EMC6

ER membrane protein complex subunit 6

Ensembl:
ENSG00000127774
UniProt:
Q9BV81
OMIM:
620261
Synonyms:
MGC2963, RAB5IFL, TMEM93

Cilia effects upon perturbation of EMC6

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

Ciliogenesis screen results (1 screen)

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

Phenotypes

Mouse phenotype:
embryonic lethality prior to tooth bud stage, embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, increased hematocrit

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cilia length regulation

Function

In addition to monitoring the synthesis of rhodopsin-domi ted membrane disc proteins, EMC6 also impacted rod photoreceptors' ciliogenesis by regulating the synthesis of membrane proteins associated with cilia, contributing to the mislocalization of membrane disc proteins (37692493). EMC6 localized to basal body (25613900). Cilia length of RKO mice became significantly shorter compared with WT mice.