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

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: human all
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Genomic context

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Defective prelamin A processing promotes unconventional necroptosis driven by nuclear RIPK1.
Title: Defective prelamin A processing promotes unconventional necroptosis driven by nuclear RIPK1.
Lamin A upregulation reorganizes the genome during rod photoreceptor degeneration.
Title: Lamin A upregulation reorganizes the genome during rod photoreceptor degeneration.
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.
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.
ABHD7-mediated depalmitoylation of lamin A promotes myoblast differentiation.
Title: ABHD7-mediated depalmitoylation of lamin A promotes myoblast differentiation.
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.
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.
LMNA-related muscular dystrophy involving myoblast proliferation and apoptosis through the FOXO1/GADD45A pathway.
Title: LMNA-related muscular dystrophy involving myoblast proliferation and apoptosis through the FOXO1/GADD45A pathway.
An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.
Title: An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.

Submit: New GeneRIF Correction See all GeneRIFs (187)

Variation

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Alleles

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

Endonuclease-mediated (11) 1 citation
Gene trapped (2)
Spontaneous (1) 1 citation
Targeted (31) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_3281-3282:991936958:1 (e-PCR)
- UniSTS:231005

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
enables structural constituent of nuclear lamina	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of nuclear lamina	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA double-strand break attachment to nuclear envelope	ISO Inferred from Sequence Orthology more info
involved_in DNA double-strand break attachment to nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within_positive_effect cellular senescence	ISS Inferred from Sequence or Structural Similarity 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
involved_in muscle organ development	ISO Inferred from Sequence Orthology more info
involved_in muscle organ development	ISS Inferred from Sequence or Structural Similarity 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
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 envelope organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear pore localization	IBA Inferred from Biological aspect of Ancestor more info
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
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 lamin filament	IDA Inferred from Direct Assay more info	PubMed
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
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
is_active_in nuclear lamina	IDA Inferred from Direct Assay more info	PubMed
is_active_in nuclear lamina	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity 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 perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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

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
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

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)
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

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)