AKAP4

A-kinase anchoring protein 4

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000147081
UniProt:
Q5JQC9
OMIM:
300185
Synonyms:
AKAP82, CT99, FSC1, HAKAP82, HI, P82

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • 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]: Hyper-ciliogenesis (robust z=3.38, ciliated=63.5%) PMID:26595381

Ciliopathy associations

  • Male Infertility

References: PMID:37670815

Subcellular localization

flagella, nucleus

References: Human Protein Atlas, PMID:15257753, PMID:11229805

Functional category

  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

AKAP4 binds AKAP3 and expression of AKAP3 is reduced in AKAP4 knockout sperm, AND AKAP3 and AKAP4 localized correctly to the fibrous sheath of the amorphous flagellum in Dysplasia of the fibrous sheath (DFS) sperm (11229805).