MKLN1

muskelin 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000128585
UniProt:
Q9UL63
OMIM:
605623
Synonyms:
TWA2

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

Subcellular localization

cilia

References: PMID:35543155

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

RMND5A and TWA1 are present at the basal body, at the axoneme in primary cilia and motile mono-cilia, and at the centrioles in cycling cells, and other integral components of the GID complex(ARMC8 and MKLN1) are present at the axoneme in primary cilia, suggesting that the GID complex has a function at the primary cilium(35543155).