Table 3 Cilia and BBS

From: Cilium-generated signaling and cilia-related disorders

Gene

Protein property/function

Location

  

Mammals

Worm/fly

Chlamydomonas

BBS1

Unknown function

Null mutant mice: no olfactory cilia but normal respiratory and renal cilia

Basal body and cilia in worm

C_1020033

BBS2

Unknown function

No information

Basal body and cilia in worm

C_200109

BBS3

Small G-protein

No information

Basal body and cilia in worm

C_970056

 

Transport along ciliary axoneme

   

BBS4

Target/anchor pericentriolar protein PCM1

Basal body and centrosomes

No information

C_70158

  

Loss results in disorganized microtubules, mislocalization of centriolar proteins, failure of cell division

  
  

Null mutant mice: no olfactory cilia but normal respiratory and renal cilia

  

BBS5

Generation of cilia and flagella

Basal body

Basal body in worm

C_270058

    

RNAi knockdown cells aflagellate

BBS6

Putative chaperonin

No information

No information

Not found

   

Basal body and cilia in worm

 

BBS7

Bidirectional movement along ciliary axoneme

Basal body

Compromised IFT, shortened cilia in worm mutant

C_1330001

BBS8

505aa; TPR domain

Centrosome, Basal body, cilia (retina, olfactory neurons, spermatids, bronchial epithelial cells)

Basal body and cilia in worm

C_970071

 

Associates with PCM1

 

Loss of BBS8 protein in worm results in compromised IFT, shortened cilia

 
 

Bidirectional movement along ciliary axoneme