GJA1

gap junction protein alpha 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000152661
UniProt:
P17302
OMIM:
121014
Synonyms:
CX43, GJAL, ODD, ODDD, ODOD, SDTY3

Cilia effects upon perturbation of GJA1

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal spleen morphology, abnormal embryo size, abnormal head size, no spontaneous movement, abnormal bone structure, edema, abnormal skin morphology

Subcellular localization

basal body, cilia, cytosol, microtubules

References: PMID:32312952, PMID:36004726

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Viral interactions
  • Protein processing & maturation
  • Cell migration & adhesion
  • Cardiac & muscle development
  • Muscle contraction & physiology

Function

GJA1 also regulates the maintenance of cilia (32312952) and GJA1 regulates ciliogenesis by affecting ciliary trafficking and thereby promoting uncapping of the mother centriole. GJA1 contributes to proper ciliogenesis by regulating Rab11 trafficking to basal bodies and facilitating ciliary axoneme formation and assembly(36004726). GJA1 depletion caused malformation of both the primary cilium and motile cilia. (36004726)