SEPTIN7

septin 7

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

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-sig ling pathways in the primary cilium (20558667). Knockdown affects ciliogenesis and disrupts expression of Hedgehog target genes (20671153).

Model organism evidence

C. elegans (1 reference)

Primary cilia rely on compartmentalisation mechanisms that establish the organelle's protein and lipid composition.

PMIDs: 41279625

Mus musculus (1 reference)

Proteomic analysis and immunolocalization disclosed that MSAP is associated with septin7, a conserved GTPase that may participate in cellular morphogenesis, in the basal body of carp sperm.

PMIDs: 15215198