DZIP1

DAZ interacting zinc finger protein 1

Ensembl:
ENSG00000134874
UniProt:
Q86YF9
OMIM:
608671
Synonyms:
DZIP, KIAA0996

Cilia effects upon perturbation of DZIP1

Loss-of-function effect:
Shorter cilia

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]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.83, ciliated=16.0%) PMID:26595381

Subcellular localization

basal body, nucleus, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Transition zone
  • Cilia length regulation

Function

Mediates membrane/basal- body interactions, functions in basal-body maturation and transition zone organisation. Required to recruit Fam92 and Cby at the basal body distal end, allowing proper transition zone assembly, both DZIP and FARM92 control the distal elongation of basal bodies and docking to the plasma membrane (31821146, 32491167). Mediates the assembly of the BBSome-Dzip1-PCM1 complex in the centriolar satellites for ciliary translocation of the BBSome (27979967). Necessary for recruiting IFT machinery to the distal appendages of the mother centrioles and for bridging IFT88 to the cargo that contains GLI3. Positive regulator of Shh (23955340). Together with GSK3尾 and Rab8, DZIP1 co- regulates ciliogenesis by promoting ciliary membrane assembly (25860027). Dzip1 conditional knockout and mutant mitral valves were previously shown to have reduced cilia length.

Model organism evidence

C. elegans (1 reference)

The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.

PMIDs: 38634253

Drosophila (3 references)

Mechanistically, the N-terminus of CEP290 directly recruits DAZ interacting zinc finger protein 1 (DZIP1), which then recruits Chibby (CBY) and Rab8 to promote early ciliary membrane formation.

Role of DZIP1-CBY-FAM92 transition zone complex in the basal body to membrane attachment and ciliary budding.

PMIDs: 33370260, 32491167, 31821146