SMC1A

structural maintenance of chromosomes 1A

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000072501
UniProt:
Q14683
OMIM:
300040
Synonyms:
DXS423E, KIAA0178, SB1.8, SMC1L1, SMCB

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Ciliopathy associations

  • Cornelia de Lange Syndrome
  • Holoprosencephaly

References: PMID:16604071, PMID:17273969, PMID:25209348, PMID:31334757

Subcellular localization

basal body, cytosol, nucleus

References: PMID:18515072, PMID:16043481

Functional category

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

Function

SMC1 is a centrosomal protein, suggesting possible involvement of SMC1 in centrosome/basal body-related functions, such as organization of dynamic arrays of and ciliary formation (18515072, 16043481).