ERC1

ELKS/RAB6-interacting/CAST family member 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000082805
UniProt:: Q8IUD2
OMIM:: 607127
Synonyms:: CAST2, ELKS, KIAA1081, MGC12974, RAB6IP2

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: increased circulating phosphate level, decreased circulating glucose level, preweaning lethality, complete penetrance, abnormal eye anterior chamber depth, decreased circulating alkaline phosphatase level, embryonic lethality prior to tooth bud stage

Subcellular localization

basal body, cytosol

References: PMID:27224062

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Actin & cytoskeleton regulation
Transcription regulation

Function

ERC1 expression was retained at the basal body of ciliated cells, and CEP131 localized to the centriolar satellites (27224062).

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