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

Function: 1) involved in chromosome cohesion during cell cycle & DNA repair 2) component of cohesin complex - forms a heterodimer with SMC3 in cohesin complexes 3) involved in DNA repair via its interaction with BRCA1, phosphorylation by ATM, or phosphorylation by ATR 4) works as a downstream effector both in the ATM/NBS1 branch & in the ATR/MSH2 branch of S-phase checkpoint 5) interacts with POLE 6) interacts with SYCP2 7) interacts with BRCA1 8) found in a complex with CDCA5, SMC3L1, RAD21, PDS5A/APRIN & PDS5B/SCC-112 (putative) 9) 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

General

nuclear protein phosphoprotein

Properties

SIZE: MW = 143 kD entity length = 1233 aa COMPARTMENT: cell nucleus MOTIF: ATP-binding site NAME: ATP-binding site SITE: 32-39 coiled coil {104-124} coiled coil {163-503} MOTIF: Ser phosphorylation site {S360} coiled coil {660-935} Ser phosphorylation site {S957} Ser phosphorylation site {S962} Ser phosphorylation site {S966} coiled coil {991-1068}

Database Correlations

OMIM 300040 UniProt Q14683 PFAM correlations

References

UniProt :accession Q14683