Smc1a

Summary

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
Species: mouse

Top Publications

  1. pmc Novel meiosis-specific isoform of mammalian SMC1
    E 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
  2. ncbi Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis
    Jibak 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
  3. ncbi Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I
    I 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
  4. doi CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies
    Grazia Fazio
    Centro Ricerca Tettamanti, Clinica Pediatrica, Universita di Milano Bicocca, Ospedale San Gerardo Fondazione MBBM, Monza, Italy
    J Cell Physiol 231:613-22. 2016
  5. pmc The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation
    Shauna L Houlihan
    Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States
    elife 3:e03297. 2014
  6. pmc Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome
    Silvia 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
  7. pmc The genomic landscape of cohesin-associated chromatin interactions
    Laura E Demare
    Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Genome Res 23:1224-34. 2013
  8. pmc 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 mouse
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 15:1847-57. 2006
  9. pmc A unique role of cohesin-SA1 in gene regulation and development
    Silvia Remeseiro
    Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    EMBO J 31:2090-102. 2012
  10. pmc Quantitative analysis of cohesin complex stoichiometry and SMC3 modification-dependent protein interactions
    Chen 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

Scientific Experts

  • Jibak Lee
  • Silvia Remeseiro
  • Grazia Fazio
  • Shauna L Houlihan
  • Laura E Demare
  • Ana Cuadrado
  • Ana Losada
  • Risa Kitagawa
  • Tangliang Li
  • Chen Ding
  • Alexander Kurze
  • Cristina Gutiérrez-Caballero
  • Nnennaya Kanu
  • Kristin D Kernohan
  • Michael H Kagey
  • Travis H Stracker
  • William Stedman
  • Jikui Guan
  • Marnie E Blewitt
  • John H J Petrini
  • Bo Chang
  • Monica Morales
  • Michael B Kastan
  • Franco Cotelli
  • Carles Gaston-Massuet
  • Anna Cereda
  • Anna Pistocchi
  • Federica Graziola
  • Gianni Cazzaniga
  • Gianfranco Bellipanni
  • Luca Ferrari
  • Valentina Massa
  • Mara Mazzola
  • Valeria Scagliotti
  • Andrea Biondi
  • Laura Rachele Bettini
  • Angelo Selicorni
  • Antonio Giordano
  • Yuanyi Feng
  • Rosalina D James
  • James P Noonan
  • Shimako Kawauchi
  • Steven K Reilly
  • Jun Yin
  • Arthur D Lander
  • Justin Cotney
  • Jing Leng
  • Richard Sarro
  • Anne L Calof
  • Gonzalo Gomez-Lopez
  • I Prieto
  • David G Pisano
  • E Revenkova
  • Sarah E Dixon
  • Kim Nasmyth
  • Jun Qin
  • Yi Wang
  • Yehua Li
  • Yurema Herrán
  • Elena Llano
  • Anna Malovannaya
  • Jan Lowe
  • Ajay Mishra
  • Beom Jun Kim
  • Alberto M Pendas
  • Manuel Sanchez-Martin
  • Zhao Qi Wang
  • Lana Strmecki
  • Katsuhiko Shirahige
  • Syma Khalid
  • Jose Luis Barbero
  • José Angel Suja
  • Christian H Haering
  • Katharine A Michie
  • Sung Yun Jung
  • Takehiko Itoh
  • James H Eubanks
  • Elaine Irvine
  • Steve Bilodeau
  • Barnaby Wong
  • David A Orlando
  • Gennadij Raivich
  • Mellissa R W Mann
  • Stuart S Levine
  • Jesse Goossens
  • Peter B Rahl
  • Kay Penicud
  • Deanna C Tremblay
  • Ye Zhan
  • Yan Jiang

Detail Information

Publications27

  1. pmc Novel meiosis-specific isoform of mammalian SMC1
    E 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...
  2. ncbi Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis
    Jibak 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...
  3. ncbi Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I
    I 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...
  4. doi CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies
    Grazia Fazio
    Centro Ricerca Tettamanti, Clinica Pediatrica, Universita di Milano Bicocca, Ospedale San Gerardo Fondazione MBBM, Monza, Italy
    J Cell Physiol 231:613-22. 2016
    Genetic 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 ..
  5. pmc The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation
    Shauna 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. ..
  6. pmc Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome
    Silvia 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. ..
  7. pmc The genomic landscape of cohesin-associated chromatin interactions
    Laura 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...
  8. pmc 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 mouse
    Bo 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...
  9. pmc A unique role of cohesin-SA1 in gene regulation and development
    Silvia Remeseiro
    Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    EMBO J 31:2090-102. 2012
    Vertebrates 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...
  10. pmc Quantitative analysis of cohesin complex stoichiometry and SMC3 modification-dependent protein interactions
    Chen 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...
  11. doi Point mutation at the Nbs1 Threonine 278 site does not affect mouse development, but compromises the Chk2 and Smc1 phosphorylation after DNA damage
    Tangliang 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...
  12. pmc Artemis and nonhomologous end joining-independent influence of DNA-dependent protein kinase catalytic subunit on chromosome stability
    Travis 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...
  13. ncbi Identification and molecular characterization of the mammalian α-kleisin RAD21L
    Cristina 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...
  14. pmc RAD21L, a novel cohesin subunit implicated in linking homologous chromosomes in mammalian meiosis
    Jibak 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...
  15. pmc A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesion
    Alexander Kurze
    Department of Biochemistry, University of Oxford, Oxford, UK
    EMBO J 30:364-78. 2011
    Cohesin'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 ..
  16. pmc The ATM cofactor ATMIN protects against oxidative stress and accumulation of DNA damage in the aging brain
    Nnennaya 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...
  17. pmc Mediator and cohesin connect gene expression and chromatin architecture
    Michael 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...
  18. doi ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain
    Kristin 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...
  19. ncbi The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation
    R 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...
  20. doi Cohesin protein SMC1 is a centrosomal protein
    Jikui Guan
    Department of Cell and Molecular Biology, Karolinska Institute, Berzelius vag 35, SE 171 77 Stockholm, Sweden
    Biochem Biophys Res Commun 372:761-4. 2008
    Structural maintenance of chromosome protein 1 (SMC1) is well known for its roles in sister chromatid cohesion and DNA repair...
  21. doi SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
    Marnie 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...
  22. pmc Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators
    William 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...
  23. pmc The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: implications for the Mre11 complex as a DNA damage sensor
    Monica 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
    ....
  24. pmc Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway
    Risa 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...
  25. ncbi Differential association of SMC1alpha and SMC3 proteins with meiotic chromosomes in wild-type and SPO11-deficient male mice
    Rosalina D James
    Department of Pathology, University of Washington, Seattle, WA 98195, USA
    Chromosome Res 10:549-60. 2002
    SMC 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...
  26. ncbi Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human
    K 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...
  27. pmc Characterization of the components of the putative mammalian sister chromatid cohesion complex
    N 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...