TBC1D30

TBC1 domain family member 30

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000111490
UniProt:: Q9Y2I9
OMIM:: 615077
Synonyms:: KIAA0984

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: hyperactivity, increased circulating calcium level, increased exploration in new environment, decreased thigmotaxis, abnormal behavior, abnormal coat/ hair morphology

Subcellular localization

cilia

References: PMID:17646400

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

PMID:17646400 involved in membrane trafficking, necessary for ciliogenesis (17646400). GAP protein that regulates activity of specific Rab GTPases including RAB3A22 and RAB8A (23263489).

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