Enables DNA binding activity. Involved in chromosome segregation; embryo development; and response to radiation. Located in nucleus. Part of chromatin and cohesin complex. Expressed in linker cell. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2; congestive heart failure; and developmental and epileptic encephalopathy 85. Is an ortholog of human SMC1B (structural maintenance of chromosomes 1B).
SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Predicted to enable ATP binding activity and ATP hydrolysis activity. Involved in mitotic sister chromatid segregation and positive regulation of nematode male tail tip morphogenesis. Located in chromosome, centromeric region and condensed chromosome. Expressed in head; linker cell; and tail. Is an ortholog of human SMC4 (structural maintenance of chromosomes 4).
Predicted to enable DNA binding activity. Involved in embryo development; regulation of sister chromatid cohesion; and sister chromatid cohesion. Located in nucleus. Human ortholog(s) of this gene implicated in advanced sleep phase syndrome. Is an ortholog of human TIMELESS (timeless circadian regulator).
Involved in mitotic sister chromatid segregation. Predicted to be located in nucleus. Predicted to be part of condensin complex. Is an ortholog of human NCAPG2 (non-SMC condensin II complex subunit G2).
Predicted to enable chromatin binding activity. Involved in mitotic sister chromatid segregation. Predicted to be located in nucleus. Predicted to be part of condensin complex. Is an ortholog of human NCAPH2 (non-SMC condensin II complex subunit H2).
Predicted to enable chromatin binding activity and damaged DNA binding activity. Involved in double-strand break repair and organelle organization. Located in nuclear lumen and spindle. Part of chromatin. Expressed in Z2; Z3; embryonic cell; and gonad.
Is predicted to encode a protein with the following domains: P-loop containing nucleoside triphosphate hydrolase; RecF/RecN/SMC N terminal domain; and RecF/RecN/SMC, N-terminal. Is an ortholog of C. elegans smcl-1.
Is predicted to encode a protein with the following domains: P-loop containing nucleoside triphosphate hydrolase; RecF/RecN/SMC N terminal domain; and RecF/RecN/SMC, N-terminal. Is an ortholog of C. elegans smc-3.