MYCBPAP

MYCBP associated protein

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000136449
UniProt:
Q8TBZ2
OMIM:
609835
Synonyms:
AMAP-1, DKFZP434N1415

Cilia effects upon perturbation of MYCBPAP

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=3.05) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=611, lfc=0.59) PMID:30270045

Ciliopathy associations

  • Male Infertility

References: PMID:39092789

Subcellular localization

cilia, axoneme, central apparatus

References: doi:10.7554/eLife.110601, PMID:32616903

Functional category

  • Ciliary assembly/disassembly

Function

Positive staining for motile ciliated cells was observed in the mouse brain, however, ISH staining of ependymal cells lining the choroid plexus in the chickens was only observed in the cases of EFCAB6, FAM183A and MYCBPAP (32616903). Localizes to the axonemal central lumen as part of the C2a projection of the motile-cilia central apparatus; knockout destabilizes the C2a projection and central-pair microtubules (Lyu et al. 2026, eLife, DOI 10.7554/eLife.110601).