Lmna lamin A [Mus musculus (house mouse)] - Gene (original) (raw)

Official Symbol

Lmnaprovided by MGI

Official Full Name

lamin Aprovided by MGI

Primary source

MGI:MGI:96794

See related

Ensembl:ENSMUSG00000028063 AllianceGenome:MGI:96794

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

human all

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Location:

3 F1; 3 38.84 cM

Exon count:

15

Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (88388455..88413842, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (88481148..88509932, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes

  1. Lamin A/C haploinsufficiency modulates the differentiation potential of mouse embryonic stem cells. Sehgal P, et al. PLoS One, 2013. PMID 23451281, Free PMC Article
  2. Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse. Cattin ME, et al. Neuromuscul Disord, 2016 Aug. PMID 27287550
  3. Identification of shorter length lamin A protein in mouse ear cartilage tissue. Kalidas RM, et al. Cell Mol Biol Lett, 2015 Jun. PMID 26204409
  4. Directed targeting of chromatin to the nuclear lamina is mediated by chromatin state and A-type lamins. Harr JC, et al. J Cell Biol, 2015 Jan 5. PMID 25559185, Free PMC Article
  5. Lamin A/C proteins in the spermatid acroplaxome are essential in mouse spermiogenesis. Shen J, et al. Reproduction, 2014 Nov. PMID 25118303

See all (433) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

  1. LAP2alpha facilitates myogenic gene expression by preventing nucleoplasmic lamin A/C from spreading to active chromatin regions.
    Title: LAP2alpha facilitates myogenic gene expression by preventing nucleoplasmic lamin A/C from spreading to active chromatin regions.
  2. Role of lamin A/C on dendritic cell function in antiviral immunity.
    Title: Role of lamin A/C on dendritic cell function in antiviral immunity.
  3. Exacerbated atherosclerosis in progeria is prevented by progerin elimination in vascular smooth muscle cells but not endothelial cells.
    Title: Exacerbated atherosclerosis in progeria is prevented by progerin elimination in vascular smooth muscle cells but not endothelial cells.
  4. Defective prelamin A processing promotes unconventional necroptosis driven by nuclear RIPK1.
    Title: Defective prelamin A processing promotes unconventional necroptosis driven by nuclear RIPK1.
  5. Lamin A upregulation reorganizes the genome during rod photoreceptor degeneration.
    Title: Lamin A upregulation reorganizes the genome during rod photoreceptor degeneration.
  6. Lamin A K97E leads to NF-kappaB-mediated dysfunction of inflammatory responses in dilated cardiomyopathy.
    Title: Lamin A K97E leads to NF-κB-mediated dysfunction of inflammatory responses in dilated cardiomyopathy.
  7. Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery-Dreifuss muscular dystrophy caused by an LMNA gene mutation.
    Title: Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery-Dreifuss muscular dystrophy caused by an LMNA gene mutation.
  8. ABHD7-mediated depalmitoylation of lamin A promotes myoblast differentiation.
    Title: ABHD7-mediated depalmitoylation of lamin A promotes myoblast differentiation.
  9. Lamin A/C mediates microglial activation by modulating cell proliferation and immune response.
    Title: Lamin A/C mediates microglial activation by modulating cell proliferation and immune response.
  10. Adenine base editor-based correction of the cardiac pathogenic Lmna c.1621C > T mutation in murine hearts.
    Title: Adenine base editor-based correction of the cardiac pathogenic Lmna c.1621C > T mutation in murine hearts.
Products Interactant Other Gene Complex Source Pubs Description

Markers

Preferred Names

prelamin-A/C

Names

lamin C

lamin-A/C

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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](#geneGenomic regions, transcripts, and products) above.

mRNA and Protein(s)

  1. NM_001002011.3 → NP_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](/nuccore/AC145168, AK004619, AK147150, AW047412)
    Consensus CDS
    CCDS38482.1
    UniProtKB/Swiss-Prot
    B3RH23, B3RH24, P11516, P48678, P97859, Q3TIH0, Q3TTS8, Q3U733, Q3U7I5, Q3UCA0, Q3UCJ8, Q3UCU3, Q91WF2, Q9DC21
    Related
    ENSMUSP00000029699.7, ENSMUST00000029699.13
    Conserved Domains (2) summary
    pfam00038
    Location:30 → 386
    Filament; Intermediate filament protein
    pfam00932
    Location:437 → 541
    LTD; Lamin Tail Domain
  2. NM_001111102.2 → NP_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](/nuccore/AC145168, AK149998, AK210245)
    Consensus CDS
    CCDS50951.1
    UniProtKB/Swiss-Prot
    P48678
    Related
    ENSMUSP00000113093.2, ENSMUST00000120377.8
    Conserved Domains (3) summary
    pfam00038
    Location:30 → 386
    Filament; Intermediate filament protein
    pfam00932
    Location:433 → 541
    LTD; Lamin Tail Domain
    cl19219
    Location:297 → 376
    DUF342; Protein of unknown function (DUF342)
  3. NM_019390.3 → NP_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](/nuccore/AC102388, AC145168, BY140664)
    Consensus CDS
    CCDS38483.1
    UniProtKB/Swiss-Prot
    P48678
    Related
    ENSMUSP00000040265.7, ENSMUST00000036252.7
    Conserved Domains (3) summary
    pfam00038
    Location:17 → 274
    Filament; Intermediate filament protein
    pfam00932
    Location:321 → 429
    LTD; Lamin Tail Domain
    cl19219
    Location:185 → 264
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J
    Range
    88388455..88413842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501073.2 → XP_006501136.1 prelamin-A/C isoform X1
    See identical proteins and their annotated locations for XP_006501136.1
    UniProtKB/Swiss-Prot
    B3RH23, B3RH24, P11516, P48678, P97859, Q3TIH0, Q3TTS8, Q3U733, Q3U7I5, Q3UCA0, Q3UCJ8, Q3UCU3, Q91WF2, Q9DC21
    Conserved Domains (2) summary
    pfam00038
    Location:30 → 386
    Filament; Intermediate filament protein
    pfam00932
    Location:437 → 541
    LTD; Lamin Tail Domain

RNA

  1. XR_004941291.1 RNA Sequence