FAM149B1

family with sequence similarity 149 member B1

Tier: Gold Standard Ciliary Genes

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

Human ciliopathy phenotype:: Joubert syndrome 36

Ciliopathy associations

Joubert Syndrome
Skeletal Ciliopathy

References: PMID:30905400, PMID:34828254

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:30905400

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.

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