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Lmna lamin A [ Mus musculus (house mouse) ]

Gene ID: 16905, updated on 29-Jan-2023

Summary

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
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Genomic context

See Lmna in Genome Data Viewer
Location:
3 F1; 3 38.84 cM
Exon count:
15
Annotation release Status Assembly Chr Location
109 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 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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase 1 binding ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA double-strand break attachment to nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within_positive_effect cellular senescence ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of cell polarity NAS
Non-traceable Author Statement
more info
PubMed 
involved_in establishment or maintenance of microtubule cytoskeleton polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heterochromatin formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in muscle organ development ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of adipose tissue development ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cardiac muscle hypertrophy in response to stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of mesenchymal cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear envelope organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within nuclear envelope organization IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in nuclear envelope organization ISO
Inferred from Sequence Orthology
more info
 
involved_in nuclear migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nuclear pore localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within nucleus organization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within nucleus organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of osteoblast differentiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of telomere maintenance ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within ventricular cardiac muscle cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
 
located_in lamin filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear envelope TAS
Traceable Author Statement
more info
 
is_active_in nuclear lamina IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear matrix ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in site of double-strand break 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)

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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 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, Q9DC21
    UniProtKB/TrEMBL
    A0A6P5PC97, A0A8C6IBX6
    Related
    ENSMUSP00000029699.7, ENSMUST00000029699.13
    Conserved Domains (2) summary
    pfam00038
    Location:30386
    Filament; Intermediate filament protein
    pfam00932
    Location:437541
    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
    ENSMUSP00000113093.2, ENSMUST00000120377.8
    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
    UniProtKB/TrEMBL
    A0A8C6N4L5
    Related
    ENSMUSP00000040265.7, ENSMUST00000036252.7
    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 109 details...Open this link in a new tab

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

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_006501073.2XP_006501136.1  prelamin-A/C isoform X1

    See identical proteins and their annotated locations for XP_006501136.1

    UniProtKB/Swiss-Prot
    P48678, Q9DC21
    UniProtKB/TrEMBL
    A0A6P5PC97, A0A8C6IBX6
    Conserved Domains (2) summary
    pfam00038
    Location:30386
    Filament; Intermediate filament protein
    pfam00932
    Location:437541
    LTD; Lamin Tail Domain

RNA

  1. XR_004941291.1 RNA Sequence