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 Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. 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. [provided by RefSeq, Apr 2012]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Lmna
  • participates in the following biological processes:
    • regulation of apoptotic process ^[8]
  • is located in the following cellular components:
    • lamin filament ^[5]
    • nuclear envelope ^{[6, 13]}
    • nucleus ^{[9, 11, 12]}
• The gene product of Lmna has been shown to bind to the gene products of Eftud2, Srsf2, Sun1, Sun2. ^{[3, 9]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Lmna
  • participates in the following biological processes:
    • establishment or maintenance of microtubule cytoskeleton polarity ^[7]
    • nucleus organization ^[10]
    • protein localization to nucleus ^{[1, 2]}
    • regulation of cell migration ^[7]
    • sterol regulatory element binding protein import into nucleus ^[10]
    • ventricular cardiac muscle cell development ^[10]
• Researchers have inferred, based on genetic interactions, that the gene product of Lmna
  • participates in the following biological processes:
    • nuclear envelope organization based on interactions with Zmpste24 ^[4]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Lmna:
  • participates in the following biological processes:
    • muscle organ development
    • positive regulation of cell aging
  • is located in the following cellular components:
    • cytoplasm
    • nuclear envelope
    • nuclear matrix
    • nucleus
    • perinuclear region of cytoplasm

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Summary text based on GO annotations supported by structural data

• Lmna encodes a protein or proteins that contain the following InterPro domains: Filament, Intermediate filament protein, Intermediate filament protein, conserved site, Lamin Tail Domain, indicating that the gene product:
  • performs the following molecular functions:
    • structural molecule activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Lmna indicates that it:
  • is located in the following cellular components:
    • intermediate filament

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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. 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)
3. Crisp M et al. (2006) Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol, 172:41-53. (PubMed:16380439)
4. 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)
5. 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)
6. 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)
7. 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)
8. 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)
9. Muralikrishna B et al. (2001) Distinct changes in intranuclear lamin A/C organization during myoblast differentiation. J Cell Sci, 114:4001-11. (PubMed:11739632)
10. 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)
11. 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)
12. 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)
13. 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)

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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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