IFT20

This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgibody, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.

Full Name

Intraflagellar Transport 20

Function

Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004).

Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719).

Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity).

Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity).

Biological Process

Cardiac muscle cell differentiation Source: Ensembl
Centrosome localization Source: GO_Central
Cilium assembly Source: UniProtKB
Cochlea development Source: Ensembl
Establishment of epithelial cell apical/basal polarity Source: Ensembl
Establishment of planar polarity Source: Ensembl
Inner ear receptor cell stereocilium organization Source: Ensembl
Intraciliary transport Source: GO_Central
Kidney development Source: Ensembl
Neural precursor cell proliferation Source: Ensembl
Opsin transport Source: Ensembl
Photoreceptor cell outer segment organization Source: Ensembl
Protein localization to ciliary membrane Source: Ensembl
Protein localization to cilium Source: GO_Central
Protein localization to Golgi apparatus Source: MGI
Protein localization to plasma membrane Source: Ensembl
Regulation of autophagosome assembly Source: UniProtKB
Regulation of canonical Wnt signaling pathway Source: Ensembl
Regulation of cilium assembly Source: UniProtKB
Regulation of platelet-derived growth factor receptor-alpha signaling pathway Source: UniProtKB
Smoothened signaling pathway Source: Ensembl
Spermatogenesis Source: UniProtKB
Visual learning Source: Ensembl

Cellular Location

Cis-Golgi network; Golgi apparatus; Centriole; Cilium basal body; Cytoskeleton; Cilium; Acrosome. Present at the centrosomes during the cell cycle and associated with the proximal portion of the mother centriole and the lateral aspect of the daughter centriole. Associated with basal body at the base of primary cilia. Detected in the Golgi apparatus of round spermatids and late spermatocytes. Also detected in the manchette of step 10-12 spermatids. In step 14 spermatids, found in the basal body of the sperm tail.