SMC1A

structural maintenance of chromosomes 1A

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

Cilia effects upon perturbation of SMC1A

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

Subcellular localization

basal body, cytosol, nucleus

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 dy mic arrays of and ciliary formation (18515072, 16043481).

Model organism evidence

Mus musculus (1 reference)

The Retinitis Pigmentosa GTPase Regulator (RPGR), which is located in the CC, participates in the IFT and interacts with a variety of proteins, including RPGRIP-1, CEP290, NPM, SMC1 and 3 and IFT88.

PMIDs: 21174525