TOGARAM1

Cilia effects upon perturbation of TOGARAM1

Loss-of-function effect:

Shorter cilia

Phenotypes

Mouse phenotype:

abnormal craniofacial morphology, hemorrhage, abnormal limb bud morphology, pretal lethality prior to heart atrial septation, facial cleft, abnormal forebrain morphology, anophthalmia, preweaning lethality, complete penetrance

Human ciliopathy phenotype:

Joubert syndrome 37; Joubert syndrome

Ciliopathy associations

• Joubert Syndrome
• Neural tube defects with ciliary dysfunction

References: PMID:32453716, PMID:39385469

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:32453716, PMID:32747439, PMID:30217954

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Mutated in JBTS37. TOGARAM1 localized along the ciliary axoneme in hTERT-RPE1 cells and was associated with longer cilia when knocked down. Binds directly to ARMC9, forming a protein module that localizes to microtubule-like structures at the centriole and proximal portion of the cilium. The interaction with ARMC9 mapped to the N-terminal protein of TOGARAM1 (32453716, 32747439).The length of cilia was normal in the FAP256-KO, reduced (by 16%) in CHE12-KO and increased (by 14%) in ARMC9-KO cells (PMID: 30217954).