MCRS1

microspherule protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000187778
UniProt:: Q96EZ8
OMIM:: 609504
Synonyms:: ICP22BP, INO80Q, MCRS2, MSP58, P78

Cilia effects upon perturbation of MCRS1

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

Ciliogenesis screen results (4 screens)

Kim2016: No effect
Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.63) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.80, ciliated=16.2%) PMID:26595381

Phenotypes

Mouse phenotype:: increased circulating chloride level, preweaning lethality, complete penetrance, embryonic lethality prior to organogenesis

Subcellular localization

basal body, cilia, nucleus

References: PMID:37771269, PMID:27263857

Functional category

Ciliary assembly/disassembly

Function

Required for dynein- dependent cargo transport to the centrosome. Interacts with the dynein intermediate chain DYNC1I1, and plays an essential role in both the establishment of centriolar satellites and the initiation of primary cilium assembly. MCRS1 also mediates centriolar recruitment of TTBK2 (27263857).

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