SPG11

SPG11 vesicle trafficking associated, spatacsin

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000104133
UniProt:: Q96JI7
OMIM:: 610844
Synonyms:: ALS5, FLJ21439, KIAA1840

Ciliogenesis screen results (1 screens)

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

Phenotypes

Mouse phenotype:: increased leukocyte cell number, decreased exploration in new environment, increased startle reflex, increased total body fat amount, prolonged rr interval, decreased circulating total protein level, decreased heart rate

Subcellular localization

cilia, microtubules, nucleus

References: PMID:38100419

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Actin & cytoskeleton regulation
Cardiac & muscle development

Function

Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419).

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