SEPTIN7

septin 7

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000122545
UniProt:: Q16181
OMIM:: 603151
Synonyms:: CDC10, CDC3, SEPT7, SEPT7A, SEPTIN-7

Cilia effects upon perturbation of SEPTIN7

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

Subcellular localization

cilia

References: PMID:41005307, PMID:23572511, PMID:20558667, PMID:20671153

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Actin & cytoskeleton regulation
Reproduction & sperm
Signaling (Hedgehog, GPCRs, ion channels)

Function

Forms a complex with SEPT2 and SEPT9 to positively control ciliogenesis and the length of cilia (23572511). Component of a diffusion barrier at the ciliary base, essential for retaining receptor-signaling pathways in the primary cilium (20558667). Knockdown affects ciliogenesis and disrupts expression of Hedgehog target genes (20671153).

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