CPS1

carbamoyl-phosphate synthase 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000021826
UniProt:: P31327
OMIM:: 608307
Synonyms:: GATD6

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect 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 phenotype:: increased circulating cholesterol level, preweaning lethality, complete penetrance, increased grip strength, decreased neutrophil cell number, decreased circulating potassium level, increased lymphocyte cell number, increased circulating hdl cholesterol level

Subcellular localization

flagella, mitochondria, nucleus

References: PMID:25613900

Function

CPS1 has localized in flagella.

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