TOGARAM1
TOG array regulator of axonemal 1
- Ensembl:
- ENSG00000198718
- UniProt:
- Q9Y4F4
- OMIM:
- 617618
- Synonyms:
- CRESCERIN, CRESCERIN-1, FAM179B, KIAA0423
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
- Mouse ciliopathy phenotype:
- microphthalmia, polydactyly
- Human ciliopathy phenotype:
- Joubert syndrome 37; Joubert syndrome
Ciliopathy associations
- Joubert Syndrome
- Neural tube defects with ciliary dysfunction
Subcellular localization
basal body, cilia
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-termi l 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).
Model organism evidence
Defects in cilia structure and function result in a broad range of developmental and sensory disorders.
CHE-12 and DYF-11 are conserved ciliary proteins that function cell-autonomously and are continuously required for maintenance of cilium morphology and function.