TUBE1

tubulin epsilon 1

Ensembl:: ENSG00000074935
UniProt:: Q9UJT0
OMIM:: 607345
Synonyms:: DJ142L7.2, FLJ22589, TUBE

Cilia effects upon perturbation of TUBE1

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.39) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.95) PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: decreased exploration in new environment, decreased thigmotaxis, preweaning lethality, complete penetrance, abnormal behavior, abnormal optic disk morphology, decreased anxiety-related response
Mouse ciliopathy phenotype:: persistence of hyaloid vascular system, abnormal reti blood vessel morphology, abnormal reti morphology, abnormal reti vasculature morphology

Subcellular localization

basal body, centrosome

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation

Function

Interacts with delta-tubulin to form the triplet or to stabilize them against depolymerization (28906251). Function in the centriole lumen and on the cytoplasmic side is essential for the centriole-to- centrosome conversion. Depletion of TUBE1 affects biogenesis and reduces CEP44 recruitment to centrioles (11148142).

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