recombinant Human Oral-facial-digital syndrome 1 protein (OFD1), Truncated

Uniprot Id

O75665

Target Species

Human

Target Name

OFD1

Target Full Name

Centriole and centriolar satellite protein OFD1

Target 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.

Target Involvement

Orofaciodigital syndrome 1 (OFD1); Simpson-Golabi-Behmel syndrome 2 (SGBS2); Joubert syndrome 10 (JBTS10); Retinitis pigmentosa 23 (RP23)

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Target Protein Families

OFD1 family

Target 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.

Target Synonyms

71 7A; 717A; CXorf5; JBTS10; Ofd1; OFD1_HUMAN; oral facial digital syndrome 1; Oral-facial-digital syndrome 1 protein; OTTHUMP00000022941; Protein 71-7A; RGD1562231; SGBS2

Target Background

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome.