IFT74

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome.

Full Name

intraflagellar transport 74 homolog (Chlamydomonas)

Function

Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis.

Biological Process

Cilium assembly Source: UniProtKB
Determination of left/right symmetry Source: Ensembl
Heart development Source: Ensembl
Intraciliary transport involved in cilium assembly Source: UniProtKB
Keratinocyte development Source: Ensembl
Negative regulation of epithelial cell proliferation Source: Ensembl
Non-motile cilium assembly Source: Ensembl
Notch signaling pathway Source: Ensembl
Positive regulation of cell adhesion mediated by integrin Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl

Cellular Location

Cilium; Cytoplasmic vesicle. Localizes along primary cilia at interphase and around the basal body/centriole at interphase and mitosis.

Involvement in disease

Bardet-Biedl syndrome 20 (BBS20):
A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.