B9D1

B9 domain containing 1

Ensembl:
ENSG00000108641
UniProt:
Q9UPM9
OMIM:
614144
Synonyms:
B9, EPPB9, MKS9, MKSR-1

Cilia effects upon perturbation of B9D1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.87) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.37) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=14, lfc=-5.03) PMID:30270045

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, abnormal response to tactile stimuli, abnormal startle reflex
Human ciliopathy phenotype:
Joubert syndrome; Meckel syndrome; Meckel syndrome, type 9

Ciliopathy associations

  • Joubert Syndrome
  • Meckel-Gruber Syndrome

Subcellular localization

basal body, centrosome, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Transition zone

Function

Mutated in Meckel-Gruber syndrome (type 9) (OMIM 614144) although mutations only found in 1 family (PMID:21493627). Interacts with B9D2 and MKS1 at the transition zone (PMID:22179047). B9d1 mutants exhibited normal node morphology, but lacked almost all nodal cilia, the few cilia that did form were short and displayed swollen tips(PMID: 21763481).

Model organism evidence

Xenopus (3 references)

Mechanisms of cilia regeneration in Xenopus multiciliated epithelium in vivo.

Blocking TGF-β signaling resulted in the absence of the transition zone protein B9D1/MSKR-1 from cilia in multi-ciliated cells (MCCs) of the epidermis.

PMIDs: 40087471, 37398226, 25959824