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Description for Protein LMNA

lamin A/C
35 total interacting proteins; 16 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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. Through alternate splicing, this gene encodes three type A lamin isoforms. 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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • NLS: Nuclear localization signal
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12641
    KEGG - Pathway(s):
    hsa05410; hsa05412; hsa05414
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Lamin A/C isoform 1 precursor; Lamin A/C isoform 3; Lamin A/C isoform 2; Lamin A; Lamin C; LMNC; 70 kDa lamin; FPL; LFP; EMD2; FPLD; LDP1; LMN1; Prelamin A
    Approved Symbol:
    LMNA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 73
    Human (de-) phosphorylation sites: 73; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cardiomyopathy, dilated, 1A(Pd);
  • Charcot-Marie-tooth disease, axonal, type 2B1(Pd);
  • Emery-Dreifuss muscular dystrophy, autosomal dominant(Pd);
  • Emery-Dreifuss muscular dystrophy, autosomal recessive(Pd);
  • Hutchinson-Gilford progeria syndrome(Pd);
  • Hutchinson-Gilford progeria syndrome, atypical(Pd);
  • Lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules(Pd);
  • Lipodystrophy, familial partial, type 2(Pd);
  • Mandibuloacral dysplasia with type A lipodystrophy(Pd);
  • Muscular dystrophy, limb-girdle, type 1B(Pd);
  • Myopathy, early-onset, with progeroid features(Pd);
  • Restrictive dermopathy, lethal(Pd);
  • Werner syndrome, atypical(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01035 Entrez Gene ID: 4000 OMIM ID: 150330 Swissprot Accession: P02545;