FAM149B1
family with sequence similarity 149 member B1
- Ensembl:
- ENSG00000138286
- UniProt:
- Q96BN6
- OMIM:
- 618413
- Synonyms:
- KIAA0974
Cilia effects upon perturbation of FAM149B1
- Cilia number / % ciliated:
- No effect
- Loss-of-function effect:
- Longer cilia
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.35) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse ciliopathy phenotype:
- male infertility
- Human ciliopathy phenotype:
- Joubert syndrome 36
Ciliopathy associations
- Joubert Syndrome
- Skeletal Ciliopathy
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
Function
Required for normal ciliary biology and that its deficiency results in impaired ciliary structure and a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome.
Model organism evidence
Mus musculus (1 reference)
BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
PMIDs: 35609210
C. elegans (1 reference)
xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology.
PMIDs: 34731674