TAPT1

transmembrane anterior posterior transformation 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000169762
UniProt:: Q6NXT6
OMIM:: 612758
Synonyms:: FLJ90013

Cilia effects upon perturbation of TAPT1

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.55) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

Complex Lethal Osteochondrodysplasia

References: PMID:26365339

Subcellular localization

basal body

References: PMID:41005307

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
ECM & connective tissue

Function

Regulates intracellular protein trafficking and organisation of cellular organelles, it could also play a role in ciliary assembly and signaling. Defective TAPT1 mislocalises to the cytoplasm, disrupts Golgi morphology, trafficking and normal ciliogenesis. Knockdown of tapt1b in zebrafish induces severe malformations of the craniofacial skeleton (26365339).

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