GenAge entry for LMNA (Homo sapiens)

Entry selected based on evidence directly linking the gene product to ageing in humans

Gene name (HAGRID: 14)

HGNC symbol
LMNA 
Aliases
HGPS; LMN1; CMD1A; LGMD1B; PRO1; LMNL1 
Common name
lamin A/C 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence directly linking the gene product to ageing in humans
Description

Hutchinson-Gilford's progeroid syndrome, caused by a mutation in LMNA, is characterized by features resembling accelerated ageing [17]. LMNA encodes both lamin A and C, two components of the lamina, a layer of the inner nuclear membrane that may interact with chromatin [174]. Its exact functions remain unknown. Other pathologies not resembling accelerated ageing have also been associated with mutations in LMNA, like Emery-Dreifuss muscular dystrophy [986]. Mice Lmna mutants containing the G690G, which display an increased ratio of Progerin/Lamin A, have also shorter lifespan compared to wild-type ( ~40% in heterozygous mice, and ~83% in homozygous mice), while mice with Lmna LCS, a knock-in mutation responsible for specifically not-producing Progerin, display an increased lifespan (~13% in heterozygous mice and ~10% in homozygous mice) [3548]. Although further research is needed to understand LMNA, it is one promising candidate for a gene related to human ageing.

Cytogenetic information

Cytogenetic band
1q22
Location
156,114,670 bp to 156,140,089 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000278; mitotic cell cycle
GO:0006915; apoptotic process
GO:0006921; cellular component disassembly involved in execution phase of apoptosis
GO:0006987; activation of signaling protein activity involved in unfolded protein response
GO:0007077; mitotic nuclear envelope disassembly
GO:0007084; mitotic nuclear envelope reassembly
GO:0007517; muscle organ development
GO:0030334; regulation of cell migration
GO:0030951; establishment or maintenance of microtubule cytoskeleton polarity
GO:0030968; endoplasmic reticulum unfolded protein response
GO:0034504; protein localization to nucleus
And 7 more GO terms
Cellular component: GO:0005634; nucleus
GO:0005635; nuclear envelope
GO:0005638; lamin filament
GO:0005652; nuclear lamina
GO:0005654; nucleoplasm
GO:0005737; cytoplasm
GO:0005829; cytosol
GO:0005882; intermediate filament
GO:0048471; perinuclear region of cytoplasm
Function: GO:0005198; structural molecule activity
GO:0005515; protein binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
PRKCA, RB1, EMD, LMNB1
STRING interaction network
Protein-Protein network diagram for LMNA

Retrieve sequences for LMNA

ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
lmn-1
Drosophila melanogaster
LamC
Danio rerio
lmna
Mus musculus
Lmna
Rattus norvegicus
Lmna

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as lmn-1
  • A homolog of this gene for Mus musculus is present as Lmna
LongevityMap
  • This gene is present as LMNA

Selected references

External links

EPD
ORF Accession
NM_170707
CDS Accession
NP_733821
OMIM
150330
HPRD
01035
Ensembl
LMNA
UniProt/Swiss-Prot
LMNA_HUMAN
GeneCards
LMNA
Entrez Gene
4000
UniGene
594444
GenAtlas
LMNA
Internet
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