Genomes and Genes
Gene Symbol: Smc1a
Description: structural maintenance of chromosomes 1A
Alias: 5830426I24Rik, SMC-1A, Sb1.8, Smc1, Smc1alpha, Smc1l1, Smcb, mKIAA0178, structural maintenance of chromosomes protein 1A, SMC (segregation of mitotic chromosomes 1)-like 1, SMC protein 1A, SMC-1-alpha, chromosome segregation protein SmcB, segregation of mitotic chromosomes b
- Novel meiosis-specific isoform of mammalian SMC1E Revenkova
Institute for Gene Therapy and Molecular Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
Mol Cell Biol 21:6984-98. 2001..for a unique, basic, DNA binding C-terminal motif-is highly homologous to SMC1 (which may now be called SMC1alpha) and is not present in the yeast genome...
- Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosisJibak Lee
Laboratory of Molecular and Cellular Interactions, Division of Biological Sciences, Graduate School of Science, Hokkaido University, Sapporo 060 0810, Japan
J Cell Sci 116:2781-90. 2003..transition by multisubunit protein complexes called cohesin, which include at least four proteins, SMC1alpha, SMC3, Rad21 and either SA1 or SA2, in mammalian somatic cells...
- Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis II Prieto
Department of Immunology and Oncology, Centro Nacional de Biotecnologia, UAM Campus de Cantoblanco, Madrid E 28049, Spain
Nat Cell Biol 3:761-6. 2001..STAG3 interacts with the structural maintenance chromosome proteins SMC1 and SMC3, which have been reported to be subunits of the mitotic cohesin complex...
- CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of CohesinopathiesGrazia Fazio
Centro Ricerca Tettamanti, Clinica Pediatrica, Universita di Milano Bicocca, Ospedale San Gerardo Fondazione MBBM, Monza, Italy
J Cell Physiol 231:613-22. 2016Genetic variants within components of the cohesin complex (NIPBL, SMC1A, SMC3, RAD21, PDS5, ESCO2, HDAC8) are believed to be responsible for a spectrum of human syndromes known as "cohesinopathies" that includes Cornelia de Lange ..
- The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiationShauna L Houlihan
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States
elife 3:e03297. 2014..These findings suggest that NDE1-mediated heterochromatin replication is indispensible for neuronal differentiation, and that the loss of NDE1 function may lead to genomic neurological disorders. ..
- Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange SyndromeSilvia Remeseiro
Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre CNIO, Melchor Fernandez Almagro 3, 28029 Madrid, Spain
Biochim Biophys Acta 1832:2097-102. 2013..These results provide further support for the idea that developmental defects in CdLS are caused by deregulated transcription and not by malfunction of cohesion-related processes. ..
- The genomic landscape of cohesin-associated chromatin interactionsLaura E Demare
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Genome Res 23:1224-34. 2013..Here we performed chromatin interaction analysis with paired-end tag sequencing (ChIA-PET) of the cohesin subunit SMC1A in developing mouse limb...
- In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseBo Chang
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 15:1847-57. 2006..Our findings suggest a critical function for CEP290 in ciliary transport and provide insights into the mechanism of early-onset photoreceptor degeneration...
- A unique role of cohesin-SA1 in gene regulation and developmentSilvia Remeseiro
Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre CNIO, Madrid, Spain
EMBO J 31:2090-102. 2012Vertebrates have two cohesin complexes that consist of Smc1, Smc3, Rad21/Scc1 and either SA1 or SA2, but their functional specificity is unclear. Mouse embryos lacking SA1 show developmental delay and die before birth...
- Quantitative analysis of cohesin complex stoichiometry and SMC3 modification-dependent protein interactionsChen Ding
Center for Molecular Discovery, Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
J Proteome Res 10:3652-9. 2011..vertebrate cohesin complex consists of four core components including structure maintenance of chromosomes proteins SMC1 and SMC3, RAD21, and SA2/SA1...
- Point mutation at the Nbs1 Threonine 278 site does not affect mouse development, but compromises the Chk2 and Smc1 phosphorylation after DNA damageTangliang Li
Leibniz Institute for Age Research Fritz Lipmann Institute, Jena, Germany
Mech Ageing Dev 132:382-8. 2011..MEFs reveals no obvious defects in the Chk2 phosphorylation at 1Gy, but a delayed phosphorylation of Chk2 and Smc1 only at intermediate (4.5Gy) and high (10Gy) doses, respectively...
- Artemis and nonhomologous end joining-independent influence of DNA-dependent protein kinase catalytic subunit on chromosome stabilityTravis H Stracker
Molecular Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center and Cornell University Graduate School of Medical Sciences, New York, NY 10065, USA
Mol Cell Biol 29:503-14. 2009..Our results reveal a role for DNA-PKcs in the maintenance of S/G(2)-phase chromosome stability and in the induction of cell cycle checkpoint responses...
- Identification and molecular characterization of the mammalian α-kleisin RAD21LCristina Gutiérrez-Caballero
Instituto de Biología Molecular y Celular del Cáncer CSIC USAL, Madrid, Spain
Cell Cycle 10:1477-87. 2011..RAD21L interacts with other cohesin subunits such as SMC1α, SMC1b, SMC3 and with the meiosis-specific STAG3 protein...
