CEP131

centrosomal protein 131

Ensembl:
ENSG00000141577
UniProt:
Q9UPN4
OMIM:
613479
Synonyms:
AZ1, AZI1, KIAA1118

Cilia effects upon perturbation of CEP131

Ciliogenesis screen results (1 screen)

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

Subcellular localization

basal body, centrosome, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Protein processing & maturation
  • Cell migration & adhesion
  • Transition zone

Function

Contributor to ciliogenesis in certain tissues in the developing vertebrate embryo, involved in assembling the cilium and in determi tion of the length of the axoneme (19254375). The Atoh1- Cep131-CS integrity axis would act as a gatekeeper during GNPs’ ciliogenesis, as it would provide cells an essential machinery (i.e., the CS) for building the primary cilia (PMID: 30695697).

Model organism evidence

Mus musculus (2 references)

The absence of the CC domains 5-7 in mutant spermatids destabilizes PCM1, which fails to recruit satellite components such as Bardet-Biedl syndrome 4 (BBS4) and centrosomal protein of 131 kDa (CEP131) to satellites, resulting in defective sperm flagellum biogenesis, as BBS4 and CEP131 are essenti

However, the mechanism by which the CP is upheld above the transition zone (TZ) remains unclear.

PMIDs: 40801568, 39165107

Drosophila (1 reference)

Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation.

PMIDs: 38442096