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Gene Ontology Classifications
Symbol
Name
ID
Lmna
lamin A
MGI:96794

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Lmna. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Ahmady E et al. (2011) Identification of a Novel Muscle A-type Lamin-interacting Protein (MLIP). J Biol Chem, 286:19702-13. (PubMed:21498514)
  2. Borrego-Pinto J et al. (2012) Samp1 is a component of TAN lines and is required for nuclear movement. J Cell Sci, 125:1099-105. (PubMed:22349700)
  3. Brachner A et al. (2005) LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins. J Cell Sci, 118:5797-810. (PubMed:16339967)
  4. Crisp M et al. (2006) Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol, 172:41-53. (PubMed:16380439)
  5. Fong LG et al. (2004) Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. Proc Natl Acad Sci U S A, 101:18111-6. (PubMed:15608054)
  6. Furukawa K et al. (1994) cDNA cloning and functional characterization of a meiosis-specific protein (MNS1) with apparent nuclear association. Chromosome Res, 2:99-113. (PubMed:8032679)
  7. Kim CE et al. (2010) A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A, 107:9861-6. (PubMed:20457914)
  8. Lee JS et al. (2007) Nuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migration. Biophys J, 93:2542-52. (PubMed:17631533)
  9. Lu D et al. (2010) LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. PLoS One, 5:e15167. (PubMed:21151901)
  10. Muralikrishna B et al. (2001) Distinct changes in intranuclear lamin A/C organization during myoblast differentiation. J Cell Sci, 114:4001-11. (PubMed:11739632)
  11. Nikolova V et al. (2004) Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest, 113:357-69. (PubMed:14755333)
  12. Ojeh N et al. (2008) The MAGUK-family protein CASK is targeted to nuclei of the basal epidermis and controls keratinocyte proliferation. J Cell Sci, 121:2705-17. (PubMed:18664494)
  13. Yamada M et al. (2010) Involvement of a novel preimplantation-specific gene encoding the high mobility group box protein Hmgpi in early embryonic development. Hum Mol Genet, 19:480-93. (PubMed:19915186)
  14. Zhang YQ et al. (2008) Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. J Cell Biol, 182:35-9. (PubMed:18606848)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory