GJA1

gap junction protein alpha 1

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

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
Mouse ciliopathy phenotype:
abnormal facial morphology, abnormal head shape

Subcellular localization

basal body, cilia, cytosol, microtubules

Functional category

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

Function

GJA1 also regulates the mainte nce 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)

Model organism evidence

Xenopus (1 reference)

A recent study showed that GJA1 is necessary for the maintenance of motile cilia; however, the molecular mechanism and function of GJA1 in ciliogenesis remain unknown.

PMIDs: 36004726