TBCCD1

TBCC domain containing 1

Ensembl:: ENSG00000113838
UniProt:: Q9NVR7
OMIM:: 619848
Synonyms:: FLJ10560

Cilia effects upon perturbation of TBCCD1

Cilia number / % ciliated:: Decreased cilia number

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.35) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: abnormal skin coloration, impaired glucose tolerance
Mouse ciliopathy phenotype:: female infertility, male infertility

Subcellular localization

basal body, centrosome

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation

Function

Required for centrosome and Golgi apparatus perinuclear positioning. Depletion reduces primary cilia assembly efficiency/ability and affectes cell shape and migration. TBCCD1-silenced cells showed disorganised Golgi apparatus (20168327). Candidate for primary cause of centrosome amplification due to gain of function (32681070).

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