structural maintenance of chromosome 1-like 1 protein; SMC1-alpha protein (SMC1A, Sb1.8, SMC1L1, DXS423E, KIAA0178, SB18, SMC1)

Function

• involved in chromosome cohesion during cell cycle & DNA repair
• component of cohesin complex
  • forms a heterodimer with SMC3 in cohesin complexes
• involved in DNA repair via its interaction with BRCA1, phosphorylation by ATM, or phosphorylation by ATR
• works as a downstream effector both in the ATM/NBS1 branch & in the ATR/MSH2 branch of S-phase checkpoint
• interacts with POLE
• interacts with SYCP2
• interacts with BRCA1
• found in a complex with CDCA5, SMC3L1, RAD21, PDS5A/APRIN & PDS5B/SCC-112 (putative)
• interacts with BRCA, KNTC2

Compartment

• nucleus, associates with chromatin
• before prophase, it is scattered along chromosome arms

Pathology

• defects in SMC1L1 are the cause of X-linked Cornelia de Lange syndrome

More general terms

• phosphoprotein
• nuclear protein

Component of

• cohesion complex

Database

• OMIM: https://mirror.omim.org/entry/300040
• UniProt: http://www.uniprot.org/uniprot/Q14683.html