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    Lmna lamin A [ Mus musculus (house mouse) ]

    Gene ID: 16905, updated on 7-Oct-2018

    Summary

    Official Symbol
    Lmnaprovided by MGI
    Official Full Name
    lamin Aprovided by MGI
    Primary source
    MGI:MGI:96794
    See related
    Ensembl:ENSMUSG00000028063 Vega:OTTMUSG00000030317
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dhe
    Summary
    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]
    Expression
    Broad expression in colon adult (RPKM 180.7), stomach adult (RPKM 89.6) and 19 other tissues See more
    Orthologs

    Genomic context

    See Lmna in Genome Data Viewer
    Location:
    3 F1; 3 38.84 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (88481148..88509932, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (88285071..88307254, complement)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 40089 Neighboring gene high mobility group box 3 pseudogene Neighboring gene predicted gene, 38618 Neighboring gene mex3 RNA binding family member A Neighboring gene microRNA 1905

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase 1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    establishment of cell polarity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    establishment or maintenance of microtubule cytoskeleton polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle organ development ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of adipose tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cardiac muscle hypertrophy in response to stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mesenchymal cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear envelope organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nuclear envelope organization ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell aging ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H3-K9 trimethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    ventricular cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     
    lamin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    prelamin-A/C
    Names
    lamin C
    lamin-A/C

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001002011.3NP_001002011.2  prelamin-A/C isoform A precursor

      See identical proteins and their annotated locations for NP_001002011.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A).
      Source sequence(s)
      AC145168, AK004619, AK147150, AW047412
      Consensus CDS
      CCDS38482.1
      UniProtKB/Swiss-Prot
      P48678
      Related
      ENSMUSP00000029699.6, OTTMUSP00000039297, ENSMUST00000029699.12, OTTMUST00000075092
      Conserved Domains (2) summary
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:436541
      LTD; Lamin Tail Domain
    2. NM_001111102.2NP_001104572.1  prelamin-A/C isoform C

      See identical proteins and their annotated locations for NP_001104572.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (C) has a distinct and shorter C-terminus, compared to isoform A.
      Source sequence(s)
      AC145168, AK149998, AK210245
      Consensus CDS
      CCDS50951.1
      UniProtKB/Swiss-Prot
      P48678
      Related
      ENSMUSP00000113093.1, OTTMUSP00000039298, ENSMUST00000120377.7, OTTMUST00000075093
      Conserved Domains (3) summary
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:433541
      LTD; Lamin Tail Domain
      cl19219
      Location:297376
      DUF342; Protein of unknown function (DUF342)
    3. NM_019390.3NP_062263.1  prelamin-A/C isoform C2

      See identical proteins and their annotated locations for NP_062263.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and uses an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (C2) has distinct N- and C-termini and is shorter than isoform A.
      Source sequence(s)
      AC102388, AC145168, BY140664
      Consensus CDS
      CCDS38483.1
      UniProtKB/Swiss-Prot
      P48678
      Related
      ENSMUSP00000040265.6, OTTMUSP00000039299, ENSMUST00000036252.6, OTTMUST00000075094
      Conserved Domains (3) summary
      pfam00038
      Location:17274
      Filament; Intermediate filament protein
      pfam00932
      Location:321429
      LTD; Lamin Tail Domain
      cl19219
      Location:185264
      DUF342; Protein of unknown function (DUF342)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

      Range
      88481148..88509932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501073.1XP_006501136.1  prelamin-A/C isoform X1

      See identical proteins and their annotated locations for XP_006501136.1

      UniProtKB/Swiss-Prot
      P48678
      Conserved Domains (2) summary
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:436541
      LTD; Lamin Tail Domain
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