- RAD21L, a novel cohesin subunit implicated in linking homologous chromosomes in mammalian meiosisJibak Lee
Chromosome Dynamics Laboratory, RIKEN Advanced Science Institute, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
J Cell Biol 192:263-76. 2011..RAD21L associates with SMC3, STAG3, and either SMC1α or SMC1β...
- A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesionAlexander Kurze
Department of Biochemistry, University of Oxford, Oxford, UK
EMBO J 30:364-78. 2011Cohesin's structural maintenance of chromosome 1 (Smc1) and Smc3 are rod-shaped proteins with 50-nm long intra-molecular coiled-coil arms with a heterodimerization domain at one end and an ABC-like nucleotide-binding domain (NBD) at the ..
- The ATM cofactor ATMIN protects against oxidative stress and accumulation of DNA damage in the aging brainNnennaya Kanu
Mammalian Genetics Lab, Cancer Research UK, London Research Institute, 44 Lincoln s Inn Fields, London WC2A 3Y, United Kingdom
J Biol Chem 285:38534-42. 2010..These results suggest that ATMIN mediates ATM activation by oxidative stress, and thereby ATMIN protects the aging brain by preventing accumulation of DNA damage...
- Mediator and cohesin connect gene expression and chromatin architectureMichael H Kagey
Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA
Nature 467:430-5. 2010..Mediator and cohesin co-occupy different promoters in different cells, thus generating cell-type-specific DNA loops linked to the gene expression program of each cell...
- ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brainKristin D Kernohan
Department of Paediatrics, 800 Commissioners Road East, London, ON N6C 2V5, Canada
Dev Cell 18:191-202. 2010..We propose that ATRX, cohesin, and MeCP2 cooperate to silence a subset of imprinted genes in the postnatal mouse brain...
- The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivationR Sultana
Department of Pathology, University of Washington, Seattle 98195, USA
Hum Mol Genet 4:257-63. 1995..spretus X chromosome is inactivated. The Sb1.8 gene is a new member of a group of genes that escape X inactivation in human, but are inactivated in mouse...
- Cohesin protein SMC1 is a centrosomal proteinJikui Guan
Department of Cell and Molecular Biology, Karolinska Institute, Berzelius vag 35, SE 171 77 Stockholm, Sweden
Biochem Biophys Res Commun 372:761-4. 2008Structural maintenance of chromosome protein 1 (SMC1) is well known for its roles in sister chromatid cohesion and DNA repair...
- SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivationMarnie E Blewitt
The Division of Molecular Medicine, Walter and Eliza Hall Institute of Medical Research, Melbourne, and The Department of Medical Biology, The University of Melbourne, VIC 3050, Australia
Nat Genet 40:663-9. 2008..This finding links a group of proteins normally associated with structural aspects of chromosome biology with epigenetic gene silencing...
- Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulatorsWilliam Stedman
Gene Regulation Program, The Wistar Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
EMBO J 27:654-66. 2008..RAD21 and SMC1 also associate with the cellular CTCF sites at mammalian c-myc promoter and H19/Igf2 imprinting control region...
- The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: implications for the Mre11 complex as a DNA damage sensorMonica Morales
Molecular Biology Program, Memorial Sloan Kettering Cancer Center and Cornell University Graduate School of Medical Sciences, New York, New York 10021, USA
Genes Dev 19:3043-54. 2005....
- Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathwayRisa Kitagawa
Department of Hematology Oncology, St Jude Children s Research Hospital, Memphis, Tennessee 38018, USA
Genes Dev 18:1423-38. 2004..sites of DNA breaks after ionizing irradiation, and that this recruitment is required for the phosphorylation of SMC1 by ATM...
- Differential association of SMC1alpha and SMC3 proteins with meiotic chromosomes in wild-type and SPO11-deficient male miceRosalina D James
Department of Pathology, University of Washington, Seattle, WA 98195, USA
Chromosome Res 10:549-60. 2002SMC proteins are components of cohesin complexes that function in chromosome cohesion. We determined that SMC1alpha and SMC3 localized to wild-type mouse meiotic chromosomes, but with distinct differences in their patterns...
- Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and humanK D Tsuchiya
Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, Ohio 44106 4955, USA
Mamm Genome 11:849-54. 2000..Possible mechanisms responsible for the differing inactivation status between genes in the escape domain in human Xp11. 21-p11.22 and the corresponding mouse region are discussed...
- Characterization of the components of the putative mammalian sister chromatid cohesion complexN Darwiche
Unit of Chromosome Structure and Function, NIH, NICHD, Laboratory of Molecular Embryology, 18T Library Drive, Room 106, Bethesda, MD 20892 5430, USA
Gene 233:39-47. 1999..Overexpression of a PW29-GFP fusion protein in mouse fibroblasts leads to inhibition of proliferation, implicating this protein and its complex with SMC proteins in the control of mitotic cycle progression...